Incidental Mutation 'IGL03263:Mas1'
ID |
414959 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mas1
|
Ensembl Gene |
ENSMUSG00000068037 |
Gene Name |
MAS1 oncogene |
Synonyms |
Mas receptor, Mas-1, MasR |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03263
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
13059966-13087030 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13060451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 324
(V324A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089015]
[ENSMUST00000159223]
[ENSMUST00000159865]
[ENSMUST00000161747]
[ENSMUST00000162119]
[ENSMUST00000167152]
[ENSMUST00000162333]
[ENSMUST00000165020]
[ENSMUST00000162389]
|
AlphaFold |
P30554 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089015
AA Change: V324A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000086409 Gene: ENSMUSG00000068037 AA Change: V324A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
39 |
227 |
3.6e-7 |
PFAM |
Pfam:7tm_1
|
48 |
279 |
3.1e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159223
|
SMART Domains |
Protein: ENSMUSP00000124295 Gene: ENSMUSG00000068037
Domain | Start | End | E-Value | Type |
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159865
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160932
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161747
AA Change: V324A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123902 Gene: ENSMUSG00000068037 AA Change: V324A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
39 |
227 |
3.6e-7 |
PFAM |
Pfam:7tm_1
|
48 |
279 |
3.1e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162119
|
SMART Domains |
Protein: ENSMUSP00000124952 Gene: ENSMUSG00000068037
Domain | Start | End | E-Value | Type |
SCOP:d1l9ha_
|
31 |
92 |
1e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167152
AA Change: V324A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131341 Gene: ENSMUSG00000068037 AA Change: V324A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
39 |
227 |
3.6e-7 |
PFAM |
Pfam:7tm_1
|
48 |
279 |
3.1e-23 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162333
AA Change: V324A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125108 Gene: ENSMUSG00000068037 AA Change: V324A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
39 |
226 |
2.6e-7 |
PFAM |
Pfam:7tm_1
|
48 |
279 |
5.7e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165020
AA Change: V324A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132300 Gene: ENSMUSG00000068037 AA Change: V324A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
39 |
227 |
3.6e-7 |
PFAM |
Pfam:7tm_1
|
48 |
279 |
3.1e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162389
|
SMART Domains |
Protein: ENSMUSP00000124879 Gene: ENSMUSG00000068037
Domain | Start | End | E-Value | Type |
SCOP:d1l9ha_
|
31 |
76 |
1e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012] PHENOTYPE: Mice homozygous for disruptions in this gene show enhanced long term potentiation and higher levels of anxiety. They are otherwise normal and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
A |
5: 138,562,499 (GRCm39) |
I81F |
probably damaging |
Het |
Acacb |
C |
T |
5: 114,351,754 (GRCm39) |
H1164Y |
probably damaging |
Het |
Adamts5 |
A |
T |
16: 85,666,830 (GRCm39) |
V554E |
probably damaging |
Het |
Asns |
G |
A |
6: 7,689,404 (GRCm39) |
R33C |
probably benign |
Het |
BC051076 |
T |
G |
5: 88,111,977 (GRCm39) |
|
noncoding transcript |
Het |
Bcas3 |
C |
T |
11: 85,712,948 (GRCm39) |
|
probably benign |
Het |
Bpifb1 |
A |
G |
2: 154,057,226 (GRCm39) |
M395V |
probably benign |
Het |
Cdcp1 |
C |
A |
9: 123,009,152 (GRCm39) |
V509L |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,865,926 (GRCm39) |
T277A |
possibly damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Clca4a |
T |
A |
3: 144,672,192 (GRCm39) |
E250V |
probably damaging |
Het |
Cplx4 |
T |
C |
18: 66,100,559 (GRCm39) |
D79G |
probably benign |
Het |
Dcaf11 |
A |
G |
14: 55,802,949 (GRCm39) |
