Incidental Mutation 'R4863:Pcdhga12'
| ID |
374709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga12
|
| Ensembl Gene |
ENSMUSG00000102428 |
| Gene Name |
protocadherin gamma subfamily A, 12 |
| Synonyms |
Pcdh13, pc2c |
| MMRRC Submission |
042473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4863 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37898633-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37901334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 722
(L722P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000192535]
[ENSMUST00000193869]
[ENSMUST00000192511]
[ENSMUST00000194544]
[ENSMUST00000193404]
[ENSMUST00000194928]
[ENSMUST00000208907]
[ENSMUST00000195823]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195764]
|
| AlphaFold |
Q91XY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044851
AA Change: L722P
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
AA Change: L722P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
3.28e-1 |
SMART |
|
CA
|
155 |
240 |
1.8e-17 |
SMART |
|
CA
|
264 |
345 |
9.22e-24 |
SMART |
|
CA
|
369 |
450 |
1.28e-22 |
SMART |
|
CA
|
474 |
560 |
1.09e-25 |
SMART |
|
CA
|
591 |
669 |
9.24e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.6e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061279
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
3.23e-2 |
SMART |
|
CA
|
155 |
240 |
2.22e-17 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
7.09e-25 |
SMART |
|
CA
|
474 |
560 |
3.55e-25 |
SMART |
|
CA
|
591 |
669 |
2.53e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
4.84e-2 |
SMART |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
345 |
1.14e-23 |
SMART |
|
CA
|
369 |
450 |
9.44e-21 |
SMART |
|
CA
|
474 |
560 |
1.03e-26 |
SMART |
|
CA
|
591 |
669 |
3.64e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091935
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
32 |
132 |
8.37e-3 |
SMART |
|
CA
|
156 |
241 |
5.51e-22 |
SMART |
|
CA
|
265 |
346 |
8.27e-26 |
SMART |
|
CA
|
370 |
451 |
1.4e-23 |
SMART |
|
CA
|
475 |
561 |
2.97e-27 |
SMART |
|
CA
|
592 |
670 |
1.18e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180922
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192535
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
8e-3 |
SMART |
|
CA
|
155 |
240 |
2.49e-20 |
SMART |
|
CA
|
264 |
341 |
4.97e-29 |
SMART |
|
CA
|
365 |
446 |
1.09e-25 |
SMART |
|
CA
|
470 |
556 |
1.75e-24 |
SMART |
|
CA
|
587 |
668 |
9.18e-10 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192511
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
133 |
1.57e-2 |
SMART |
|
CA
|
157 |
242 |
3.24e-19 |
SMART |
|
CA
|
266 |
347 |
3.21e-23 |
SMART |
|
CA
|
371 |
452 |
9.08e-23 |
SMART |
|
CA
|
476 |
562 |
1.32e-24 |
SMART |
|
CA
|
593 |
671 |
3.5e-15 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194928
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
2.48e-6 |
SMART |
|
CA
|
155 |
240 |
1.57e-17 |
SMART |
|
CA
|
264 |
343 |
1.29e-27 |
SMART |
|
CA
|
367 |
448 |
9.14e-28 |
SMART |
|
CA
|
472 |
558 |
1.24e-24 |
SMART |
|
CA
|
589 |
670 |
3.73e-10 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
2.41e-2 |
SMART |
|
CA
|
155 |
240 |
5.77e-16 |
SMART |
|
CA
|
264 |
345 |
1.1e-21 |
SMART |
|
CA
|
369 |
450 |
2.75e-22 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
CA
|
474 |
560 |
9.22e-24 |
SMART |
|
CA
|
591 |
669 |
2.4e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
1.47e-2 |
SMART |
|
CA
|
155 |
240 |
1.23e-19 |
SMART |
|
CA
|
264 |
343 |
5.54e-27 |
SMART |
|
CA
|
367 |
448 |
5.09e-26 |
SMART |
|
CA
|
472 |
558 |
1.98e-23 |
SMART |
|
CA
|
589 |
670 |
1.3e-9 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195764
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
57 |
132 |
1.5e-4 |
SMART |
|
CA
|
156 |
241 |
1.2e-20 |
SMART |
|
CA
|
265 |
346 |
7.8e-29 |
SMART |
|
CA
|
370 |
451 |
1.7e-26 |
SMART |
|
CA
|
475 |
561 |
2.2e-26 |
SMART |
|
CA
|
592 |
673 |
6.4e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (105/106) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Abcc12 |
T |
A |
8: 87,265,005 (GRCm39) |
I647F |
probably damaging |
Het |
| Acnat2 |
C |
A |
4: 49,380,172 (GRCm39) |
W384L |
probably damaging |
Het |
| Acvr1 |
A |
G |
2: 58,367,723 (GRCm39) |
L146P |
possibly damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,789,127 (GRCm39) |
M238K |
probably benign |
Het |
| Clmn |
A |
T |
12: 104,763,353 (GRCm39) |
I91N |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,776,806 (GRCm39) |
L523H |
probably damaging |
Het |
| Cpxm2 |
T |
A |
7: 131,661,476 (GRCm39) |
K437M |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,560,540 (GRCm39) |
V999E |
probably damaging |
Het |
| Dnpep |
T |
C |
1: 75,285,874 (GRCm39) |
|
probably benign |
Het |
| Dok3 |
G |
A |
13: 55,671,270 (GRCm39) |
R434W |
probably damaging |
Het |
| Dpysl5 |
C |
T |
5: 30,941,687 (GRCm39) |
H275Y |
probably benign |
Het |
| Ednra |
A |
T |
8: 78,394,012 (GRCm39) |
N361K |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,695,861 (GRCm39) |
S210R |
probably damaging |
Het |
| Erich3 |
T |
A |
3: 154,470,441 (GRCm39) |
V158E |
unknown |
Het |
| Fam193a |
T |
A |
5: 34,623,549 (GRCm39) |
V1379E |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,699,654 (GRCm39) |
V2304A |
probably damaging |
Het |
| Fcgbp |
A |
C |
7: 27,785,769 (GRCm39) |
D402A |
probably benign |
Het |
| Fkbp14 |
T |
C |
6: 54,562,930 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
G |
A |
11: 54,406,382 (GRCm39) |
V1160I |
possibly damaging |
Het |
| Fsd2 |
T |
C |
7: 81,202,712 (GRCm39) |
K289R |
probably null |
Het |
| Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,701,797 (GRCm39) |
V116A |
probably benign |
Het |
| Gm10770 |
T |
A |
2: 150,020,816 (GRCm39) |
K234* |
probably null |
Het |
| Gm9887 |
A |
G |
12: 69,418,763 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
G |
5: 31,316,577 (GRCm39) |
|
probably benign |
Het |
| H2-M10.3 |
T |
C |
17: 36,677,528 (GRCm39) |
D250G |
probably damaging |
Het |
| Hapln4 |
G |
A |
8: 70,537,142 (GRCm39) |
V26M |
possibly damaging |
Het |
| Hook3 |
G |
A |
8: 26,528,057 (GRCm39) |
A611V |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,809,412 (GRCm39) |
L1141P |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,485,164 (GRCm39) |
S388P |
probably damaging |
Het |
| Itga3 |
T |
A |
11: 94,952,793 (GRCm39) |
Q326L |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,556,346 (GRCm39) |
I729N |
probably damaging |
Het |
| Kcnab2 |
A |
G |
4: 152,486,403 (GRCm39) |
S132P |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,672,850 (GRCm39) |
A2481V |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,631,735 (GRCm39) |
|
probably benign |
Het |
| Lce1e |
A |
T |
3: 92,615,178 (GRCm39) |
C56* |
probably null |
Het |
| Lmcd1 |
T |
C |
6: 112,264,832 (GRCm39) |
|
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,562 (GRCm39) |
|
probably null |
Het |
| Lypd8l |
A |
T |
11: 58,503,338 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
G |
A |
12: 69,865,212 (GRCm39) |
P591L |
probably benign |
Het |
| Mapk13 |
C |
A |
17: 28,995,284 (GRCm39) |
D168E |
probably damaging |
Het |
| Marf1 |
A |
C |
16: 13,950,529 (GRCm39) |
H952Q |
possibly damaging |
Het |
| Megf6 |
T |
C |
4: 154,338,738 (GRCm39) |
|
probably null |
Het |
| Mical3 |
T |
C |
6: 121,010,748 (GRCm39) |
I411M |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,124,789 (GRCm39) |
K1781N |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,965,473 (GRCm39) |
V1174A |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,644,216 (GRCm39) |
L202Q |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,283,464 (GRCm39) |
M408L |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,300,235 (GRCm39) |
L249P |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,783,521 (GRCm39) |
|
probably null |
Het |
| Nxpe3 |
A |
T |
16: 55,669,996 (GRCm39) |
Y370N |
probably damaging |
Het |
| P2rx2 |
T |
A |
5: 110,489,434 (GRCm39) |
T167S |
probably benign |
Het |
| Pcdhb19 |
G |
T |
18: 37,632,161 (GRCm39) |
R652L |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,378,663 (GRCm39) |
I329F |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,828,583 (GRCm39) |
S29T |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,491,123 (GRCm39) |
D173G |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,604,961 (GRCm39) |
|
probably null |
Het |
| Polr1g |
T |
A |
7: 19,091,684 (GRCm39) |
Q141L |
probably damaging |
Het |
| Pou2f2 |
A |
G |
7: 24,796,533 (GRCm39) |
|
probably benign |
Het |
| Ppp1r14c |
TGGCGGCGGCGGCGGCGG |
TGGCGGCGGCGGCGG |
10: 3,316,702 (GRCm39) |
|
probably benign |
Het |
| Ppp1r42 |
T |
C |
1: 10,073,611 (GRCm39) |
|
probably benign |
Het |
| Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rab12 |
A |
T |
17: 66,805,103 (GRCm39) |
Y142N |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,572,556 (GRCm39) |
M857R |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,328,243 (GRCm39) |
K2753R |
probably damaging |
Het |
| Rasa4 |
A |
T |
5: 136,132,765 (GRCm39) |
K6* |
probably null |
Het |
| Rasgef1a |
A |
G |
6: 118,066,100 (GRCm39) |
M438V |
probably benign |
Het |
| Recql |
T |
G |
6: 142,304,732 (GRCm39) |
|
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,211,198 (GRCm39) |
V425A |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,267,001 (GRCm39) |
Y234C |
probably damaging |
Het |
| Sap30l |
T |
A |
11: 57,696,880 (GRCm39) |
L70Q |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,210,828 (GRCm39) |
R1730G |
probably damaging |
Het |
| Serinc5 |
T |
G |
13: 92,827,488 (GRCm39) |
I268R |
probably damaging |
Het |
| Sin3b |
G |
A |
8: 73,471,576 (GRCm39) |
V432I |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,719,649 (GRCm39) |
M203T |
possibly damaging |
Het |
| Soat1 |
T |
C |
1: 156,259,898 (GRCm39) |
N481S |
probably damaging |
Het |
| Sos2 |
G |
A |
12: 69,686,928 (GRCm39) |
T206I |
probably benign |
Het |
| Sp100 |
G |
T |
1: 85,632,724 (GRCm39) |
A132S |
probably benign |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,604 (GRCm39) |
L382* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,531,341 (GRCm39) |
W2533R |
probably benign |
Het |
| Tas2r126 |
A |
G |
6: 42,412,324 (GRCm39) |
T286A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,436,910 (GRCm39) |
K275M |
probably damaging |
Het |
| Ten1 |
A |
T |
11: 116,109,057 (GRCm39) |
K242N |
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,665,616 (GRCm39) |
D46V |
possibly damaging |
Het |
| Tial1 |
C |
T |
7: 128,056,752 (GRCm39) |
V1I |
probably damaging |
Het |
| Tle2 |
G |
A |
10: 81,424,725 (GRCm39) |
R649H |
possibly damaging |
Het |
| Tmem178 |
A |
G |
17: 81,252,374 (GRCm39) |
D86G |
probably benign |
Het |
| Trim29 |
T |
A |
9: 43,240,872 (GRCm39) |
D528E |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,132 (GRCm39) |
T851S |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,399,806 (GRCm39) |
Q414H |
possibly damaging |
Het |
| Yars1 |
A |
T |
4: 129,083,675 (GRCm39) |
|
probably benign |
Het |
| Yipf4 |
A |
G |
17: 74,801,087 (GRCm39) |
Q135R |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
| Zfp426 |
T |
C |
9: 20,381,334 (GRCm39) |
Y536C |
probably damaging |
Het |
| Zp2 |
T |
G |
7: 119,734,995 (GRCm39) |
Y430S |
probably damaging |
Het |
|
| Other mutations in Pcdhga12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3946:Pcdhga12
|
UTSW |
18 |
37,900,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3964:Pcdhga12
|
UTSW |
18 |
37,900,254 (GRCm39) |
missense |
probably benign |
|
|
R4169:Pcdhga12
|
UTSW |
18 |
37,899,467 (GRCm39) |
missense |
probably benign |
|
|
R4363:Pcdhga12
|
UTSW |
18 |
37,899,214 (GRCm39) |
missense |
probably benign |
|
|
R4409:Pcdhga12
|
UTSW |
18 |
37,901,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4754:Pcdhga12
|
UTSW |
18 |
37,899,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Pcdhga12
|
UTSW |
18 |
37,901,290 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5029:Pcdhga12
|
UTSW |
18 |
37,899,864 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5114:Pcdhga12
|
UTSW |
18 |
37,901,160 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5274:Pcdhga12
|
UTSW |
18 |
37,899,475 (GRCm39) |
nonsense |
probably null |
|
|
R5276:Pcdhga12
|
UTSW |
18 |
37,899,728 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5389:Pcdhga12
|
UTSW |
18 |
37,899,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Pcdhga12
|
UTSW |
18 |
37,899,314 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5615:Pcdhga12
|
UTSW |
18 |
37,901,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5704:Pcdhga12
|
UTSW |
18 |
37,900,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Pcdhga12
|
UTSW |
18 |
37,901,556 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5982:Pcdhga12
|
UTSW |
18 |
37,901,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6810:Pcdhga12
|
UTSW |
18 |
37,900,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7330:Pcdhga12
|
UTSW |
18 |
37,901,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7611:Pcdhga12
|
UTSW |
18 |
37,901,478 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7976:Pcdhga12
|
UTSW |
18 |
37,901,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Pcdhga12
|
UTSW |
18 |
37,901,190 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8454:Pcdhga12
|
UTSW |
18 |
37,901,190 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8487:Pcdhga12
|
UTSW |
18 |
37,900,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8911:Pcdhga12
|
UTSW |
18 |
37,900,118 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8946:Pcdhga12
|
UTSW |
18 |
37,899,711 (GRCm39) |
missense |
probably benign |
|
|
R9093:Pcdhga12
|
UTSW |
18 |
37,899,931 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9293:Pcdhga12
|
UTSW |
18 |
37,900,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Pcdhga12
|
UTSW |
18 |
37,901,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9649:Pcdhga12
|
UTSW |
18 |
37,900,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTAGTGTCTGTGCAGGAC -3'
(R):5'- TGATGAGCGTGTCTGCATAG -3'
Sequencing Primer
(F):5'- ACTGTCACGCTCACTGTGG -3'
(R):5'- CATAGTTGGGCTGCGGGAAAATC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation