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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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