Incidental Mutation 'R4754:Pcdhga12'
| ID |
357862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga12
|
| Ensembl Gene |
ENSMUSG00000102428 |
| Gene Name |
protocadherin gamma subfamily A, 12 |
| Synonyms |
Pcdh13, pc2c |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4754 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37898633-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37899604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 145
(N145K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194418]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000194928]
[ENSMUST00000194190]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000193404]
[ENSMUST00000192511]
[ENSMUST00000208907]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000195823]
[ENSMUST00000195112]
|
| 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: N145K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
AA Change: N145K
| 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: 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: 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: 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: 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: ENSMUST00000193984
|
| 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: 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: 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: 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: 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: 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: ENSMUST00000208907
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (107/109) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,856,837 (GRCm39) |
Y63C |
probably damaging |
Het |
| Abcb4 |
C |
A |
5: 8,960,717 (GRCm39) |
F266L |
probably damaging |
Het |
| Adam8 |
A |
T |
7: 139,564,693 (GRCm39) |
I681N |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,402,615 (GRCm39) |
|
probably null |
Het |
| Ang2 |
A |
G |
14: 51,432,974 (GRCm39) |
V136A |
probably damaging |
Het |
| Ankar |
C |
T |
1: 72,737,853 (GRCm39) |
G110R |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,540,468 (GRCm39) |
L130P |
probably damaging |
Het |
| Apc2 |
T |
G |
10: 80,150,192 (GRCm39) |
W1749G |
probably benign |
Het |
| Asb2 |
T |
C |
12: 103,290,096 (GRCm39) |
N565S |
possibly damaging |
Het |
| B3gnt7 |
C |
A |
1: 86,233,279 (GRCm39) |
T58K |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,076,615 (GRCm39) |
Q3663* |
probably null |
Het |
| Brpf1 |
T |
A |
6: 113,297,408 (GRCm39) |
N876K |
possibly damaging |
Het |
| Ccdc157 |
T |
C |
11: 4,098,994 (GRCm39) |
I69V |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 104,912,410 (GRCm39) |
I555F |
probably damaging |
Het |
| Cfap73 |
T |
C |
5: 120,767,729 (GRCm39) |
D274G |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,462,203 (GRCm39) |
I1310N |
probably damaging |
Het |
| Ckap2 |
T |
A |
8: 22,658,911 (GRCm39) |
I611F |
possibly damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,443,200 (GRCm39) |
I964V |
possibly damaging |
Het |
| Ctbp2 |
C |
A |
7: 132,625,287 (GRCm39) |
|
probably null |
Het |
| Dhrs2 |
A |
T |
14: 55,476,205 (GRCm39) |
I142F |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,421,101 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,251,390 (GRCm39) |
S1822P |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,181,112 (GRCm39) |
K581E |
probably damaging |
Het |
| Edem1 |
C |
T |
6: 108,818,658 (GRCm39) |
T222M |
probably damaging |
Het |
| Eif2ak1 |
A |
G |
5: 143,838,621 (GRCm39) |
M592V |
probably damaging |
Het |
| Endou |
T |
G |
15: 97,624,420 (GRCm39) |
D49A |
probably damaging |
Het |
| Ensa |
A |
G |
3: 95,529,865 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,544,375 (GRCm39) |
R708L |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,643,224 (GRCm39) |
C668S |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,067,835 (GRCm39) |
C798* |
probably null |
Het |
| Fam135b |
T |
C |
15: 71,334,800 (GRCm39) |
D798G |
probably benign |
Het |
| Fshb |
A |
C |
2: 106,887,627 (GRCm39) |
*131E |
probably null |
Het |
| G3bp2 |
C |
T |
5: 92,202,768 (GRCm39) |
V441M |
possibly damaging |
Het |
| Galnt6 |
A |
T |
15: 100,597,105 (GRCm39) |
F354I |
probably damaging |
Het |
| Gm1123 |
C |
A |
9: 98,905,293 (GRCm39) |
|
probably null |
Het |
| Gm1123 |
A |
T |
9: 98,905,294 (GRCm39) |
|
probably null |
Het |
| Gm15130 |
T |
C |
2: 110,973,207 (GRCm39) |
N115S |
unknown |
Het |
| Gm7104 |
A |
G |
12: 88,252,765 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9762 |
A |
T |
3: 78,873,728 (GRCm39) |
|
noncoding transcript |
Het |
| Grip2 |
T |
C |
6: 91,756,173 (GRCm39) |
T505A |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,756,163 (GRCm39) |
V508A |
probably damaging |
Het |
| Haus4 |
A |
G |
14: 54,787,349 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,408,488 (GRCm39) |
D4571E |
probably benign |
Het |
| Hnrnpk |
T |
A |
13: 58,546,950 (GRCm39) |
|
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,067,321 (GRCm39) |
Y23C |
probably damaging |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,881 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnma1 |
T |
C |
14: 23,413,904 (GRCm39) |
D833G |
probably damaging |
Het |
| Kmt2e |
A |
T |
5: 23,687,439 (GRCm39) |
I430F |
possibly damaging |
Het |
| Lama2 |
C |
A |
10: 26,994,527 (GRCm39) |
R1794L |
possibly damaging |
Het |
| Mcpt1 |
T |
A |
14: 56,256,137 (GRCm39) |
F59I |
probably damaging |
Het |
| Mib2 |
G |
T |
4: 155,739,822 (GRCm39) |
T783K |
possibly damaging |
Het |
| Nlrp4g |
T |
C |
9: 124,349,788 (GRCm38) |
|
noncoding transcript |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,592 (GRCm39) |
F151L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,926,869 (GRCm39) |
I6352V |
possibly damaging |
Het |
| Or2j6 |
C |
T |
7: 139,980,072 (GRCm39) |
A296T |
probably damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,391 (GRCm39) |
H226Q |
probably benign |
Het |
| Or4k1 |
T |
A |
14: 50,377,490 (GRCm39) |
N202I |
possibly damaging |
Het |
| Or4k1 |
T |
G |
14: 50,377,491 (GRCm39) |
N202H |
probably benign |
Het |
| Or52a5 |
T |
C |
7: 103,426,875 (GRCm39) |
I226V |
probably benign |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,225 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdh10 |
G |
A |
3: 45,335,072 (GRCm39) |
R462H |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,435,601 (GRCm39) |
L613Q |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,821,016 (GRCm39) |
D282G |
probably damaging |
Het |
| Plod2 |
T |
G |
9: 92,488,584 (GRCm39) |
Y624* |
probably null |
Het |
| Prkd3 |
C |
A |
17: 79,264,043 (GRCm39) |
V684F |
probably damaging |
Het |
| Ptpn1 |
T |
A |
2: 167,816,080 (GRCm39) |
V198D |
probably damaging |
Het |
| Ptpn12 |
G |
T |
5: 21,203,587 (GRCm39) |
P397Q |
probably benign |
Het |
| Rad1 |
C |
A |
15: 10,493,212 (GRCm39) |
|
probably benign |
Het |
| Rasl11a |
A |
G |
5: 146,783,825 (GRCm39) |
D90G |
probably benign |
Het |
| Rnf181 |
A |
G |
6: 72,337,543 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,587,984 (GRCm39) |
I2652M |
possibly damaging |
Het |
| Siglecg |
C |
T |
7: 43,061,295 (GRCm39) |
|
probably benign |
Het |
| Slc22a3 |
T |
C |
17: 12,726,082 (GRCm39) |
S44G |
probably benign |
Het |
| Slc38a1 |
A |
T |
15: 96,474,663 (GRCm39) |
F463I |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,755,954 (GRCm39) |
|
probably benign |
Het |
| Syk |
T |
C |
13: 52,766,295 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
T |
14: 27,183,052 (GRCm39) |
I504L |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,107,193 (GRCm39) |
I454M |
probably benign |
Het |
| Tmed6 |
C |
A |
8: 107,790,362 (GRCm39) |
D146Y |
probably damaging |
Het |
| Tmem132e |
A |
T |
11: 82,335,677 (GRCm39) |
K828* |
probably null |
Het |
| Tmprss15 |
A |
T |
16: 78,851,012 (GRCm39) |
S294T |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,038,360 (GRCm39) |
S1493P |
probably damaging |
Het |
| Tshb |
A |
T |
3: 102,685,491 (GRCm39) |
I46N |
probably damaging |
Het |
| Tspan11 |
T |
C |
6: 127,915,183 (GRCm39) |
V99A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,905 (GRCm39) |
T24176A |
probably benign |
Het |
| Vmn1r8 |
T |
C |
6: 57,012,952 (GRCm39) |
M1T |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,261,030 (GRCm39) |
Y464* |
probably null |
Het |
| Vmn2r110 |
T |
C |
17: 20,816,458 (GRCm39) |
T22A |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,715 (GRCm39) |
I671K |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,752,466 (GRCm39) |
N606D |
probably damaging |
Het |
| Zfy2 |
A |
T |
Y: 2,121,477 (GRCm39) |
S139T |
probably benign |
Het |
| Zkscan17 |
G |
A |
11: 59,393,851 (GRCm39) |
R156* |
probably null |
Het |
| Zp2 |
A |
G |
7: 119,737,541 (GRCm39) |
V248A |
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 |
|
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 |
|
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'- TTTCGCTCTAAACCCTCGAAGC -3'
(R):5'- AGATGAGCGGCCTTTTCCTC -3'
Sequencing Primer
(F):5'- TCTAAACCCTCGAAGCGGCAG -3'
(R):5'- TTCCTCCCGATCCAGCGAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation