Mutagenetix > Incidental Mutation

Incidental Mutation 'R5559:Vmn1r57'

436452

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r57

Ensembl Gene

ENSMUSG00000091652

Gene Name

vomeronasal 1 receptor 57

Synonyms

Gm7519

MMRRC Submission

043116-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5559 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5223477-5224409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5223898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 141 (N141S)

Ref Sequence

ENSEMBL: ENSMUSP00000153848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170780] [ENSMUST00000227798] [ENSMUST00000228062]

AlphaFold

K7N731

Predicted Effect

probably damaging
Transcript: ENSMUST00000170780
AA Change: N141S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131917
Gene: ENSMUSG00000091652
AA Change: N141S

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	290	1.7e-12	PFAM
Pfam:7tm_1	20	279	1.8e-6	PFAM
Pfam:V1R	32	289	1.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227798
AA Change: N141S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227864

Predicted Effect

probably damaging
Transcript: ENSMUST00000228062
AA Change: N141S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	T	16: 88,555,981 (GRCm39)	R65L	unknown	Het
Abcc5	A	T	16: 20,157,636 (GRCm39)	M1307K	probably damaging	Het
Anapc1	A	T	2: 128,522,354 (GRCm39)	C129*	probably null	Het
Brd10	A	C	19: 29,694,363 (GRCm39)	F1710C	possibly damaging	Het
Brox	A	T	1: 183,073,552 (GRCm39)	S39R	possibly damaging	Het
Ccdc168	C	G	1: 44,097,675 (GRCm39)	R1141T	possibly damaging	Het
Cd109	T	C	9: 78,568,250 (GRCm39)	V310A	probably benign	Het
Chd9	G	A	8: 91,742,553 (GRCm39)		probably null	Het
Chmp2b	A	T	16: 65,337,316 (GRCm39)	I170N	probably damaging	Het
Cnp	G	T	11: 100,467,243 (GRCm39)	G62V	probably damaging	Het
Dcp2	C	A	18: 44,538,554 (GRCm39)	P206T	probably damaging	Het
Dhx57	A	T	17: 80,561,808 (GRCm39)	V902E	possibly damaging	Het
Dmwd	G	A	7: 18,814,363 (GRCm39)	V338M	probably damaging	Het
Eva1c	A	G	16: 90,701,139 (GRCm39)	D258G	probably benign	Het
Flvcr2	T	A	12: 85,851,181 (GRCm39)	F448L	probably benign	Het
Garin5b	A	G	7: 4,761,449 (GRCm39)	V421A	probably damaging	Het
Gchfr	C	T	2: 119,000,187 (GRCm39)	H23Y	probably benign	Het
Helz2	T	A	2: 180,871,919 (GRCm39)	M2617L	probably damaging	Het
Ighv5-9-1	A	T	12: 113,699,745 (GRCm39)	Y122*	probably null	Het
Lrrtm3	A	G	10: 63,766,045 (GRCm39)	I514T	probably benign	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Obox5	A	T	7: 15,491,522 (GRCm39)	I21F	probably benign	Het
Or51f1	C	T	7: 102,506,414 (GRCm39)	G25D	possibly damaging	Het
P2rx2	T	C	5: 110,488,427 (GRCm39)	I376V	possibly damaging	Het
Poli	A	G	18: 70,642,356 (GRCm39)	S529P	probably benign	Het
Ruvbl1	T	C	6: 88,450,078 (GRCm39)	I83T	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,483 (GRCm39)	S220P	probably damaging	Het
Serpinb9h	T	A	13: 33,588,301 (GRCm39)	D295E	probably benign	Het
Sf3b3	A	T	8: 111,564,847 (GRCm39)	D320E	probably benign	Het
Slc6a21	C	A	7: 44,937,853 (GRCm39)	L390I	possibly damaging	Het
Smarcd1	T	G	15: 99,601,176 (GRCm39)		probably null	Het
Sp1	T	A	15: 102,317,365 (GRCm39)	S295T	probably benign	Het
Tas2r104	T	A	6: 131,662,094 (GRCm39)	H205L	probably damaging	Het
Tmem69	C	G	4: 116,410,388 (GRCm39)	G194A	probably damaging	Het
Unc5c	G	T	3: 141,509,548 (GRCm39)	C676F	probably damaging	Het
Unkl	A	G	17: 25,424,687 (GRCm39)	N52S	probably benign	Het
Vmn1r233	T	C	17: 21,214,839 (GRCm39)	Y37C	possibly damaging	Het
Vmn2r50	T	C	7: 9,771,253 (GRCm39)	Y816C	probably damaging	Het
Vmn2r51	T	A	7: 9,826,128 (GRCm39)	S540C	probably damaging	Het

Other mutations in Vmn1r57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01770:Vmn1r57	APN	7	5,223,667 (GRCm39)	missense	possibly damaging	0.61
IGL03124:Vmn1r57	APN	7	5,224,021 (GRCm39)	missense	possibly damaging	0.91
R1779:Vmn1r57	UTSW	7	5,223,576 (GRCm39)	missense	possibly damaging	0.89
R3025:Vmn1r57	UTSW	7	5,223,714 (GRCm39)	nonsense	probably null
R3917:Vmn1r57	UTSW	7	5,223,630 (GRCm39)	missense	probably damaging	1.00
R4093:Vmn1r57	UTSW	7	5,223,856 (GRCm39)	missense	possibly damaging	0.80
R4552:Vmn1r57	UTSW	7	5,223,667 (GRCm39)	missense	possibly damaging	0.61
R4628:Vmn1r57	UTSW	7	5,223,972 (GRCm39)	missense	probably damaging	1.00
R5186:Vmn1r57	UTSW	7	5,224,107 (GRCm39)	missense	probably benign	0.08
R5290:Vmn1r57	UTSW	7	5,224,319 (GRCm39)	missense	probably damaging	1.00
R6372:Vmn1r57	UTSW	7	5,223,826 (GRCm39)	missense	possibly damaging	0.61
R7105:Vmn1r57	UTSW	7	5,223,499 (GRCm39)	missense	probably damaging	1.00
R7220:Vmn1r57	UTSW	7	5,223,559 (GRCm39)	missense	probably null	1.00
R7835:Vmn1r57	UTSW	7	5,224,138 (GRCm39)	missense	probably benign	0.44
R7872:Vmn1r57	UTSW	7	5,223,613 (GRCm39)	missense	possibly damaging	0.48
R8310:Vmn1r57	UTSW	7	5,224,024 (GRCm39)	missense	probably damaging	1.00
R9679:Vmn1r57	UTSW	7	5,224,230 (GRCm39)	missense	probably benign	0.09
R9681:Vmn1r57	UTSW	7	5,224,069 (GRCm39)	missense	probably damaging	0.99
X0064:Vmn1r57	UTSW	7	5,223,760 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTCACATGGTGGCTCGAG -3'
(R):5'- TCTCAGCATGGCCTCTGTTG -3'

Sequencing Primer
(F):5'- TGGCTCGAGGCACAATCATG -3'
(R):5'- GACCTTATGTATGTGGTTCATTCTC -3'

Posted On

2016-10-24