Incidental Mutation 'R6271:Pcdhga5'
ID |
507369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga5
|
Ensembl Gene |
ENSMUSG00000103567 |
Gene Name |
protocadherin gamma subfamily A, 5 |
Synonyms |
|
MMRRC Submission |
044379-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R6271 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37827433-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37829735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 728
(S728P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000195112]
[ENSMUST00000194544]
|
AlphaFold |
Q91XY3 |
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
AA Change: S728P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141893 Gene: ENSMUSG00000103567 AA Change: S728P
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 |
noncoding transcript
Transcript: ENSMUST00000193631
|
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: 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
G |
T |
4: 132,792,035 (GRCm39) |
C1092F |
possibly damaging |
Het |
Aplf |
T |
C |
6: 87,623,230 (GRCm39) |
E304G |
possibly damaging |
Het |
Atp12a |
A |
G |
14: 56,615,879 (GRCm39) |
D547G |
probably benign |
Het |
B3gat2 |
T |
C |
1: 23,854,342 (GRCm39) |
L212P |
probably damaging |
Het |
Babam2 |
G |
T |
5: 32,158,706 (GRCm39) |
A219S |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,322,753 (GRCm39) |
S618R |
possibly damaging |
Het |
Ces2c |
G |
A |
8: 105,578,748 (GRCm39) |
G342D |
probably damaging |
Het |
Cfap57 |
A |
C |
4: 118,452,956 (GRCm39) |
D582E |
probably benign |
Het |
Cisd2 |
T |
C |
3: 135,114,627 (GRCm39) |
N115D |
possibly damaging |
Het |
Cyp17a1 |
A |
G |
19: 46,661,159 (GRCm39) |
F42L |
probably benign |
Het |
Fam234a |
T |
C |
17: 26,437,211 (GRCm39) |
D156G |
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,513,767 (GRCm39) |
I1554K |
probably benign |
Het |
Fv1 |
A |
G |
4: 147,954,474 (GRCm39) |
T347A |
possibly damaging |
Het |
Gm5134 |
T |
A |
10: 75,831,643 (GRCm39) |
C361S |
probably benign |
Het |
Grin3a |
T |
C |
4: 49,792,516 (GRCm39) |
I406V |
probably benign |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Ifna13 |
A |
C |
4: 88,562,082 (GRCm39) |
L181V |
possibly damaging |
Het |
Irx4 |
A |
G |
13: 73,414,713 (GRCm39) |
|
probably null |
Het |
Kcna3 |
T |
A |
3: 106,944,922 (GRCm39) |
M395K |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 23,559,957 (GRCm39) |
V347D |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,822,698 (GRCm39) |
V218E |
probably benign |
Het |
Krt36 |
G |
A |
11: 99,995,298 (GRCm39) |
Q167* |
probably null |
Het |
Lama2 |
T |
C |
10: 26,899,325 (GRCm39) |
D2457G |
possibly damaging |
Het |
Ldah |
G |
A |
12: 8,318,599 (GRCm39) |
|
probably null |
Het |
Lhfpl3 |
G |
T |
5: 22,951,242 (GRCm39) |
A18S |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,956,851 (GRCm39) |
|
probably null |
Het |
Ltv1 |
T |
C |
10: 13,055,445 (GRCm39) |
Y352C |
probably damaging |
Het |
Lyst |
G |
T |
13: 13,833,339 (GRCm39) |
M1720I |
probably benign |
Het |
Mkx |
A |
T |
18: 6,937,059 (GRCm39) |
|
probably null |
Het |
Myo18a |
A |
G |
11: 77,711,635 (GRCm39) |
H626R |
probably damaging |
Het |
Nop9 |
A |
C |
14: 55,991,198 (GRCm39) |
Q618H |
probably damaging |
Het |
Or12k5 |
T |
C |
2: 36,895,554 (GRCm39) |
Q24R |
probably damaging |
Het |
Or4c12b |
T |
C |
2: 89,646,906 (GRCm39) |
S73P |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
Or8c9 |
T |
C |
9: 38,241,578 (GRCm39) |
S232P |
probably benign |
Het |
Otog |
C |
A |
7: 45,901,464 (GRCm39) |
Q388K |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Oxct2b |
T |
G |
4: 123,011,508 (GRCm39) |
V476G |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,126,202 (GRCm39) |
T329A |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,221,671 (GRCm39) |
H574Q |
probably damaging |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Preb |
C |
A |
5: 31,115,395 (GRCm39) |
V255F |
probably damaging |
Het |
Prmt9 |
A |
G |
8: 78,304,092 (GRCm39) |
N725S |
probably damaging |
Het |
Ric1 |
A |
T |
19: 29,544,765 (GRCm39) |
|
probably null |
Het |
Semp2l1 |
T |
A |
1: 32,584,572 (GRCm39) |
D446V |
probably damaging |
Het |
Serinc3 |
G |
C |
2: 163,472,896 (GRCm39) |
L245V |
probably benign |
Het |
Sgce |
T |
C |
6: 4,730,015 (GRCm39) |
K70E |
possibly damaging |
Het |
Simc1 |
T |
G |
13: 54,687,537 (GRCm39) |
V102G |
probably damaging |
Het |
Slc66a3 |
T |
C |
12: 17,047,704 (GRCm39) |
D76G |
probably damaging |
Het |
Smyd2 |
A |
G |
1: 189,616,049 (GRCm39) |
Y362H |
probably damaging |
Het |
Sptbn1 |
G |
T |
11: 30,050,660 (GRCm39) |
H2310N |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,184,652 (GRCm39) |
Y4077C |
probably damaging |
Het |
Syne2 |
C |
A |
12: 75,937,155 (GRCm39) |
A251E |
probably damaging |
Het |
Taok1 |
A |
T |
11: 77,464,609 (GRCm39) |
L159Q |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Timeless |
T |
C |
10: 128,086,593 (GRCm39) |
L1043P |
probably damaging |
Het |
Tmprss3 |
T |
C |
17: 31,405,536 (GRCm39) |
E352G |
probably damaging |
Het |
Trav6-4 |
A |
T |
14: 53,692,039 (GRCm39) |
T46S |
probably benign |
Het |
Ubiad1 |
A |
T |
4: 148,521,083 (GRCm39) |
Y180* |
probably null |
Het |
Usp47 |
A |
G |
7: 111,686,263 (GRCm39) |
E627G |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,283,145 (GRCm39) |
T280A |
probably benign |
Het |
|
Other mutations in Pcdhga5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4581001:Pcdhga5
|
UTSW |
18 |
37,829,910 (GRCm39) |
missense |
probably benign |
0.01 |
R3775:Pcdhga5
|
UTSW |
18 |
37,828,167 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4232:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4234:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4235:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4815:Pcdhga5
|
UTSW |
18 |
37,828,247 (GRCm39) |
missense |
probably damaging |
0.99 |
R4884:Pcdhga5
|
UTSW |
18 |
37,827,680 (GRCm39) |
missense |
probably damaging |
0.99 |
R5159:Pcdhga5
|
UTSW |
18 |
37,828,719 (GRCm39) |
missense |
probably benign |
0.24 |
R5279:Pcdhga5
|
UTSW |
18 |
37,827,774 (GRCm39) |
missense |
probably benign |
0.12 |
R5393:Pcdhga5
|
UTSW |
18 |
37,829,720 (GRCm39) |
missense |
probably benign |
0.25 |
R6574:Pcdhga5
|
UTSW |
18 |
37,828,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R7727:Pcdhga5
|
UTSW |
18 |
37,828,098 (GRCm39) |
missense |
probably benign |
0.41 |
R7747:Pcdhga5
|
UTSW |
18 |
37,829,835 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7775:Pcdhga5
|
UTSW |
18 |
37,828,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R7778:Pcdhga5
|
UTSW |
18 |
37,828,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R7819:Pcdhga5
|
UTSW |
18 |
37,829,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R8745:Pcdhga5
|
UTSW |
18 |
37,828,974 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8773:Pcdhga5
|
UTSW |
18 |
37,829,823 (GRCm39) |
missense |
probably benign |
0.07 |
R8780:Pcdhga5
|
UTSW |
18 |
37,828,826 (GRCm39) |
missense |
probably benign |
0.00 |
R8783:Pcdhga5
|
UTSW |
18 |
37,828,596 (GRCm39) |
missense |
probably benign |
0.00 |
R9072:Pcdhga5
|
UTSW |
18 |
37,829,537 (GRCm39) |
missense |
probably benign |
0.00 |
R9150:Pcdhga5
|
UTSW |
18 |
37,827,933 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pcdhga5
|
UTSW |
18 |
37,828,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACACTCACTATCGCTGTAGG -3'
(R):5'- GAGGCTCACTCTTCTCACAG -3'
Sequencing Primer
(F):5'- CTATCGCTGTAGGAGATAGCATCC -3'
(R):5'- ACAGCTCTCTTCACTAATGAGC -3'
|
Posted On |
2018-03-15 |