Incidental Mutation 'R5982:Pcdhga12'
| ID |
481507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga12
|
| Ensembl Gene |
ENSMUSG00000102428 |
| Gene Name |
protocadherin gamma subfamily A, 12 |
| Synonyms |
Pcdh13, pc2c |
| MMRRC Submission |
044163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37898633-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37901084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 639
(K639Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192535]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000193404]
[ENSMUST00000192931]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000192511]
[ENSMUST00000193869]
[ENSMUST00000208907]
[ENSMUST00000195764]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| 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 damaging
Transcript: ENSMUST00000044851
AA Change: K639Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
AA Change: K639Q
| 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: ENSMUST00000192501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193045
|
| 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: 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: 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: 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: 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: ENSMUST00000193984
|
| 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: 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: 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: ENSMUST00000208907
|
| 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 |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.4079 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
| Validation Efficiency |
98% (81/83) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,844,423 (GRCm39) |
E931D |
possibly damaging |
Het |
| Aebp1 |
C |
T |
11: 5,817,911 (GRCm39) |
T62I |
possibly damaging |
Het |
| Babam2 |
A |
T |
5: 31,977,964 (GRCm39) |
E139V |
possibly damaging |
Het |
| Bclaf1 |
C |
T |
10: 20,198,809 (GRCm39) |
R67* |
probably null |
Het |
| Bcr |
C |
A |
10: 75,012,248 (GRCm39) |
T51K |
probably benign |
Het |
| Best3 |
T |
A |
10: 116,840,322 (GRCm39) |
C251S |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,955,153 (GRCm39) |
M3457V |
probably benign |
Het |
| C87436 |
C |
A |
6: 86,422,957 (GRCm39) |
T177K |
possibly damaging |
Het |
| Cabin1 |
T |
A |
10: 75,561,394 (GRCm39) |
T1036S |
probably benign |
Het |
| Catsperg2 |
C |
A |
7: 29,412,442 (GRCm39) |
V383L |
possibly damaging |
Het |
| Ccdc182 |
C |
T |
11: 88,185,165 (GRCm39) |
Q82* |
probably null |
Het |
| Ccl9 |
T |
C |
11: 83,466,700 (GRCm39) |
T76A |
probably damaging |
Het |
| Cdc16 |
G |
T |
8: 13,831,399 (GRCm39) |
C544F |
possibly damaging |
Het |
| Cdh18 |
A |
C |
15: 23,474,302 (GRCm39) |
D724A |
possibly damaging |
Het |
| Cdip1 |
G |
A |
16: 4,587,946 (GRCm39) |
P6S |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,537,842 (GRCm39) |
V2542A |
probably damaging |
Het |
| Dnajc13 |
G |
T |
9: 104,061,814 (GRCm39) |
T1380K |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,598,226 (GRCm39) |
S715T |
possibly damaging |
Het |
| Dync2h1 |
G |
T |
9: 6,955,986 (GRCm39) |
T4132K |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,711,419 (GRCm39) |
|
probably null |
Het |
| Etl4 |
G |
T |
2: 20,785,826 (GRCm39) |
V716L |
probably damaging |
Het |
| Exoc3l2 |
A |
G |
7: 19,213,957 (GRCm39) |
E461G |
unknown |
Het |
| Fam135b |
A |
G |
15: 71,320,518 (GRCm39) |
|
probably null |
Het |
| Flrt3 |
G |
T |
2: 140,502,836 (GRCm39) |
P264Q |
possibly damaging |
Het |
| Fmn2 |
G |
C |
1: 174,330,019 (GRCm39) |
E136D |
unknown |
Het |
| Fosl2 |
A |
G |
5: 32,304,217 (GRCm39) |
I51V |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,347,998 (GRCm39) |
T307A |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,408 (GRCm39) |
D316G |
possibly damaging |
Het |
| Gm14403 |
A |
T |
2: 177,200,345 (GRCm39) |
H97L |
probably damaging |
Het |
| Gm5616 |
A |
G |
9: 48,361,890 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
C |
10: 62,229,589 (GRCm39) |
D696G |
probably benign |
Het |
| Igkv1-88 |
C |
A |
6: 68,839,432 (GRCm39) |
W60L |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 87,998,899 (GRCm39) |
W333* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnk3 |
G |
T |
5: 30,780,014 (GRCm39) |
V355L |
probably benign |
Het |
| Kmt5c |
A |
C |
7: 4,749,790 (GRCm39) |
K436T |
probably damaging |
Het |
| Lynx1 |
T |
C |
15: 74,623,264 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Lypd5 |
T |
C |
7: 24,052,462 (GRCm39) |
S149P |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,638,169 (GRCm39) |
N252Y |
probably damaging |
Het |
| Mgat2 |
T |
C |
12: 69,232,454 (GRCm39) |
W343R |
probably damaging |
Het |
| Misp |
T |
G |
10: 79,663,728 (GRCm39) |
Y567* |
probably null |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,568 (GRCm39) |
S115T |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,558,442 (GRCm39) |
I2617R |
unknown |
Het |
| Myo19 |
T |
A |
11: 84,790,226 (GRCm39) |
V394E |
probably damaging |
Het |
| Myo9b |
T |
A |
8: 71,801,040 (GRCm39) |
L1065Q |
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,331,229 (GRCm39) |
D405G |
possibly damaging |
Het |
| Napb |
A |
T |
2: 148,542,411 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
G |
12: 13,443,431 (GRCm39) |
Y1162C |
probably benign |
Het |
| Nfam1 |
A |
T |
15: 82,917,325 (GRCm39) |
L36Q |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,963,411 (GRCm39) |
D202G |
probably damaging |
Het |
| Or51k1 |
T |
G |
7: 103,661,117 (GRCm39) |
H264P |
probably damaging |
Het |
| Or7a39 |
T |
G |
10: 78,715,787 (GRCm39) |
Y260* |
probably null |
Het |
| Osgin2 |
T |
C |
4: 15,998,908 (GRCm39) |
E238G |
probably benign |
Het |
| Papss2 |
A |
G |
19: 32,616,636 (GRCm39) |
T221A |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,352,900 (GRCm39) |
|
probably null |
Het |
| Pmepa1 |
A |
G |
2: 173,076,105 (GRCm39) |
S83P |
possibly damaging |
Het |
| Pnp |
G |
A |
14: 51,188,000 (GRCm39) |
V118M |
probably damaging |
Het |
| Ppat |
T |
C |
5: 77,063,112 (GRCm39) |
T500A |
probably benign |
Het |
| Pramel22 |
C |
A |
4: 143,381,034 (GRCm39) |
V330F |
probably damaging |
Het |
| Rab11fip4 |
A |
G |
11: 79,581,601 (GRCm39) |
N532S |
probably benign |
Het |
| Rbm25 |
A |
G |
12: 83,718,725 (GRCm39) |
D499G |
probably damaging |
Het |
| Rnf139 |
A |
G |
15: 58,770,687 (GRCm39) |
I237M |
possibly damaging |
Het |
| Rrp15 |
C |
T |
1: 186,471,952 (GRCm39) |
S85N |
possibly damaging |
Het |
| Sidt1 |
T |
C |
16: 44,082,071 (GRCm39) |
Y568C |
probably damaging |
Het |
| Slirp |
A |
G |
12: 87,490,784 (GRCm39) |
T29A |
probably damaging |
Het |
| Sltm |
G |
C |
9: 70,494,086 (GRCm39) |
E828Q |
probably damaging |
Het |
| Spindoc |
A |
G |
19: 7,351,960 (GRCm39) |
I129T |
probably damaging |
Het |
| Spire1 |
T |
A |
18: 67,630,386 (GRCm39) |
|
probably null |
Het |
| Styx |
A |
G |
14: 45,605,909 (GRCm39) |
T138A |
probably benign |
Het |
| Sv2c |
A |
T |
13: 96,112,571 (GRCm39) |
L642* |
probably null |
Het |
| Taf7 |
T |
C |
18: 37,776,498 (GRCm39) |
E23G |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,612,425 (GRCm39) |
T406S |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,765,017 (GRCm39) |
S840T |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,442,245 (GRCm39) |
I706T |
probably damaging |
Het |
| Tpsab1 |
A |
G |
17: 25,564,346 (GRCm39) |
V36A |
probably benign |
Het |
| Trafd1 |
T |
A |
5: 121,511,342 (GRCm39) |
D492V |
probably damaging |
Het |
| Trp53 |
A |
G |
11: 69,478,244 (GRCm39) |
E51G |
probably benign |
Het |
| Vdr |
C |
T |
15: 97,755,477 (GRCm39) |
A349T |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,491 (GRCm39) |
D307G |
probably benign |
Het |
| Zfp365 |
C |
A |
10: 67,733,437 (GRCm39) |
V252F |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,655,803 (GRCm39) |
N202K |
probably benign |
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 |
|
R4863:Pcdhga12
|
UTSW |
18 |
37,901,334 (GRCm39) |
missense |
probably benign |
0.36 |
|
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 |
|
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'- AACGTCCCCGAAATCTTGTAC -3'
(R):5'- CACCACCAGATAGAGAGTGAGC -3'
Sequencing Primer
(F):5'- TCTACTGGAGTGGAGCTAGCAC -3'
(R):5'- AGAGTGAGCCCTGAAGTTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation