Incidental Mutation 'R6188:Pcdhga6'
| ID |
502346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga6
|
| Ensembl Gene |
ENSMUSG00000103793 |
| Gene Name |
protocadherin gamma subfamily A, 6 |
| Synonyms |
|
| MMRRC Submission |
044328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R6188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37840154-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37841324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 348
(V348A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000195823]
[ENSMUST00000195112]
[ENSMUST00000194544]
[ENSMUST00000194190]
[ENSMUST00000194418]
|
| AlphaFold |
Q91XY2 |
| 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: 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: ENSMUST00000157868
|
| 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: 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: ENSMUST00000195823
AA Change: V348A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
AA Change: V348A
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (61/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,331,850 (GRCm39) |
I88F |
possibly damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 81,943,471 (GRCm39) |
S28P |
probably benign |
Het |
| a |
A |
T |
2: 154,889,602 (GRCm39) |
N56I |
probably damaging |
Het |
| Apoe |
C |
A |
7: 19,432,305 (GRCm39) |
|
probably benign |
Het |
| Aspm |
C |
A |
1: 139,406,977 (GRCm39) |
R1955S |
possibly damaging |
Het |
| Boc |
G |
A |
16: 44,319,911 (GRCm39) |
L358F |
possibly damaging |
Het |
| Cadm2 |
A |
T |
16: 66,612,195 (GRCm39) |
|
probably null |
Het |
| Ccdc183 |
T |
C |
2: 25,499,764 (GRCm39) |
E384G |
probably benign |
Het |
| Ccl12 |
A |
G |
11: 81,993,943 (GRCm39) |
T67A |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,857,529 (GRCm39) |
D312G |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,229,952 (GRCm39) |
V1712A |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,784 (GRCm39) |
S435P |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,699,361 (GRCm39) |
N997Y |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,453,396 (GRCm39) |
I86F |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,150,275 (GRCm39) |
Q168R |
probably benign |
Het |
| Epb41l4a |
T |
A |
18: 33,965,718 (GRCm39) |
I370L |
probably benign |
Het |
| Erc2 |
T |
A |
14: 28,039,208 (GRCm39) |
D950E |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,832,479 (GRCm39) |
V405A |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,209,752 (GRCm39) |
D71G |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,602,696 (GRCm39) |
Y205F |
possibly damaging |
Het |
| Fcnb |
C |
A |
2: 27,969,202 (GRCm39) |
R165M |
possibly damaging |
Het |
| Fndc3a |
C |
T |
14: 72,827,401 (GRCm39) |
V50I |
probably damaging |
Het |
| Gm13276 |
C |
T |
4: 88,704,096 (GRCm39) |
Q51* |
probably null |
Het |
| Grik1 |
T |
C |
16: 87,852,959 (GRCm39) |
T75A |
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,740,514 (GRCm39) |
L1015P |
probably damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,541,967 (GRCm39) |
F339L |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,006,200 (GRCm39) |
D537G |
probably benign |
Het |
| Kars1 |
C |
T |
8: 112,735,113 (GRCm39) |
|
probably null |
Het |
| Kpna7 |
G |
T |
5: 144,929,654 (GRCm39) |
N390K |
probably damaging |
Het |
| Krt36 |
A |
T |
11: 99,993,246 (GRCm39) |
S410T |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,310,157 (GRCm39) |
E365G |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,803,018 (GRCm39) |
D17G |
probably benign |
Het |
| Lmbrd1 |
C |
A |
1: 24,750,626 (GRCm39) |
N166K |
probably benign |
Het |
| Lypd9 |
T |
C |
11: 58,337,182 (GRCm39) |
E97G |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,139,059 (GRCm39) |
S44P |
probably damaging |
Het |
| Or2m12 |
A |
G |
16: 19,105,307 (GRCm39) |
M62T |
probably damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,538 (GRCm39) |
C177* |
probably null |
Het |
| Or5a3 |
A |
G |
19: 12,399,974 (GRCm39) |
I100M |
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,991,198 (GRCm39) |
Q295* |
probably null |
Het |
| Phyh |
A |
G |
2: 4,932,301 (GRCm39) |
E129G |
probably damaging |
Het |
| Polb |
A |
G |
8: 23,137,463 (GRCm39) |
S96P |
probably damaging |
Het |
| Ppp1r9a |
A |
T |
6: 5,158,113 (GRCm39) |
K1174* |
probably null |
Het |
| Ppp1r9b |
C |
T |
11: 94,882,662 (GRCm39) |
R97W |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,418,342 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,447,967 (GRCm39) |
|
probably null |
Het |
| Rgs20 |
GGAGAGAG |
GGAGAG |
1: 5,091,106 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
C |
4: 121,027,963 (GRCm39) |
H111R |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,969,831 (GRCm39) |
|
probably null |
Het |
| Ror2 |
T |
A |
13: 53,265,347 (GRCm39) |
T570S |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,313,061 (GRCm39) |
I542R |
possibly damaging |
Het |
| Serpinb3d |
A |
G |
1: 107,006,237 (GRCm39) |
F284L |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,590,397 (GRCm39) |
|
probably null |
Het |
| Spata31e2 |
T |
A |
1: 26,724,784 (GRCm39) |
Y132F |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,121,091 (GRCm39) |
I3973T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,186,087 (GRCm39) |
S1117G |
probably benign |
Het |
| Trav15-1-dv6-1 |
C |
T |
14: 53,797,414 (GRCm39) |
A21V |
probably damaging |
Het |
| Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,084 (GRCm39) |
L204H |
probably damaging |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,017 (GRCm39) |
S97T |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,286 (GRCm39) |
F293S |
probably damaging |
Het |
| Zfp983 |
A |
G |
17: 21,877,935 (GRCm39) |
Y46C |
probably damaging |
Het |
|
| Other mutations in Pcdhga6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3551:Pcdhga6
|
UTSW |
18 |
37,841,270 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3552:Pcdhga6
|
UTSW |
18 |
37,841,270 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3688:Pcdhga6
|
UTSW |
18 |
37,841,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Pcdhga6
|
UTSW |
18 |
37,840,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3832:Pcdhga6
|
UTSW |
18 |
37,841,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Pcdhga6
|
UTSW |
18 |
37,841,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Pcdhga6
|
UTSW |
18 |
37,841,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Pcdhga6
|
UTSW |
18 |
37,841,581 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5608:Pcdhga6
|
UTSW |
18 |
37,840,514 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5887:Pcdhga6
|
UTSW |
18 |
37,841,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Pcdhga6
|
UTSW |
18 |
37,840,697 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6494:Pcdhga6
|
UTSW |
18 |
37,841,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Pcdhga6
|
UTSW |
18 |
37,842,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Pcdhga6
|
UTSW |
18 |
37,840,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7211:Pcdhga6
|
UTSW |
18 |
37,842,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7313:Pcdhga6
|
UTSW |
18 |
37,841,072 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7425:Pcdhga6
|
UTSW |
18 |
37,841,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Pcdhga6
|
UTSW |
18 |
37,841,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Pcdhga6
|
UTSW |
18 |
37,842,479 (GRCm39) |
missense |
not run |
|
|
R8257:Pcdhga6
|
UTSW |
18 |
37,841,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8897:Pcdhga6
|
UTSW |
18 |
37,841,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8938:Pcdhga6
|
UTSW |
18 |
37,841,562 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8954:Pcdhga6
|
UTSW |
18 |
37,841,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Pcdhga6
|
UTSW |
18 |
37,840,716 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9009:Pcdhga6
|
UTSW |
18 |
37,841,878 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9101:Pcdhga6
|
UTSW |
18 |
37,841,393 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9265:Pcdhga6
|
UTSW |
18 |
37,841,102 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9377:Pcdhga6
|
UTSW |
18 |
37,841,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Pcdhga6
|
UTSW |
18 |
37,841,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9393:Pcdhga6
|
UTSW |
18 |
37,840,212 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Pcdhga6
|
UTSW |
18 |
37,841,494 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATCACAGAAGAAATCTCGC -3'
(R):5'- ATACCTGTTCGCGATCCAG -3'
Sequencing Primer
(F):5'- CAGATTTTCTGCTTGAATCCTTTAAC -3'
(R):5'- GATCCAGTTCTGTATTTGTCACTAAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation