Incidental Mutation 'R9191:Pcdhga7'
| ID |
705622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga7
|
| Ensembl Gene |
ENSMUSG00000103472 |
| Gene Name |
protocadherin gamma subfamily A, 7 |
| Synonyms |
|
| MMRRC Submission |
068952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R9191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37847887-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37848932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 313
(Q313R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193476]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| AlphaFold |
Q6DD96 |
| 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: ENSMUST00000192511
AA Change: Q313R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: Q313R
| 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: 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: ENSMUST00000193476
AA Change: Q313R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: Q313R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
CA
|
47 |
133 |
7.6e-5 |
SMART |
|
CA
|
157 |
242 |
1.6e-21 |
SMART |
|
CA
|
266 |
347 |
1.6e-25 |
SMART |
|
CA
|
371 |
452 |
4.5e-25 |
SMART |
|
CA
|
476 |
562 |
6.6e-27 |
SMART |
|
CA
|
593 |
671 |
1.7e-17 |
SMART |
|
transmembrane domain
|
694 |
716 |
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: 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: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
A |
5: 113,330,564 (GRCm39) |
R1217W |
probably benign |
Het |
| Acta2 |
T |
A |
19: 34,222,480 (GRCm39) |
I214F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,145,006 (GRCm39) |
I529S |
possibly damaging |
Het |
| Aknad1 |
C |
T |
3: 108,664,093 (GRCm39) |
P352L |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,439,893 (GRCm39) |
R277Q |
|
Het |
| Atm |
T |
C |
9: 53,438,590 (GRCm39) |
T127A |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,019,946 (GRCm39) |
E123V |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,823,350 (GRCm39) |
Q524R |
probably benign |
Het |
| Ccdc34 |
T |
A |
2: 109,852,301 (GRCm39) |
M141K |
possibly damaging |
Het |
| Crybb1 |
T |
A |
5: 112,417,199 (GRCm39) |
Y196N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,045,048 (GRCm39) |
R293H |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,305,914 (GRCm39) |
D96E |
probably benign |
Het |
| Intu |
T |
A |
3: 40,646,941 (GRCm39) |
L605M |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,100,559 (GRCm39) |
K1547* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,220,830 (GRCm39) |
V693D |
probably benign |
Het |
| Msantd5f6 |
A |
T |
4: 73,319,670 (GRCm39) |
S269T |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,106 (GRCm39) |
K3396E |
unknown |
Het |
| Myo3a |
A |
T |
2: 22,469,841 (GRCm39) |
R1475S |
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,781 (GRCm39) |
K366R |
probably damaging |
Het |
| Nphp4 |
A |
T |
4: 152,640,687 (GRCm39) |
D1018V |
probably damaging |
Het |
| Nt5e |
T |
C |
9: 88,246,874 (GRCm39) |
M370T |
possibly damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,988 (GRCm39) |
V717A |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,161,981 (GRCm39) |
I512T |
probably benign |
Het |
| Prpf40b |
A |
T |
15: 99,202,064 (GRCm39) |
Q54L |
probably null |
Het |
| Rasgrf1 |
G |
A |
9: 89,883,923 (GRCm39) |
V943M |
probably damaging |
Het |
| Serbp1 |
A |
G |
6: 67,249,838 (GRCm39) |
Y244C |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,925,396 (GRCm39) |
S219P |
|
Het |
| Slc27a5 |
T |
G |
7: 12,725,247 (GRCm39) |
H400P |
probably damaging |
Het |
| Slc9c1 |
C |
A |
16: 45,420,144 (GRCm39) |
D1066E |
possibly damaging |
Het |
| Tap1 |
T |
C |
17: 34,413,956 (GRCm39) |
|
probably null |
Het |
| Tmem198 |
G |
A |
1: 75,456,426 (GRCm39) |
A27T |
unknown |
Het |
| Tpx2 |
A |
G |
2: 152,727,124 (GRCm39) |
T464A |
possibly damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,602 (GRCm39) |
T238I |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,330,295 (GRCm39) |
V551A |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,658 (GRCm39) |
T509A |
probably benign |
Het |
|
| Other mutations in Pcdhga7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
micro
|
UTSW |
18 |
37,850,327 (GRCm39) |
missense |
probably benign |
0.04 |
|
milli
|
UTSW |
18 |
37,849,483 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3012:Pcdhga7
|
UTSW |
18 |
37,848,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3950:Pcdhga7
|
UTSW |
18 |
37,849,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Pcdhga7
|
UTSW |
18 |
37,850,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4985:Pcdhga7
|
UTSW |
18 |
37,848,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5073:Pcdhga7
|
UTSW |
18 |
37,849,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Pcdhga7
|
UTSW |
18 |
37,850,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5424:Pcdhga7
|
UTSW |
18 |
37,848,388 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5534:Pcdhga7
|
UTSW |
18 |
37,849,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Pcdhga7
|
UTSW |
18 |
37,848,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5689:Pcdhga7
|
UTSW |
18 |
37,849,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6200:Pcdhga7
|
UTSW |
18 |
37,849,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Pcdhga7
|
UTSW |
18 |
37,849,483 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6597:Pcdhga7
|
UTSW |
18 |
37,850,059 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6684:Pcdhga7
|
UTSW |
18 |
37,849,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Pcdhga7
|
UTSW |
18 |
37,850,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6810:Pcdhga7
|
UTSW |
18 |
37,848,926 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6920:Pcdhga7
|
UTSW |
18 |
37,848,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6922:Pcdhga7
|
UTSW |
18 |
37,848,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7051:Pcdhga7
|
UTSW |
18 |
37,849,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Pcdhga7
|
UTSW |
18 |
37,850,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7265:Pcdhga7
|
UTSW |
18 |
37,849,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Pcdhga7
|
UTSW |
18 |
37,850,327 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7450:Pcdhga7
|
UTSW |
18 |
37,849,079 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7451:Pcdhga7
|
UTSW |
18 |
37,849,057 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7790:Pcdhga7
|
UTSW |
18 |
37,847,996 (GRCm39) |
start codon destroyed |
probably null |
0.85 |
|
R7833:Pcdhga7
|
UTSW |
18 |
37,849,077 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7922:Pcdhga7
|
UTSW |
18 |
37,849,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7935:Pcdhga7
|
UTSW |
18 |
37,849,562 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8007:Pcdhga7
|
UTSW |
18 |
37,849,946 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8073:Pcdhga7
|
UTSW |
18 |
37,848,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Pcdhga7
|
UTSW |
18 |
37,848,146 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8962:Pcdhga7
|
UTSW |
18 |
37,848,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9684:Pcdhga7
|
UTSW |
18 |
37,848,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCACACGCCAGTCTTCTC -3'
(R):5'- AGAAGAGAGCGATCACTGTCC -3'
Sequencing Primer
(F):5'- TGTATCAAGCGACAGTCCCTGAG -3'
(R):5'- AGCGATCACTGTCCCAGGTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation