Incidental Mutation 'PIT4581001:Pcdhga5'
ID |
556535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga5
|
Ensembl Gene |
ENSMUSG00000103567 |
Gene Name |
protocadherin gamma subfamily A, 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
PIT4581001 (G1)
|
Quality Score |
196.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37827433-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37829910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 786
(E786G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
|
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: E786G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000141893 Gene: ENSMUSG00000103567 AA Change: E786G
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 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: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
T |
C |
3: 89,251,139 (GRCm39) |
H522R |
probably benign |
Het |
Adcy8 |
A |
T |
15: 64,626,666 (GRCm39) |
I724N |
probably damaging |
Het |
Cdk2ap1rt |
A |
G |
11: 48,716,971 (GRCm39) |
I69T |
possibly damaging |
Het |
Cstdc6 |
T |
C |
16: 36,143,294 (GRCm39) |
I52V |
probably benign |
Het |
Ctsj |
A |
T |
13: 61,150,370 (GRCm39) |
C210S |
probably damaging |
Het |
Cyp2d12 |
A |
G |
15: 82,442,652 (GRCm39) |
E365G |
probably damaging |
Het |
Dbi |
A |
T |
1: 120,047,642 (GRCm39) |
V85E |
probably damaging |
Het |
Dhrs7b |
A |
G |
11: 60,742,723 (GRCm39) |
I153M |
possibly damaging |
Het |
Dock10 |
C |
A |
1: 80,483,163 (GRCm39) |
C2096F |
probably damaging |
Het |
Eid3 |
T |
A |
10: 82,703,589 (GRCm39) |
I350K |
probably damaging |
Het |
Fam83b |
A |
T |
9: 76,398,434 (GRCm39) |
F890I |
probably damaging |
Het |
Fras1 |
G |
A |
5: 96,703,160 (GRCm39) |
D308N |
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,140,302 (GRCm39) |
D822G |
unknown |
Het |
Gabra5 |
T |
C |
7: 57,138,605 (GRCm39) |
T148A |
probably damaging |
Het |
Gad1 |
A |
G |
2: 70,430,011 (GRCm39) |
D526G |
probably benign |
Het |
Gm21698 |
T |
A |
5: 26,192,350 (GRCm39) |
T79S |
probably benign |
Het |
Gon4l |
T |
G |
3: 88,802,821 (GRCm39) |
V1144G |
probably damaging |
Het |
Ighv1-24 |
A |
T |
12: 114,736,803 (GRCm39) |
N32K |
probably benign |
Het |
Islr |
T |
C |
9: 58,064,484 (GRCm39) |
N341S |
possibly damaging |
Het |
Mybph |
A |
G |
1: 134,122,479 (GRCm39) |
T175A |
probably benign |
Het |
Mycn |
T |
C |
12: 12,990,244 (GRCm39) |
K51E |
possibly damaging |
Het |
Myh14 |
T |
C |
7: 44,262,906 (GRCm39) |
N1763D |
probably benign |
Het |
Myrip |
T |
C |
9: 120,296,583 (GRCm39) |
S831P |
probably damaging |
Het |
Neb |
G |
T |
2: 52,178,814 (GRCm39) |
A1314E |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,011,778 (GRCm39) |
Y599H |
probably damaging |
Het |
Npr1 |
C |
A |
3: 90,369,564 (GRCm39) |
G387V |
probably damaging |
Het |
Or6e1 |
T |
A |
14: 54,519,995 (GRCm39) |
D119V |
probably damaging |
Het |
Orai2 |
G |
A |
5: 136,179,364 (GRCm39) |
T223M |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,576,374 (GRCm39) |
T749A |
probably benign |
Het |
Pdzrn3 |
A |
G |
6: 101,128,464 (GRCm39) |
V734A |
probably benign |
Het |
Pkd1l1 |
GCC |
GCCC |
11: 8,866,298 (GRCm39) |
|
probably null |
Het |
Recql5 |
C |
A |
11: 115,823,682 (GRCm39) |
K21N |
possibly damaging |
Het |
Rimbp3 |
G |
A |
16: 17,028,580 (GRCm39) |
S668N |
possibly damaging |
Het |
Sdr42e1 |
A |
T |
8: 118,390,257 (GRCm39) |
I128N |
probably damaging |
Het |
Shprh |
TAAAA |
T |
10: 11,068,238 (GRCm39) |
|
probably null |
Het |
Slc15a2 |
A |
T |
16: 36,592,405 (GRCm39) |
C251S |
probably benign |
Het |
Slc17a4 |
A |
T |
13: 24,086,001 (GRCm39) |
S329T |
probably damaging |
Het |
Slc35a1 |
A |
G |
4: 34,669,501 (GRCm39) |
V246A |
possibly damaging |
Het |
Slc37a2 |
A |
T |
9: 37,148,701 (GRCm39) |
S260R |
probably benign |
Het |
Slco6d1 |
A |
T |
1: 98,351,050 (GRCm39) |
I177L |
possibly damaging |
Het |
Tmcc1 |
A |
G |
6: 116,020,417 (GRCm39) |
V345A |
|
Het |
Tmod2 |
T |
C |
9: 75,504,583 (GRCm39) |
Y12C |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,893,790 (GRCm39) |
W1035R |
probably damaging |
Het |
Trpc1 |
A |
G |
9: 95,618,974 (GRCm39) |
S126P |
probably benign |
Het |
Ttn |
A |
G |
2: 76,564,305 (GRCm39) |
S28576P |
probably damaging |
Het |
Vmn1r16 |
A |
T |
6: 57,299,858 (GRCm39) |
W255R |
probably benign |
Het |
Vmn2r5 |
T |
A |
3: 64,411,348 (GRCm39) |
K407* |
probably null |
Het |
Vps13b |
G |
T |
15: 35,534,409 (GRCm39) |
W908C |
probably damaging |
Het |
Ykt6 |
A |
G |
11: 5,912,747 (GRCm39) |
K150E |
possibly damaging |
Het |
Zbtb2 |
A |
G |
10: 4,319,265 (GRCm39) |
Y254H |
possibly damaging |
Het |
Zfp217 |
A |
G |
2: 169,956,503 (GRCm39) |
S832P |
probably benign |
Het |
Zfp595 |
A |
G |
13: 67,465,949 (GRCm39) |
S108P |
probably benign |
Het |
Zfp786 |
A |
T |
6: 47,796,756 (GRCm39) |
F727L |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,790,498 (GRCm39) |
V2151I |
probably benign |
Het |
|
Other mutations in Pcdhga5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6271:Pcdhga5
|
UTSW |
18 |
37,829,735 (GRCm39) |
missense |
probably benign |
0.01 |
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'- ACTCTACCTAGTGGTTTCGGTG -3'
(R):5'- CAAATGATGCTCCACTGTATCC -3'
Sequencing Primer
(F):5'- TTCAGACTTCCACAGGCAGATTGG -3'
(R):5'- ATGATGCTCCACTGTATCCAATTTTG -3'
|
Posted On |
2019-06-07 |