D246G |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,420,207 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
T |
9: 106,807,330 (GRCm39) |
|
probably benign |
Het |
Fam170a |
T |
C |
18: 50,413,588 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
A |
7: 129,782,149 (GRCm39) |
M423L |
probably benign |
Het |
Gabra2 |
A |
G |
5: 71,130,836 (GRCm39) |
F331L |
probably damaging |
Het |
Galnt18 |
C |
T |
7: 111,119,321 (GRCm39) |
R400Q |
probably damaging |
Het |
H2-M11 |
A |
T |
17: 36,859,805 (GRCm39) |
Q266L |
probably damaging |
Het |
Igf2bp1 |
A |
T |
11: 95,857,499 (GRCm39) |
V502D |
probably damaging |
Het |
Ik |
A |
G |
18: 36,881,699 (GRCm39) |
N111S |
probably damaging |
Het |
Intu |
T |
A |
3: 40,627,027 (GRCm39) |
Y269* |
probably null |
Het |
Krt82 |
T |
C |
15: 101,450,307 (GRCm39) |
Y463C |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,588,628 (GRCm39) |
M507T |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,504,525 (GRCm39) |
V2481A |
possibly damaging |
Het |
Mag |
T |
G |
7: 30,598,953 (GRCm39) |
|
probably null |
Het |
Map7 |
T |
A |
10: 20,121,068 (GRCm39) |
Y121* |
probably null |
Het |
Marchf6 |
A |
G |
15: 31,486,508 (GRCm39) |
I349T |
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,372,832 (GRCm39) |
W259R |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,373,827 (GRCm39) |
Y164* |
probably null |
Het |
Or52e5 |
T |
A |
7: 104,719,209 (GRCm39) |
H178Q |
probably damaging |
Het |
Or8b38 |
A |
T |
9: 37,973,009 (GRCm39) |
Y131F |
probably damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,429,059 (GRCm39) |
D344G |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,731,824 (GRCm39) |
V3442A |
unknown |
Het |
Polr3c |
C |
T |
3: 96,621,567 (GRCm39) |
|
probably benign |
Het |
Ppp2r2d |
C |
T |
7: 138,474,651 (GRCm39) |
R11* |
probably null |
Het |
Ptgfr |
T |
A |
3: 151,541,500 (GRCm39) |
M3L |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,601,903 (GRCm39) |
S741G |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,980,273 (GRCm39) |
V490A |
probably damaging |
Het |
Samd7 |
T |
A |
3: 30,816,302 (GRCm39) |
H349Q |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,302,482 (GRCm39) |
N199S |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,667,305 (GRCm39) |
K794N |
possibly damaging |
Het |
Spta1 |
C |
T |
1: 174,041,484 (GRCm39) |
A1316V |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,240,575 (GRCm39) |
E410G |
probably benign |
Het |
Washc2 |
T |
A |
6: 116,215,084 (GRCm39) |
|
probably benign |
Het |
Wdr72 |
A |
C |
9: 74,064,711 (GRCm39) |
Y581S |
probably damaging |
Het |
Zdhhc17 |
T |
C |
10: 110,796,877 (GRCm39) |
D298G |
probably damaging |
Het |
|
Other mutations in Mas1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Mas1
|
APN |
17 |
13,060,877 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00583:Mas1
|
APN |
17 |
13,060,852 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01805:Mas1
|
APN |
17 |
13,061,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R0732:Mas1
|
UTSW |
17 |
13,060,634 (GRCm39) |
missense |
probably benign |
0.17 |
R1768:Mas1
|
UTSW |
17 |
13,060,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Mas1
|
UTSW |
17 |
13,061,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R1967:Mas1
|
UTSW |
17 |
13,060,923 (GRCm39) |
missense |
probably benign |
0.00 |
R2032:Mas1
|
UTSW |
17 |
13,061,457 (GRCm39) |
splice site |
probably benign |
|
R3851:Mas1
|
UTSW |
17 |
13,060,880 (GRCm39) |
missense |
probably benign |
0.01 |
R4120:Mas1
|
UTSW |
17 |
13,061,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R7113:Mas1
|
UTSW |
17 |
13,061,324 (GRCm39) |
missense |
probably benign |
0.00 |
R7297:Mas1
|
UTSW |
17 |
13,060,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R7332:Mas1
|
UTSW |
17 |
13,061,106 (GRCm39) |
missense |
probably benign |
0.17 |
R7787:Mas1
|
UTSW |
17 |
13,061,374 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9072:Mas1
|
UTSW |
17 |
13,060,839 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9622:Mas1
|
UTSW |
17 |
13,060,898 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |