Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00583:Mas1'

13604

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 #

IGL00583

Quality Score

Status

Chromosome

Chromosomal Location

13059966-13087030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13060852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 190 (I190M)

Ref Sequence

ENSEMBL: ENSMUSP00000131341 (fasta)

Gene Model

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

AlphaFold

P30554

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089015
AA Change: I190M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086409
Gene: ENSMUSG00000068037
AA Change: I190M

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: I190M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123902
Gene: ENSMUSG00000068037
AA Change: I190M

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: I190M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125108
Gene: ENSMUSG00000068037
AA Change: I190M

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: ENSMUST00000167152
AA Change: I190M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131341
Gene: ENSMUSG00000068037
AA Change: I190M

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: ENSMUST00000165020
AA Change: I190M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132300
Gene: ENSMUSG00000068037
AA Change: I190M

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	C	T	13: 104,433,726 (GRCm39)	Q52*	probably null	Het
Ambp	G	T	4: 63,072,255 (GRCm39)	A13D	possibly damaging	Het
Angptl3	A	G	4: 98,923,077 (GRCm39)	T283A	probably damaging	Het
Atp13a5	A	T	16: 29,094,205 (GRCm39)		probably benign	Het
Borcs8	A	G	8: 70,597,757 (GRCm39)	H93R	probably benign	Het
Bzw1	T	C	1: 58,440,494 (GRCm39)		probably benign	Het
Cd200	A	C	16: 45,217,472 (GRCm39)	I73R	probably damaging	Het
Coq8a	T	C	1: 179,995,954 (GRCm39)	D528G	probably benign	Het
Edem1	T	A	6: 108,832,520 (GRCm39)		probably benign	Het
Enpp5	C	T	17: 44,396,088 (GRCm39)		probably benign	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Erich6	T	C	3: 58,544,464 (GRCm39)	E41G	unknown	Het
Gls2	A	G	10: 128,040,751 (GRCm39)	M340V	probably benign	Het
Gna12	A	T	5: 140,746,773 (GRCm39)	V224E	probably damaging	Het
Golph3l	T	C	3: 95,496,414 (GRCm39)	L46P	possibly damaging	Het
Limch1	T	C	5: 67,111,022 (GRCm39)	I83T	probably damaging	Het
Mefv	T	A	16: 3,533,936 (GRCm39)	K112*	probably null	Het
Oas1e	T	A	5: 120,932,337 (GRCm39)	E102V	probably damaging	Het
Pde6a	T	C	18: 61,390,339 (GRCm39)	C521R	probably damaging	Het
Pigw	A	G	11: 84,768,714 (GRCm39)	V205A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Shprh	C	T	10: 11,063,764 (GRCm39)	T1279I	probably benign	Het
Slc11a2	T	C	15: 100,295,618 (GRCm39)	E501G	probably benign	Het
Sult2a3	T	A	7: 13,856,905 (GRCm39)	Y5F	probably benign	Het
Tll1	A	G	8: 64,658,326 (GRCm39)	L31P	probably benign	Het
Tubgcp3	G	A	8: 12,671,906 (GRCm39)	Q779*	probably null	Het
U2surp	T	A	9: 95,343,577 (GRCm39)		probably benign	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
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
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

2012-12-06