Incidental Mutation 'R2571:Pcdhga11'
| ID |
476521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga11
|
| Ensembl Gene |
ENSMUSG00000102742 |
| Gene Name |
protocadherin gamma subfamily A, 11 |
| Synonyms |
|
| MMRRC Submission |
040429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2571 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37888826-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37889921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 310
(E310K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000193414]
[ENSMUST00000194544]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000194190]
[ENSMUST00000192511]
[ENSMUST00000193869]
[ENSMUST00000193404]
[ENSMUST00000194928]
[ENSMUST00000194418]
[ENSMUST00000195823]
[ENSMUST00000195363]
[ENSMUST00000195112]
[ENSMUST00000195764]
|
| AlphaFold |
Q91XY8 |
| 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: ENSMUST00000061279
AA Change: E310K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
AA Change: E310K
| 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: ENSMUST00000180922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192501
|
| 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,289,044 (GRCm39) |
N2438S |
probably benign |
Het |
| Ago3 |
G |
A |
4: 126,257,604 (GRCm39) |
R476W |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,534,429 (GRCm39) |
E339G |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,395,498 (GRCm39) |
V658A |
probably damaging |
Het |
| Bcl3 |
T |
C |
7: 19,543,452 (GRCm39) |
D338G |
probably damaging |
Het |
| Bpnt2 |
C |
T |
4: 4,778,192 (GRCm39) |
|
probably null |
Het |
| Ccdc138 |
T |
C |
10: 58,349,044 (GRCm39) |
Y197H |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,428,393 (GRCm39) |
Q499L |
probably damaging |
Het |
| Ccser1 |
G |
A |
6: 61,399,944 (GRCm39) |
C21Y |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,709 (GRCm39) |
Y229* |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 116,112,092 (GRCm39) |
R461C |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,413,712 (GRCm39) |
R407S |
unknown |
Het |
| Crlf3 |
A |
T |
11: 79,938,339 (GRCm39) |
F433I |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,852,542 (GRCm39) |
R1867W |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,673,062 (GRCm39) |
V911A |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,792,581 (GRCm39) |
|
probably null |
Het |
| Evpl |
T |
C |
11: 116,128,795 (GRCm39) |
Q10R |
unknown |
Het |
| Glra3 |
C |
T |
8: 56,563,516 (GRCm39) |
A337V |
probably benign |
Het |
| H2-T5 |
C |
T |
17: 36,478,553 (GRCm39) |
G132R |
possibly damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,544,857 (GRCm39) |
F163S |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,948,177 (GRCm39) |
V701A |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,504,778 (GRCm39) |
T422A |
probably benign |
Het |
| Hhat |
G |
A |
1: 192,235,330 (GRCm39) |
T442I |
probably damaging |
Het |
| Hmces |
A |
T |
6: 87,913,202 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Ighv1-62-1 |
T |
A |
12: 115,350,377 (GRCm39) |
T97S |
probably damaging |
Het |
| Kcne2 |
C |
T |
16: 92,093,800 (GRCm39) |
T109I |
probably damaging |
Het |
| Kcnq1 |
T |
G |
7: 142,661,433 (GRCm39) |
L113R |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 940,932 (GRCm39) |
S1106P |
probably benign |
Het |
| Kel |
C |
A |
6: 41,665,001 (GRCm39) |
A588S |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,706,885 (GRCm39) |
F1483I |
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,829,692 (GRCm39) |
N279Y |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,918,671 (GRCm39) |
M384K |
possibly damaging |
Het |
| Lepr |
C |
T |
4: 101,625,369 (GRCm39) |
T508I |
possibly damaging |
Het |
| Lypd10 |
A |
G |
7: 24,412,819 (GRCm39) |
I76V |
probably benign |
Het |
| Map1lc3b |
T |
A |
8: 122,320,213 (GRCm39) |
|
probably null |
Het |
| Me1 |
T |
C |
9: 86,536,751 (GRCm39) |
H108R |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,261,770 (GRCm39) |
S560P |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,451,844 (GRCm39) |
I394N |
possibly damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,124,896 (GRCm39) |
S826P |
probably damaging |
Het |
| Or13n4 |
T |
A |
7: 106,422,933 (GRCm39) |
M267L |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,945,667 (GRCm39) |
L138P |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,726,131 (GRCm39) |
D39G |
probably damaging |
Het |
| Ppp1r21 |
C |
T |
17: 88,852,810 (GRCm39) |
T63I |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,682,381 (GRCm39) |
Q25R |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,103,768 (GRCm39) |
L94P |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,122,135 (GRCm38) |
F333S |
probably benign |
Het |
| Rag2 |
T |
A |
2: 101,460,312 (GRCm39) |
H207Q |
probably damaging |
Het |
| Rps6ka1 |
G |
T |
4: 133,587,923 (GRCm39) |
|
probably null |
Het |
| Rps6ka4 |
G |
T |
19: 6,815,471 (GRCm39) |
H174Q |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,083,613 (GRCm39) |
T92K |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,708,987 (GRCm39) |
M4793K |
unknown |
Het |
| Ryr1 |
T |
A |
7: 28,735,551 (GRCm39) |
M4076L |
possibly damaging |
Het |
| Sec16a |
A |
C |
2: 26,329,343 (GRCm39) |
S891A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,241,340 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sos2 |
T |
A |
12: 69,682,492 (GRCm39) |
E242V |
possibly damaging |
Het |
| Spata31d1c |
G |
T |
13: 65,184,198 (GRCm39) |
R580L |
probably damaging |
Het |
| Spata9 |
C |
A |
13: 76,115,880 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,875,194 (GRCm39) |
V202E |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,762,068 (GRCm39) |
K168E |
probably damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
| Tra2a |
G |
T |
6: 49,229,421 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,078,533 (GRCm39) |
N181I |
possibly damaging |
Het |
| Ttc13 |
A |
C |
8: 125,410,538 (GRCm39) |
Y372D |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,894,174 (GRCm39) |
V192A |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,064,764 (GRCm39) |
T41A |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,875,706 (GRCm39) |
K1600N |
probably benign |
Het |
| Xpnpep3 |
A |
T |
15: 81,335,127 (GRCm39) |
H420L |
probably damaging |
Het |
| Zfp322a |
A |
G |
13: 23,540,614 (GRCm39) |
L376P |
probably damaging |
Het |
| Zfp619 |
T |
C |
7: 39,186,595 (GRCm39) |
L875P |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,696,890 (GRCm39) |
Q575L |
unknown |
Het |
|
| Other mutations in Pcdhga11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0062:Pcdhga11
|
UTSW |
18 |
37,941,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3840:Pcdhga11
|
UTSW |
18 |
37,890,602 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4871:Pcdhga11
|
UTSW |
18 |
37,890,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Pcdhga11
|
UTSW |
18 |
37,891,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5250:Pcdhga11
|
UTSW |
18 |
37,890,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5913:Pcdhga11
|
UTSW |
18 |
37,891,142 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5913:Pcdhga11
|
UTSW |
18 |
37,889,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6281:Pcdhga11
|
UTSW |
18 |
37,890,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Pcdhga11
|
UTSW |
18 |
37,889,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Pcdhga11
|
UTSW |
18 |
37,889,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7434:Pcdhga11
|
UTSW |
18 |
37,891,005 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7502:Pcdhga11
|
UTSW |
18 |
37,889,554 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7660:Pcdhga11
|
UTSW |
18 |
37,890,183 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7731:Pcdhga11
|
UTSW |
18 |
37,889,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7995:Pcdhga11
|
UTSW |
18 |
37,890,078 (GRCm39) |
nonsense |
probably null |
|
|
R8773:Pcdhga11
|
UTSW |
18 |
37,890,364 (GRCm39) |
nonsense |
probably null |
|
|
R9722:Pcdhga11
|
UTSW |
18 |
37,890,398 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1088:Pcdhga11
|
UTSW |
18 |
37,889,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Pcdhga11
|
UTSW |
18 |
37,889,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pcdhga11
|
UTSW |
18 |
37,889,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation