Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Mas1'

700835

Institutional Source

Beutler Lab

Gene Symbol

Mas1

Ensembl Gene

ENSMUSG00000068037

Gene Name

MAS1 oncogene

Synonyms

Mas receptor, Mas-1, MasR

MMRRC Submission

068894-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13059966-13087030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13060839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 195 (F195L)

Ref Sequence

ENSEMBL: ENSMUSP00000086409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089015] [ENSMUST00000159223] [ENSMUST00000159865] [ENSMUST00000161747] [ENSMUST00000162119] [ENSMUST00000162333] [ENSMUST00000162389] [ENSMUST00000165020] [ENSMUST00000167152]

AlphaFold

P30554

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089015
AA Change: F195L

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000086409
Gene: ENSMUSG00000068037
AA Change: F195L

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

possibly damaging
Transcript: ENSMUST00000161747
AA Change: F195L

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123902
Gene: ENSMUSG00000068037
AA Change: F195L

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: ENSMUST00000162333
AA Change: F195L

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125108
Gene: ENSMUSG00000068037
AA Change: F195L

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

probably benign
Transcript: ENSMUST00000162389

SMART Domains

Protein: ENSMUSP00000124879
Gene: ENSMUSG00000068037

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	31	76	1e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165020
AA Change: F195L

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132300
Gene: ENSMUSG00000068037
AA Change: F195L

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: ENSMUST00000167152
AA Change: F195L

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131341
Gene: ENSMUSG00000068037
AA Change: F195L

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

Meta Mutation Damage Score

0.3259

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (63/63)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,240,834 (GRCm39)	E899A	possibly damaging	Het
Best2	T	A	8: 85,737,418 (GRCm39)	I230F	probably damaging	Het
C2cd2	T	C	16: 97,676,403 (GRCm39)	E448G	probably damaging	Het
C2cd3	T	G	7: 100,040,291 (GRCm39)	S287A	probably benign	Het
Camta2	G	A	11: 70,567,234 (GRCm39)	P677S	probably benign	Het
Cand2	C	T	6: 115,769,490 (GRCm39)	R767C	probably damaging	Het
Celsr3	G	A	9: 108,704,293 (GRCm39)	E259K	probably benign	Het
Cep250	C	G	2: 155,834,035 (GRCm39)	Q1987E	probably benign	Het
Chn1	T	C	2: 73,443,430 (GRCm39)	D440G	probably benign	Het
Cmbl	A	T	15: 31,585,449 (GRCm39)	D111V	possibly damaging	Het
Col5a3	T	A	9: 20,682,453 (GRCm39)	I1664F	unknown	Het
Cp	T	C	3: 20,033,158 (GRCm39)	S662P	possibly damaging	Het
Cpne5	G	A	17: 29,430,677 (GRCm39)	R78C	probably damaging	Het
Cst5	A	G	2: 149,249,261 (GRCm39)	T104A	probably benign	Het
Cyp11b2	A	G	15: 74,725,662 (GRCm39)	F195S	possibly damaging	Het
Dcaf17	T	C	2: 70,920,136 (GRCm39)	Y475H	probably benign	Het
Edem2	G	C	2: 155,571,212 (GRCm39)	L16V	unknown	Het
Eeig1	A	G	2: 32,455,674 (GRCm39)	S267G	probably benign	Het
Ext2	A	G	2: 93,644,144 (GRCm39)	W46R	probably benign	Het
Gal3st3	T	A	19: 5,352,605 (GRCm39)	S11T	probably benign	Het
Garin5b	A	T	7: 4,762,253 (GRCm39)	H265Q		Het
Gfi1	T	A	5: 107,865,725 (GRCm39)	I451F	possibly damaging	Het
Gfpt2	T	C	11: 49,714,185 (GRCm39)	L314P	probably damaging	Het
Gm3250	A	T	10: 77,618,127 (GRCm39)	C84S	unknown	Het
Hmcn1	A	T	1: 150,565,320 (GRCm39)	V2269E	probably benign	Het
Ighv1-55	T	C	12: 115,172,013 (GRCm39)	H18R	probably benign	Het
Iqgap3	G	A	3: 87,998,883 (GRCm39)	G328E	probably benign	Het
Klf6	G	T	13: 5,917,233 (GRCm39)	C303F	probably benign	Het
Klhl35	A	T	7: 99,122,129 (GRCm39)	S77C	probably damaging	Het
Ktn1	T	G	14: 47,941,694 (GRCm39)	V822G	probably benign	Het
Lbhd2	G	T	12: 111,375,040 (GRCm39)	G21W	probably damaging	Het
Lrp1b	G	A	2: 40,615,457 (GRCm39)	R3649*	probably null	Het
Map2	C	A	1: 66,453,312 (GRCm39)	T734N	probably damaging	Het
Med1	A	T	11: 98,080,009 (GRCm39)	M44K	possibly damaging	Het
Morc3	T	C	16: 93,667,482 (GRCm39)	V620A	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Nucb2	T	A	7: 116,125,631 (GRCm39)	I159N	probably damaging	Het
Olfm5	A	G	7: 103,802,984 (GRCm39)	L493P	probably benign	Het
Or1e1	T	G	11: 73,244,797 (GRCm39)	F73V	probably damaging	Het
Or2ag15	A	T	7: 106,340,759 (GRCm39)	C127*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pcdhb22	T	A	18: 37,651,813 (GRCm39)	C94S	probably damaging	Het
Pcdhga5	A	G	18: 37,829,537 (GRCm39)	I662V	probably benign	Het
Plcb2	G	A	2: 118,547,878 (GRCm39)	T472M	possibly damaging	Het
Plcb4	A	G	2: 135,849,795 (GRCm39)	E1142G	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Polr2l	T	C	7: 141,053,285 (GRCm39)	Y43C	probably damaging	Het
Prkcb	T	A	7: 122,127,771 (GRCm39)	N298K	probably benign	Het
Ptar1	T	A	19: 23,695,414 (GRCm39)	C294S	probably benign	Het
Ptprq	T	C	10: 107,401,736 (GRCm39)	I1919V		Het
Slc25a18	C	T	6: 120,769,022 (GRCm39)	R180C	probably benign	Het
Slc27a3	A	C	3: 90,295,768 (GRCm39)	S285R	probably damaging	Het
Smg1	C	T	7: 117,783,032 (GRCm39)	V1092I	unknown	Het
Spata19	T	G	9: 27,309,024 (GRCm39)	I54R	possibly damaging	Het
St6galnac5	T	C	3: 152,551,956 (GRCm39)	T204A	probably benign	Het
Tdpoz8	T	A	3: 92,981,341 (GRCm39)	C46S	probably benign	Het
Trpc3	T	C	3: 36,694,831 (GRCm39)	I708V	probably benign	Het
Ttn	T	C	2: 76,775,183 (GRCm39)	E1999G	unknown	Het
Ube3b	C	T	5: 114,542,607 (GRCm39)	T488M	probably damaging	Het
Vmn1r235	A	T	17: 21,482,271 (GRCm39)	I199F	probably benign	Het
Vsig8	A	T	1: 172,388,340 (GRCm39)	N215Y	possibly damaging	Het
Wapl	A	G	14: 34,399,417 (GRCm39)	K162R	possibly damaging	Het
Wdpcp	A	G	11: 21,614,014 (GRCm39)	T60A	probably benign	Het
Wdr26	A	T	1: 181,010,351 (GRCm39)	I566N	probably damaging	Het
Wdr46	C	T	17: 34,163,555 (GRCm39)	T371M	probably benign	Het
Zdbf2	T	C	1: 63,344,923 (GRCm39)	S1101P	possibly 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
IGL03263:Mas1	APN	17	13,060,451 (GRCm39)	missense	possibly damaging	0.83
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
R9622:Mas1	UTSW	17	13,060,898 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCAAAGGCTGACCAGTACTC -3'
(R):5'- AGTGTGGAGAGGTGCCTATC -3'

Sequencing Primer
(F):5'- CTCGTAGTACAGCAAGTAGAGGACC -3'
(R):5'- GGTCCTCTACCCCATATGGTACAG -3'

Posted On

2022-02-07