Incidental Mutation 'R7297:Mas1'
ID566773
Institutional Source Beutler Lab
Gene Symbol Mas1
Ensembl Gene ENSMUSG00000068037
Gene NameMAS1 oncogene
SynonymsMas-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7297 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location12841079-12868143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12841858 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 226 (Y226C)
Ref Sequence ENSEMBL: ENSMUSP00000086409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089015] [ENSMUST00000159223] [ENSMUST00000159865] [ENSMUST00000161747] [ENSMUST00000162119] [ENSMUST00000162333] [ENSMUST00000162389] [ENSMUST00000165020] [ENSMUST00000167152]
Predicted Effect probably damaging
Transcript: ENSMUST00000089015
AA Change: Y226C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086409
Gene: ENSMUSG00000068037
AA Change: Y226C

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 probably damaging
Transcript: ENSMUST00000161747
AA Change: Y226C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123902
Gene: ENSMUSG00000068037
AA Change: Y226C

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 probably damaging
Transcript: ENSMUST00000162333
AA Change: Y226C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125108
Gene: ENSMUSG00000068037
AA Change: Y226C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 39 226 2.6e-7 PFAM
Pfam:7tm_1 48 279 5.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162389
SMART Domains Protein: ENSMUSP00000124879
Gene: ENSMUSG00000068037

DomainStartEndE-ValueType
SCOP:d1l9ha_ 31 76 1e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165020
AA Change: Y226C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132300
Gene: ENSMUSG00000068037
AA Change: Y226C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 39 227 3.6e-7 PFAM
Pfam:7tm_1 48 279 3.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167152
AA Change: Y226C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131341
Gene: ENSMUSG00000068037
AA Change: Y226C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 39 227 3.6e-7 PFAM
Pfam:7tm_1 48 279 3.1e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,442,076 D1400G probably benign Het
Abca6 C T 11: 110,183,026 probably null Het
Adh4 A G 3: 138,429,140 I358M possibly damaging Het
Akap6 T G 12: 52,887,364 D546E probably benign Het
Arap3 G A 18: 37,973,563 A1409V possibly damaging Het
Arhgap22 C T 14: 33,271,933 R68* probably null Het
Arhgef4 A T 1: 34,807,192 D207V probably damaging Het
Asb15 A G 6: 24,566,463 T472A probably damaging Het
Ascl1 A T 10: 87,492,464 S209T probably damaging Het
Asxl1 T C 2: 153,397,435 V382A probably benign Het
Atp11a T C 8: 12,806,774 probably null Het
Calu C T 6: 29,356,555 R27* probably null Het
Cdh20 A G 1: 104,970,873 T442A probably benign Het
Chrm3 T A 13: 9,877,833 Q389L probably benign Het
Cntnap1 A G 11: 101,188,634 T1233A probably benign Het
Cwc15 G A 9: 14,510,229 C197Y probably damaging Het
D6Ertd527e C G 6: 87,111,524 T223S unknown Het
Dennd3 C T 15: 73,557,610 T914I probably damaging Het
Dlx3 C A 11: 95,120,450 Y43* probably null Het
Dnah17 A T 11: 118,055,730 probably null Het
Dnah17 A G 11: 118,103,356 F1081S probably damaging Het
Dpp10 G A 1: 123,353,428 Q631* probably null Het
Dsel T A 1: 111,861,776 D343V probably damaging Het
Efcab12 T C 6: 115,811,036 D655G possibly damaging Het
Epha8 T A 4: 136,945,913 I187L probably damaging Het
Exosc10 A G 4: 148,580,377 K781E probably damaging Het
Exosc5 T C 7: 25,666,326 L200P probably benign Het
Faiml T C 9: 99,229,613 E131G probably damaging Het
Gm13723 A T 2: 86,873,636 V29E probably damaging Het
Gm5145 G A 17: 20,570,731 V124I probably benign Het
Grm7 T C 6: 110,646,013 V49A probably benign Het
Gtf2e1 T C 16: 37,536,065 D35G probably damaging Het
Heatr1 C T 13: 12,421,060 Q1160* probably null Het
Herc2 T A 7: 56,136,658 C1584S probably benign Het
Hsd17b3 T C 13: 64,076,351 I88V probably damaging Het
Hspa14 A C 2: 3,498,142 L205R possibly damaging Het
Ifna11 A C 4: 88,820,425 E156A possibly damaging Het
Krt83 T C 15: 101,489,647 D170G probably benign Het
Micall1 T C 15: 79,120,897 F190L unknown Het
Msi2 A T 11: 88,480,038 L141Q probably damaging Het
Nfkbib T C 7: 28,766,343 D27G probably benign Het
Nlrp9b A G 7: 20,049,513 D927G possibly damaging Het
Nrg3 T C 14: 38,370,939 D579G probably benign Het
Nutm1 G A 2: 112,250,056 R505C probably damaging Het
Olfr26 G A 9: 38,855,949 D296N probably damaging Het
Parp4 C T 14: 56,647,681 P1406S not run Het
Pkib A T 10: 57,736,326 Q101L possibly damaging Het
Plat C T 8: 22,775,697 T252I probably benign Het
Ppm1d A T 11: 85,345,995 E533D probably damaging Het
Psd3 T C 8: 68,121,034 K165R probably damaging Het
Psg29 T A 7: 17,210,691 Y375* probably null Het
Pus7 A T 5: 23,741,910 I644N probably damaging Het
Rbbp9 A T 2: 144,543,802 M181K probably benign Het
Rell1 A T 5: 63,936,075 N112K possibly damaging Het
Simc1 AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG 13: 54,525,235 probably benign Het
Skint5 G A 4: 113,542,934 T1184M unknown Het
Slc27a2 T A 2: 126,578,946 D452E probably damaging Het
Slc44a4 T A 17: 34,927,912 I489N probably damaging Het
Slfn14 T A 11: 83,278,995 K608* probably null Het
Snx15 T A 19: 6,120,507 I301F probably damaging Het
Sost C T 11: 101,964,103 G127R probably damaging Het
Stt3b A G 9: 115,276,957 I150T probably damaging Het
Susd2 T C 10: 75,642,568 D58G probably benign Het
Tex46 T G 4: 136,612,901 V99G probably damaging Het
Tgfbi T A 13: 56,632,113 F492I possibly damaging Het
Tmem132c G A 5: 127,360,217 A257T probably benign Het
Trim2 A T 3: 84,210,233 I51K probably damaging Het
Tsn A T 1: 118,300,861 Y210* probably null Het
Umodl1 G A 17: 31,008,665 R1324H probably benign Het
Utp3 G C 5: 88,554,517 probably benign Het
Vmn1r5 A T 6: 56,986,219 N293I possibly damaging Het
Vmn2r124 A T 17: 18,073,573 I641F probably damaging Het
Vmn2r84 T C 10: 130,391,250 N240D probably benign Het
Wbp1l A G 19: 46,654,400 D264G possibly damaging Het
Other mutations in Mas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Mas1 APN 17 12841990 missense probably benign 0.00
IGL00583:Mas1 APN 17 12841965 missense possibly damaging 0.69
IGL01805:Mas1 APN 17 12842230 missense probably damaging 1.00
IGL03263:Mas1 APN 17 12841564 missense possibly damaging 0.83
R0732:Mas1 UTSW 17 12841747 missense probably benign 0.17
R1768:Mas1 UTSW 17 12841699 missense probably damaging 1.00
R1872:Mas1 UTSW 17 12842191 missense probably damaging 1.00
R1967:Mas1 UTSW 17 12842036 missense probably benign 0.00
R2032:Mas1 UTSW 17 12842570 splice site probably benign
R3851:Mas1 UTSW 17 12841993 missense probably benign 0.01
R4120:Mas1 UTSW 17 12842346 missense probably damaging 1.00
R7113:Mas1 UTSW 17 12842437 missense probably benign 0.00
R7332:Mas1 UTSW 17 12842219 missense probably benign 0.17
R7787:Mas1 UTSW 17 12842487 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GAAGCGCTTCTTCTTACTGCTG -3'
(R):5'- CACTTTCGTGCTTGGTGACC -3'

Sequencing Primer
(F):5'- GCTTCTTCTTACTGCTGCCCAC -3'
(R):5'- TGACCACCATGGAGTATGTCATG -3'
Posted On2019-06-26