Incidental Mutation 'R7731:Pcdhga11'
| ID |
595876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga11
|
| Ensembl Gene |
ENSMUSG00000102742 |
| Gene Name |
protocadherin gamma subfamily A, 11 |
| Synonyms |
|
| MMRRC Submission |
045787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37888826-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37889564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 191
(N191Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| 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 benign
Transcript: ENSMUST00000061279
AA Change: N191Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
AA Change: N191Y
| 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 |
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: 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: 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: 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,470 (GRCm39) |
E210G |
possibly damaging |
Het |
| Accsl |
T |
C |
2: 93,691,363 (GRCm39) |
T372A |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,451 (GRCm39) |
S1049T |
probably damaging |
Het |
| Agmo |
G |
A |
12: 37,464,939 (GRCm39) |
R405K |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,031 (GRCm39) |
T217A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,603,107 (GRCm39) |
N45K |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,622,172 (GRCm39) |
T560I |
probably benign |
Het |
| Aqp1 |
T |
C |
6: 55,322,804 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,434,936 (GRCm39) |
V194M |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,391,086 (GRCm39) |
V320A |
probably benign |
Het |
| B230217C12Rik |
T |
C |
11: 97,732,226 (GRCm39) |
L2P |
unknown |
Het |
| Bco1 |
C |
A |
8: 117,857,807 (GRCm39) |
S477R |
possibly damaging |
Het |
| Brd4 |
A |
G |
17: 32,430,198 (GRCm39) |
S703P |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,892,275 (GRCm39) |
N339K |
|
Het |
| Cebpb |
A |
G |
2: 167,531,126 (GRCm39) |
D62G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,658,546 (GRCm39) |
I890V |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,633 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
T |
C |
11: 118,059,879 (GRCm39) |
T374A |
possibly damaging |
Het |
| Dennd3 |
A |
T |
15: 73,434,216 (GRCm39) |
H962L |
probably damaging |
Het |
| Dhtkd1 |
T |
G |
2: 5,928,923 (GRCm39) |
L249F |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,178,905 (GRCm39) |
H859Q |
probably benign |
Het |
| E2f4 |
A |
G |
8: 106,025,265 (GRCm39) |
D115G |
probably damaging |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,871 (GRCm39) |
I111V |
probably benign |
Het |
| Exoc3l4 |
G |
C |
12: 111,397,182 (GRCm39) |
D688H |
possibly damaging |
Het |
| Fan1 |
C |
T |
7: 64,022,444 (GRCm39) |
V270I |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,532 (GRCm39) |
I514N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,992,271 (GRCm39) |
T475I |
unknown |
Het |
| Fstl5 |
T |
A |
3: 76,569,069 (GRCm39) |
I574N |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,057,258 (GRCm39) |
V435A |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,327 (GRCm39) |
F492S |
probably damaging |
Het |
| Gm4924 |
T |
A |
10: 82,213,361 (GRCm39) |
N386K |
unknown |
Het |
| Hbp1 |
A |
T |
12: 31,983,367 (GRCm39) |
D362E |
possibly damaging |
Het |
| Hectd4 |
A |
C |
5: 121,445,077 (GRCm39) |
M105L |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,458 (GRCm39) |
P2424L |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,157,791 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,111,665 (GRCm39) |
V122A |
probably damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,302 (GRCm39) |
N402K |
possibly damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,921,927 (GRCm39) |
F207S |
probably damaging |
Het |
| Kbtbd8 |
C |
A |
6: 95,095,559 (GRCm39) |
N24K |
probably benign |
Het |
| Krtap10-4 |
T |
G |
10: 77,662,654 (GRCm39) |
T75P |
unknown |
Het |
| Macf1 |
C |
A |
4: 123,338,672 (GRCm39) |
S4355I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,042 (GRCm39) |
|
probably null |
Het |
| Myo3a |
G |
A |
2: 22,287,400 (GRCm39) |
V179M |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,048,870 (GRCm39) |
T462K |
possibly damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,141 (GRCm39) |
S91T |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,091,561 (GRCm39) |
M103V |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,424,141 (GRCm39) |
I137V |
probably benign |
Het |
| Or5j1 |
T |
C |
2: 86,879,578 (GRCm39) |
M1V |
probably null |
Het |
| Or8b53 |
A |
G |
9: 38,667,542 (GRCm39) |
Q186R |
possibly damaging |
Het |
| Ostn |
G |
A |
16: 27,165,668 (GRCm39) |
R119Q |
probably damaging |
Het |
| Pcsk6 |
A |
T |
7: 65,683,641 (GRCm39) |
Q752L |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,890,871 (GRCm39) |
T347A |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,792,872 (GRCm39) |
R1520W |
probably damaging |
Het |
| Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,399,732 (GRCm39) |
S2264P |
probably damaging |
Het |
| Ptcd1 |
C |
A |
5: 145,088,174 (GRCm39) |
R612S |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,965,492 (GRCm39) |
F359Y |
probably benign |
Het |
| Ptprr |
A |
C |
10: 116,073,200 (GRCm39) |
D474A |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,490,274 (GRCm39) |
Q846K |
probably benign |
Het |
| Slc22a14 |
C |
T |
9: 118,999,677 (GRCm39) |
A505T |
possibly damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,650 (GRCm39) |
Y151C |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
A |
G |
13: 53,487,993 (GRCm39) |
V450A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,187,821 (GRCm39) |
Y43C |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,743,858 (GRCm39) |
H460R |
probably benign |
Het |
| Syt15 |
A |
T |
14: 33,945,024 (GRCm39) |
E190D |
possibly damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,797,993 (GRCm39) |
K716R |
probably benign |
Het |
| Tbx20 |
T |
C |
9: 24,681,993 (GRCm39) |
I120M |
probably damaging |
Het |
| Tgm1 |
T |
G |
14: 55,947,978 (GRCm39) |
I274L |
probably benign |
Het |
| Tmem156 |
C |
T |
5: 65,232,905 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
A |
G |
16: 32,488,952 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,956 (GRCm39) |
S306G |
possibly damaging |
Het |
| Tut1 |
T |
A |
19: 8,936,626 (GRCm39) |
V150D |
probably benign |
Het |
| Uchl5 |
T |
C |
1: 143,670,275 (GRCm39) |
F143L |
|
Het |
| Vmn1r23 |
T |
C |
6: 57,903,319 (GRCm39) |
K153R |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,698,798 (GRCm39) |
D94E |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,287,690 (GRCm39) |
Y414H |
possibly damaging |
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 |
|
R2571:Pcdhga11
|
UTSW |
18 |
37,889,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
PCR Primer
(F):5'- ACGATAACGCTCCCAGCTTC -3'
(R):5'- TGAGGCATTTACCACGAGCAC -3'
Sequencing Primer
(F):5'- TCCCAGCTTCCGGGAAGAG -3'
(R):5'- GGAATACTCACTCTATACACAGGCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation