Mutagenetix > Incidental Mutation

Incidental Mutation 'R3851:Mas1'

275940

Institutional Source

Beutler Lab

Gene Symbol

Mas1

Ensembl Gene

ENSMUSG00000068037

Gene Name

MAS1 oncogene

Synonyms

Mas receptor, Mas-1, MasR

MMRRC Submission

040899-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13059966-13087030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 13060880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 181 (S181T)

Ref Sequence

ENSEMBL: ENSMUSP00000131341 (fasta)

Gene Model

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

AlphaFold

P30554

Predicted Effect

probably benign
Transcript: ENSMUST00000089015
AA Change: S181T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000086409
Gene: ENSMUSG00000068037
AA Change: S181T

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

probably benign
Transcript: ENSMUST00000161747
AA Change: S181T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000123902
Gene: ENSMUSG00000068037
AA Change: S181T

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

probably benign
Transcript: ENSMUST00000162333
AA Change: S181T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125108
Gene: ENSMUSG00000068037
AA Change: S181T

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: ENSMUST00000165020
AA Change: S181T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000132300
Gene: ENSMUSG00000068037
AA Change: S181T

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: ENSMUST00000167152
AA Change: S181T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000131341
Gene: ENSMUSG00000068037
AA Change: S181T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (36/36)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	G	A	7: 101,039,372 (GRCm39)	W544*	probably null	Het
AY358078	A	G	14: 52,043,010 (GRCm39)	T233A	unknown	Het
Bcl9	G	A	3: 97,116,969 (GRCm39)	P575L	probably damaging	Het
Calcr	T	C	6: 3,693,735 (GRCm39)	Y353C	probably damaging	Het
Cry1	C	A	10: 84,982,363 (GRCm39)	A328S	probably benign	Het
Dclre1a	A	T	19: 56,529,939 (GRCm39)	N799K	probably damaging	Het
Dnm3	A	T	1: 162,148,696 (GRCm39)		probably null	Het
Dock9	A	T	14: 121,866,498 (GRCm39)		probably null	Het
Dpysl4	C	T	7: 138,680,851 (GRCm39)	T575M	probably damaging	Het
Drc7	C	T	8: 95,788,464 (GRCm39)	Q276*	probably null	Het
Dzip3	T	C	16: 48,770,376 (GRCm39)	T389A	possibly damaging	Het
Flnc	T	A	6: 29,453,718 (GRCm39)	L1801Q	probably damaging	Het
Fmo9	A	G	1: 166,490,936 (GRCm39)	L463P	probably benign	Het
Fnip2	G	C	3: 79,369,464 (GRCm39)	H1074D	probably damaging	Het
Golga2	A	G	2: 32,195,623 (GRCm39)	E806G	probably benign	Het
H2-Q5	T	A	17: 35,613,115 (GRCm39)	M5K	unknown	Het
Il27ra	C	T	8: 84,767,317 (GRCm39)	E169K	probably benign	Het
Insyn2a	A	G	7: 134,486,255 (GRCm39)	V432A	probably benign	Het
Itpkc	A	T	7: 26,927,037 (GRCm39)	N292K	probably benign	Het
Lhfpl3	G	A	5: 22,980,985 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,951,752 (GRCm39)		probably benign	Het
Ntn1	C	G	11: 68,276,619 (GRCm39)	D110H	probably damaging	Het
Nubpl	T	C	12: 52,190,810 (GRCm39)	M65T	probably damaging	Het
Or6c76b	A	C	10: 129,693,016 (GRCm39)	M210L	probably benign	Het
Parp14	A	G	16: 35,674,118 (GRCm39)	I1042T	possibly damaging	Het
Pcdh15	C	A	10: 74,467,518 (GRCm39)	S1779Y	probably damaging	Het
Pgm5	C	T	19: 24,797,567 (GRCm39)	R205Q	probably damaging	Het
Radil	T	C	5: 142,492,752 (GRCm39)	D292G	probably damaging	Het
Rbp3	C	A	14: 33,677,464 (GRCm39)	H471N	probably damaging	Het
Rgs14	T	A	13: 55,527,427 (GRCm39)	L221Q	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,105,884 (GRCm39)	T22M	probably benign	Het
Sult2b1	G	T	7: 45,379,461 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Ttn	G	T	2: 76,581,678 (GRCm39)	L23072I	possibly damaging	Het
Zfp521	T	C	18: 13,850,808 (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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCAAAGGCTGACCAGTAC -3'
(R):5'- TCAGTGTGGAGAGGTGCCTATC -3'

Sequencing Primer
(F):5'- AGGCTGACCAGTACTCGTAG -3'
(R):5'- GAGGTGCCTATCGGTCCTCTAC -3'

Posted On

2015-04-06