Incidental Mutation 'R7145:Pcdhga6'
| ID |
553748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga6
|
| Ensembl Gene |
ENSMUSG00000103793 |
| Gene Name |
protocadherin gamma subfamily A, 6 |
| Synonyms |
|
| MMRRC Submission |
045223-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7145 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37840154-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37840781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 167
(I167N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000195823]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
|
| 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 |
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: 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 damaging
Transcript: ENSMUST00000195823
AA Change: I167N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
AA Change: I167N
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 |
|---|
| 1110002E22Rik |
T |
C |
3: 137,775,820 (GRCm39) |
Y1670H |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,346,212 (GRCm39) |
K886R |
possibly damaging |
Het |
| Adcy3 |
G |
A |
12: 4,250,992 (GRCm39) |
E584K |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,693,205 (GRCm39) |
V131D |
probably benign |
Het |
| Arhgdig |
C |
T |
17: 26,418,337 (GRCm39) |
W215* |
probably null |
Het |
| Cad |
G |
T |
5: 31,224,956 (GRCm39) |
W953L |
possibly damaging |
Het |
| Calhm2 |
T |
C |
19: 47,124,080 (GRCm39) |
Y88C |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,156,468 (GRCm39) |
D1681E |
probably benign |
Het |
| Cenpl |
T |
A |
1: 160,910,482 (GRCm39) |
L143H |
possibly damaging |
Het |
| Cherp |
T |
C |
8: 73,222,230 (GRCm39) |
K270E |
|
Het |
| Cmss1 |
A |
G |
16: 57,131,718 (GRCm39) |
I136T |
probably benign |
Het |
| Col23a1 |
T |
C |
11: 51,456,050 (GRCm39) |
|
probably null |
Het |
| Crnn |
C |
A |
3: 93,055,689 (GRCm39) |
D158E |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,922,844 (GRCm39) |
Q149L |
probably benign |
Het |
| Dst |
T |
A |
1: 34,228,963 (GRCm39) |
N2185K |
probably benign |
Het |
| Eif1ad18 |
G |
T |
12: 88,050,597 (GRCm39) |
C44F |
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,737,126 (GRCm39) |
N25K |
probably benign |
Het |
| Ephb4 |
A |
T |
5: 137,370,308 (GRCm39) |
D845V |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,201,627 (GRCm39) |
T561A |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,525,235 (GRCm39) |
V159L |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,017,560 (GRCm39) |
D128E |
probably damaging |
Het |
| Flot1 |
T |
G |
17: 36,135,835 (GRCm39) |
H155Q |
probably benign |
Het |
| Fut9 |
T |
A |
4: 25,620,507 (GRCm39) |
K102N |
probably damaging |
Het |
| Gm6309 |
T |
C |
5: 146,107,100 (GRCm39) |
Q82R |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,522,992 (GRCm39) |
N102D |
probably damaging |
Het |
| Lamc2 |
C |
G |
1: 153,006,518 (GRCm39) |
A878P |
possibly damaging |
Het |
| Lepr |
C |
T |
4: 101,609,394 (GRCm39) |
T327I |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,285,152 (GRCm39) |
|
probably null |
Het |
| Ly86 |
A |
G |
13: 37,560,986 (GRCm39) |
K116E |
probably damaging |
Het |
| Mapk8ip2 |
T |
A |
15: 89,343,201 (GRCm39) |
F648I |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,566,876 (GRCm39) |
T1881I |
unknown |
Het |
| Myh13 |
T |
G |
11: 67,245,566 (GRCm39) |
S1069A |
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,151,054 (GRCm39) |
I1903N |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 112,965,545 (GRCm39) |
L1341* |
probably null |
Het |
| Naa25 |
G |
T |
5: 121,555,552 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,827,372 (GRCm39) |
A3V |
possibly damaging |
Het |
| Ncln |
T |
C |
10: 81,324,086 (GRCm39) |
H481R |
probably benign |
Het |
| Nek4 |
C |
A |
14: 30,704,305 (GRCm39) |
Q607K |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,796,462 (GRCm39) |
Y1182C |
probably damaging |
Het |
| Npnt |
T |
C |
3: 132,615,692 (GRCm39) |
N165S |
probably benign |
Het |
| Or2l5 |
C |
G |
16: 19,333,649 (GRCm39) |
V246L |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,721 (GRCm39) |
S215L |
probably damaging |
Het |
| Or8b8 |
A |
G |
9: 37,808,859 (GRCm39) |
H53R |
probably benign |
Het |
| Or8k30 |
T |
C |
2: 86,338,872 (GRCm39) |
L23P |
probably damaging |
Het |
| Otulin |
T |
C |
15: 27,608,856 (GRCm39) |
Y229C |
probably damaging |
Het |
| Palld |
A |
T |
8: 61,985,051 (GRCm39) |
D1071E |
unknown |
Het |
| Pcdhb20 |
T |
C |
18: 37,638,142 (GRCm39) |
S223P |
probably damaging |
Het |
| Pcdhgb4 |
A |
G |
18: 37,854,843 (GRCm39) |
N413D |
probably benign |
Het |
| Pcdhgb8 |
T |
A |
18: 37,896,050 (GRCm39) |
Y373* |
probably null |
Het |
| Plxna2 |
G |
T |
1: 194,331,830 (GRCm39) |
V419L |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,959,434 (GRCm39) |
|
probably null |
Het |
| Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
| Scaper |
C |
T |
9: 55,819,395 (GRCm39) |
D107N |
unknown |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,573 (GRCm39) |
Y67F |
probably benign |
Het |
| Scn5a |
G |
A |
9: 119,315,437 (GRCm39) |
T1757I |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,381,218 (GRCm39) |
P538L |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,298,797 (GRCm39) |
K72R |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,685,202 (GRCm39) |
T1409S |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,867,030 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
T |
C |
7: 45,383,056 (GRCm39) |
E242G |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,663,687 (GRCm39) |
H64Q |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,435,910 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tmem115 |
T |
C |
9: 107,412,285 (GRCm39) |
V203A |
probably benign |
Het |
| Tmem45b |
G |
A |
9: 31,340,337 (GRCm39) |
T108I |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,153,079 (GRCm39) |
D331E |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,029,377 (GRCm39) |
Y157C |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
C |
A |
6: 124,168,711 (GRCm39) |
R806S |
probably benign |
Het |
| Vmn2r59 |
G |
A |
7: 41,695,188 (GRCm39) |
A408V |
probably damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
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 |
|
R6188:Pcdhga6
|
UTSW |
18 |
37,841,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GCCCTGTCTTGTGAGCTTTAAC -3'
(R):5'- GAGCATTGTCGTTCACATCTACG -3'
Sequencing Primer
(F):5'- TGTGAGCTTTAACATCCTTATAGAAG -3'
(R):5'- GTTACAAGAATTCGCGCCATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation