Mutagenetix > Incidental Mutation

Incidental Mutation 'R9679:Vmn1r57'

728407

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r57

Ensembl Gene

ENSMUSG00000091652

Gene Name

vomeronasal 1 receptor 57

Synonyms

Gm7519

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5223477-5224409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5224230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 252 (I252L)

Ref Sequence

ENSEMBL: ENSMUSP00000131917 (fasta)

Gene Model

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

AlphaFold

K7N731

Predicted Effect

probably benign
Transcript: ENSMUST00000170780
AA Change: I252L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131917
Gene: ENSMUSG00000091652
AA Change: I252L

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 benign
Transcript: ENSMUST00000227798
AA Change: I252L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000228062
AA Change: I252L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	A	12: 113,509,542 (GRCm39)	N638K	probably benign	Het
Arid5a	A	G	1: 36,357,648 (GRCm39)	K188E	possibly damaging	Het
Atp11a	T	C	8: 12,909,388 (GRCm39)	I1082T	possibly damaging	Het
Bdp1	T	A	13: 100,180,285 (GRCm39)	I1845F	probably damaging	Het
Ccdc87	A	C	19: 4,891,299 (GRCm39)	E597A	probably benign	Het
Cfap53	A	T	18: 74,492,656 (GRCm39)	Q460L	possibly damaging	Het
Clcn1	G	A	6: 42,263,753 (GRCm39)	S18N	probably damaging	Het
Cntnap3	C	A	13: 64,899,562 (GRCm39)	C977F	probably damaging	Het
Colec11	C	A	12: 28,644,829 (GRCm39)	V222L	probably benign	Het
Dchs2	G	T	3: 83,261,697 (GRCm39)	S2655I	probably damaging	Het
Dnah8	A	G	17: 31,037,115 (GRCm39)	T4227A	probably benign	Het
Dock5	G	A	14: 68,018,450 (GRCm39)	R1242W	probably damaging	Het
Ebf3	T	A	7: 136,832,964 (GRCm39)	N237I	possibly damaging	Het
F2rl3	T	A	8: 73,489,661 (GRCm39)	L296Q	probably damaging	Het
Fbn2	A	G	18: 58,201,433 (GRCm39)	I1328T	probably damaging	Het
Fes	T	C	7: 80,033,050 (GRCm39)	E258G	probably benign	Het
Gins4	G	A	8: 23,717,132 (GRCm39)	A212V	probably damaging	Het
Il15	T	C	8: 83,071,094 (GRCm39)	Y7C	probably benign	Het
Il9r	T	G	11: 32,140,853 (GRCm39)	H395P	probably benign	Het
Jade1	T	C	3: 41,567,569 (GRCm39)	S546P	probably damaging	Het
Krt72	C	T	15: 101,685,152 (GRCm39)	G469D	probably damaging	Het
Limd1	T	A	9: 123,308,457 (GRCm39)	M52K	probably damaging	Het
Mamdc2	T	C	19: 23,351,380 (GRCm39)	N182S	probably benign	Het
Mrpl14	A	G	17: 46,009,240 (GRCm39)	N113S	probably damaging	Het
Ms4a14	A	G	19: 11,280,048 (GRCm39)	S837P	possibly damaging	Het
Mtrex	A	G	13: 113,032,055 (GRCm39)	S586P	probably damaging	Het
Muc21	A	G	17: 35,930,491 (GRCm39)	S1232P	unknown	Het
Myh11	A	T	16: 14,095,436 (GRCm39)	Y109N		Het
Nfrkb	C	T	9: 31,321,385 (GRCm39)	T694M	probably benign	Het
Nlrp4b	T	G	7: 10,449,184 (GRCm39)	S462R	probably benign	Het
Or4k37	A	G	2: 111,159,345 (GRCm39)	T194A	probably benign	Het
Or52e2	T	C	7: 102,804,652 (GRCm39)	I101V	probably benign	Het
Or5g9	T	A	2: 85,552,482 (GRCm39)	H244Q	probably damaging	Het
Or5h19	A	G	16: 58,856,521 (GRCm39)	L193P	possibly damaging	Het
Or6c76	A	G	10: 129,611,882 (GRCm39)	Y33C	probably damaging	Het
Rasip1	T	C	7: 45,277,327 (GRCm39)	V45A	possibly damaging	Het
Rgs22	A	G	15: 36,087,587 (GRCm39)	S568P	probably benign	Het
Sephs1	T	A	2: 4,898,105 (GRCm39)	L172Q	probably damaging	Het
Slc16a3	T	C	11: 120,847,223 (GRCm39)	L137P	probably damaging	Het
Slc22a4	T	C	11: 53,881,599 (GRCm39)	Y373C	probably damaging	Het
Snx1	T	C	9: 65,998,002 (GRCm39)	D410G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stam2	G	T	2: 52,606,582 (GRCm39)	A101D	probably damaging	Het
Surf4	A	G	2: 26,814,364 (GRCm39)	F179S	probably benign	Het
Taf8	C	T	17: 47,801,101 (GRCm39)	R294Q	unknown	Het
Tnr	A	G	1: 159,719,608 (GRCm39)	T962A	probably benign	Het
Tpx2	T	A	2: 152,711,618 (GRCm39)	I51K	possibly damaging	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,394,369 (GRCm39)	Y2305N		Het
Vil1	C	A	1: 74,469,833 (GRCm39)	Q740K	probably benign	Het
Vmn1r236	T	C	17: 21,507,286 (GRCm39)	F135L	possibly damaging	Het
Vmn2r77	T	C	7: 86,460,741 (GRCm39)	L689P	probably benign	Het
Wdr1	A	G	5: 38,685,216 (GRCm39)	L585P	probably damaging	Het
Wdr6	T	C	9: 108,450,358 (GRCm39)	I1057V	probably benign	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
R5559:Vmn1r57	UTSW	7	5,223,898 (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
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'- CTTGGACCAGTGTCTCCATG -3'
(R):5'- TACTCCTTGCTGGTGTCACG -3'

Sequencing Primer
(F):5'- GACCAGTGTCTCCATGGTGATTC -3'
(R):5'- ATGGACATGTTTTGACCTTACTG -3'

Posted On

2022-10-06