Incidental Mutation 'R9150:Pcdhga5'
ID |
694999 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga5
|
Ensembl Gene |
ENSMUSG00000103567 |
Gene Name |
protocadherin gamma subfamily A, 5 |
Synonyms |
|
MMRRC Submission |
068938-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R9150 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37827433-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 37827933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 127
(N127T)
|
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 damaging
Transcript: ENSMUST00000193414
AA Change: N127T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141893 Gene: ENSMUSG00000103567 AA Change: N127T
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 |
|
Meta Mutation Damage Score |
0.8837 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (56/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
CTCCGGTGAGTGCCTCATCC |
CTCC |
5: 137,553,354 (GRCm39) |
|
probably null |
Het |
Ampd1 |
A |
T |
3: 102,988,359 (GRCm39) |
I101F |
possibly damaging |
Het |
Arhgap11a |
A |
G |
2: 113,673,614 (GRCm39) |
V92A |
possibly damaging |
Het |
Arih1 |
C |
A |
9: 59,344,069 (GRCm39) |
L189F |
possibly damaging |
Het |
B4galt3 |
A |
G |
1: 171,103,899 (GRCm39) |
R379G |
probably benign |
Het |
Capn12 |
A |
G |
7: 28,590,378 (GRCm39) |
N642D |
probably benign |
Het |
Cdc42ep3 |
T |
C |
17: 79,642,299 (GRCm39) |
H207R |
probably benign |
Het |
Dcps |
A |
T |
9: 35,035,938 (GRCm39) |
L316H |
probably damaging |
Het |
Dmgdh |
A |
G |
13: 93,825,103 (GRCm39) |
Y142C |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,140,607 (GRCm39) |
V300A |
probably damaging |
Het |
Eml6 |
A |
T |
11: 29,755,791 (GRCm39) |
V821E |
probably benign |
Het |
Fam181a |
A |
T |
12: 103,282,139 (GRCm39) |
N15Y |
probably damaging |
Het |
Gm26657 |
G |
T |
4: 56,740,835 (GRCm39) |
E7* |
probably null |
Het |
Gm8267 |
A |
T |
14: 44,955,362 (GRCm39) |
S220T |
probably benign |
Het |
Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
Gpr158 |
G |
A |
2: 21,831,251 (GRCm39) |
G784R |
probably benign |
Het |
Grm2 |
A |
G |
9: 106,524,657 (GRCm39) |
L215P |
|
Het |
Gtpbp1 |
A |
G |
15: 79,592,165 (GRCm39) |
D252G |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,103,448 (GRCm39) |
V1135A |
probably benign |
Het |
Irag1 |
T |
C |
7: 110,498,205 (GRCm39) |
T397A |
probably benign |
Het |
Lrrc8e |
A |
C |
8: 4,286,030 (GRCm39) |
K752Q |
probably benign |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Mapre2 |
A |
G |
18: 23,991,208 (GRCm39) |
T201A |
probably benign |
Het |
Mcm9 |
A |
T |
10: 53,502,110 (GRCm39) |
N85K |
|
Het |
Mdga1 |
T |
C |
17: 30,057,420 (GRCm39) |
T92A |
probably damaging |
Het |
Nemf |
A |
C |
12: 69,387,820 (GRCm39) |
D421E |
probably benign |
Het |
Oga |
A |
T |
19: 45,771,421 (GRCm39) |
V50E |
probably benign |
Het |
Or13g1 |
G |
C |
7: 85,955,942 (GRCm39) |
F126L |
probably damaging |
Het |
Or5k14 |
G |
T |
16: 58,693,005 (GRCm39) |
C169* |
probably null |
Het |
Or5m3 |
A |
T |
2: 85,838,626 (GRCm39) |
K169* |
probably null |
Het |
Or8k53 |
A |
T |
2: 86,177,336 (GRCm39) |
M258K |
probably damaging |
Het |
Phyhipl |
A |
T |
10: 70,404,887 (GRCm39) |
V107E |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,786,256 (GRCm39) |
R2383C |
|
Het |
Ppp1r16a |
G |
A |
15: 76,575,054 (GRCm39) |
|
probably benign |
Het |
Pramel20 |
A |
G |
4: 143,298,531 (GRCm39) |
Y158C |
probably benign |
Het |
Rnf41 |
T |
C |
10: 128,272,399 (GRCm39) |
V142A |
|
Het |
Sgcd |
C |
T |
11: 46,870,170 (GRCm39) |
V264I |
probably damaging |
Het |
Six2 |
A |
G |
17: 85,992,763 (GRCm39) |
S247P |
probably benign |
Het |
Slc17a7 |
T |
G |
7: 44,820,167 (GRCm39) |
Y241D |
probably damaging |
Het |
Slc30a5 |
T |
A |
13: 100,939,915 (GRCm39) |
K724* |
probably null |
Het |
Slitrk1 |
T |
A |
14: 109,149,101 (GRCm39) |
I537F |
possibly damaging |
Het |
Sp140l2 |
T |
A |
1: 85,091,359 (GRCm39) |
Q33L |
probably damaging |
Het |
Spen |
C |
T |
4: 141,244,468 (GRCm39) |
R189Q |
unknown |
Het |
Srd5a3 |
T |
A |
5: 76,297,615 (GRCm39) |
L139Q |
probably damaging |
Het |
Tgfbrap1 |
A |
T |
1: 43,114,985 (GRCm39) |
Y38* |
probably null |
Het |
Tln2 |
A |
T |
9: 67,128,778 (GRCm39) |
M1437K |
probably damaging |
Het |
Tmem87b |
T |
C |
2: 128,687,401 (GRCm39) |
I467T |
probably damaging |
Het |
Tnfrsf21 |
T |
A |
17: 43,398,691 (GRCm39) |
I599N |
probably damaging |
Het |
Trmt112 |
T |
A |
19: 6,887,620 (GRCm39) |
L23Q |
probably damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,654,056 (GRCm39) |
N178K |
probably damaging |
Het |
Ttc23 |
A |
G |
7: 67,375,850 (GRCm39) |
Y476C |
probably damaging |
Het |
Twf1 |
A |
T |
15: 94,484,274 (GRCm39) |
W83R |
probably damaging |
Het |
Vmn2r14 |
T |
A |
5: 109,367,783 (GRCm39) |
H403L |
probably damaging |
Het |
Wiz |
A |
T |
17: 32,586,809 (GRCm39) |
I167N |
probably benign |
Het |
Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
probably benign |
Het |
Zfp618 |
C |
T |
4: 63,039,603 (GRCm39) |
Q401* |
probably null |
Het |
Zfp715 |
T |
A |
7: 42,948,713 (GRCm39) |
I416F |
possibly damaging |
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 |
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 |
Z1177:Pcdhga5
|
UTSW |
18 |
37,828,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTATCTCCAGAGGTAGGTCGC -3'
(R):5'- GCTGTTCCAACACCAACTCTG -3'
Sequencing Primer
(F):5'- CAGAGGTAGGTCGCAGCTTTTC -3'
(R):5'- GTCAGATCCGCTCTTCACG -3'
|
Posted On |
2022-01-20 |