Incidental Mutation 'R6597:Pcdhga7'
ID |
524999 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga7
|
Ensembl Gene |
ENSMUSG00000103472 |
Gene Name |
protocadherin gamma subfamily A, 7 |
Synonyms |
|
MMRRC Submission |
044721-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.262)
|
Stock # |
R6597 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37847887-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37850059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 689
(S689P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193476]
[ENSMUST00000194544]
[ENSMUST00000194190]
[ENSMUST00000193869]
[ENSMUST00000194418]
[ENSMUST00000195823]
[ENSMUST00000195112]
[ENSMUST00000195363]
|
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: S689P
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000141704 Gene: ENSMUSG00000103472 AA Change: S689P
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: S689P
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000142126 Gene: ENSMUSG00000103472 AA Change: S689P
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 |
noncoding transcript
Transcript: ENSMUST00000193815
|
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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000195069
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (50/50) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,625,080 (GRCm39) |
Y486C |
probably damaging |
Het |
Asb17 |
A |
T |
3: 153,550,321 (GRCm39) |
T118S |
probably damaging |
Het |
Atl2 |
T |
A |
17: 80,160,195 (GRCm39) |
D293V |
possibly damaging |
Het |
Bbs1 |
T |
A |
19: 4,949,334 (GRCm39) |
M242L |
probably benign |
Het |
Btg1 |
T |
A |
10: 96,454,182 (GRCm39) |
S65T |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,834,902 (GRCm39) |
D1101G |
possibly damaging |
Het |
Cmpk2 |
G |
T |
12: 26,524,144 (GRCm39) |
V314L |
possibly damaging |
Het |
Fbxl8 |
A |
C |
8: 105,995,523 (GRCm39) |
D345A |
probably benign |
Het |
Gys2 |
T |
A |
6: 142,402,035 (GRCm39) |
H268L |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,491,403 (GRCm39) |
R117* |
probably null |
Het |
Hoxd10 |
G |
A |
2: 74,522,984 (GRCm39) |
A221T |
probably benign |
Het |
Hspa13 |
A |
T |
16: 75,562,085 (GRCm39) |
L38Q |
probably damaging |
Het |
Inava |
G |
T |
1: 136,153,927 (GRCm39) |
A87E |
probably damaging |
Het |
Ipo11 |
A |
G |
13: 107,002,371 (GRCm39) |
|
probably null |
Het |
Itgb8 |
A |
G |
12: 119,137,133 (GRCm39) |
V390A |
possibly damaging |
Het |
Kalrn |
T |
A |
16: 34,003,117 (GRCm39) |
I1370F |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,276,485 (GRCm39) |
N6086S |
probably damaging |
Het |
Ms4a13 |
T |
C |
19: 11,170,303 (GRCm39) |
T14A |
probably benign |
Het |
Or11g26 |
T |
A |
14: 50,753,008 (GRCm39) |
C116S |
probably benign |
Het |
Or55b10 |
A |
T |
7: 102,143,628 (GRCm39) |
I118N |
probably damaging |
Het |
Or5ac22 |
C |
T |
16: 59,135,713 (GRCm39) |
R19H |
probably benign |
Het |
Or5d37 |
A |
G |
2: 87,923,413 (GRCm39) |
F289S |
probably damaging |
Het |
Or8b47 |
A |
T |
9: 38,435,300 (GRCm39) |
I91F |
probably benign |
Het |
Or9q1 |
T |
A |
19: 13,805,821 (GRCm39) |
|
probably benign |
Het |
Patl2 |
T |
A |
2: 122,016,645 (GRCm39) |
|
probably benign |
Het |
Pitpnc1 |
G |
T |
11: 107,117,058 (GRCm39) |
Y227* |
probably null |
Het |
Pla2g2e |
T |
C |
4: 138,607,984 (GRCm39) |
V22A |
unknown |
Het |
Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
Prl3b1 |
G |
A |
13: 27,431,957 (GRCm39) |
|
probably null |
Het |
Rabgef1 |
G |
A |
5: 130,219,885 (GRCm39) |
|
probably null |
Het |
Rhot2 |
A |
T |
17: 26,059,886 (GRCm39) |
W341R |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,482,381 (GRCm39) |
W286R |
probably benign |
Het |
Rrs1 |
A |
G |
1: 9,616,601 (GRCm39) |
T285A |
probably damaging |
Het |
Shc3 |
T |
A |
13: 51,597,009 (GRCm39) |
D338V |
possibly damaging |
Het |
Siglech |
A |
T |
7: 55,418,211 (GRCm39) |
M60L |
probably benign |
Het |
Slc12a6 |
G |
T |
2: 112,183,280 (GRCm39) |
V756F |
probably damaging |
Het |
Slc43a2 |
G |
A |
11: 75,462,681 (GRCm39) |
G507D |
probably damaging |
Het |
Slf1 |
A |
G |
13: 77,197,248 (GRCm39) |
S789P |
probably benign |
Het |
Spata31d1d |
C |
A |
13: 59,873,871 (GRCm39) |
M1221I |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,628,276 (GRCm39) |
N899D |
probably benign |
Het |
Stag1 |
G |
A |
9: 100,769,473 (GRCm39) |
M529I |
probably benign |
Het |
Tekt3 |
A |
G |
11: 62,972,085 (GRCm39) |
D247G |
probably benign |
Het |
Tmppe |
A |
T |
9: 114,234,312 (GRCm39) |
M204L |
probably benign |
Het |
Tpsg1 |
G |
A |
17: 25,588,271 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,628,315 (GRCm39) |
V6288A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,723,444 (GRCm39) |
|
probably benign |
Het |
Twsg1 |
C |
A |
17: 66,244,799 (GRCm39) |
V73F |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,914,450 (GRCm39) |
T672A |
probably damaging |
Het |
Vps36 |
A |
G |
8: 22,692,320 (GRCm39) |
I66V |
probably benign |
Het |
Xrcc4 |
A |
T |
13: 90,149,048 (GRCm39) |
D157E |
probably benign |
Het |
Zbbx |
T |
A |
3: 75,043,761 (GRCm39) |
Q162L |
probably damaging |
Het |
Zfp560 |
T |
A |
9: 20,259,297 (GRCm39) |
I522L |
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,479,539 (GRCm39) |
N984S |
probably damaging |
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 |
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 |
R9191:Pcdhga7
|
UTSW |
18 |
37,848,932 (GRCm39) |
missense |
probably benign |
0.00 |
R9684:Pcdhga7
|
UTSW |
18 |
37,848,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAAGCCAGTGAGCCAGG -3'
(R):5'- CTACAAAGTGTGAGGCAGGC -3'
Sequencing Primer
(F):5'- TTCTCAGTAGGGCTACACACTGG -3'
(R):5'- AGTGTGAGGCAGGCACATCTTC -3'
|
Posted On |
2018-06-22 |