Mutagenetix > Incidental Mutation

Incidental Mutation 'R7835:Vmn1r57'

605912

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r57

Ensembl Gene

ENSMUSG00000091652

Gene Name

vomeronasal 1 receptor 57

Synonyms

Gm7519

MMRRC Submission

045889-MU

Accession Numbers

Essential gene?

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

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5223477-5224409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5224138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 221 (H221L)

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: H221L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131917
Gene: ENSMUSG00000091652
AA Change: H221L

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: H221L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000228062
AA Change: H221L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,749,623 (GRCm39)	S1465T	probably benign	Het
Accsl	T	A	2: 93,696,329 (GRCm39)	K90*	probably null	Het
Adamts3	A	T	5: 89,848,299 (GRCm39)	D674E	possibly damaging	Het
Adap2	T	A	11: 80,051,057 (GRCm39)	V129D	probably benign	Het
Ank3	A	G	10: 69,823,557 (GRCm39)	D742G		Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cachd1	G	T	4: 100,831,350 (GRCm39)		probably null	Het
Ccne1	G	T	7: 37,802,270 (GRCm39)	Q133K	probably benign	Het
Cers3	C	T	7: 66,423,387 (GRCm39)	H111Y	possibly damaging	Het
Chst5	A	T	8: 112,617,234 (GRCm39)	L129M	probably damaging	Het
Depdc7	A	G	2: 104,558,530 (GRCm39)	S164P	probably benign	Het
Dnah10	G	A	5: 124,854,298 (GRCm39)	A1966T	probably damaging	Het
Fcgbp	T	G	7: 27,816,632 (GRCm39)	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,985,525 (GRCm39)	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558 (GRCm39)	V201A	possibly damaging	Het
Kif13b	T	A	14: 65,004,901 (GRCm39)	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,545,308 (GRCm39)		probably null	Het
Lrp4	T	C	2: 91,325,387 (GRCm39)	V1404A	possibly damaging	Het
Lrrc61	A	T	6: 48,545,506 (GRCm39)	T110S	probably benign	Het
Mrpl19	G	A	6: 81,939,107 (GRCm39)	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Mzt1	T	C	14: 99,283,439 (GRCm39)	T21A	probably benign	Het
Naip6	G	T	13: 100,452,512 (GRCm39)	A183E	probably benign	Het
Neb	T	C	2: 52,040,589 (GRCm39)	D6624G	probably benign	Het
Nup85	A	G	11: 115,460,897 (GRCm39)	D183G	probably benign	Het
Olfm5	A	T	7: 103,803,652 (GRCm39)	Y195*	probably null	Het
Or7g16	T	A	9: 18,727,105 (GRCm39)	M162L	probably benign	Het
Piezo2	A	T	18: 63,216,016 (GRCm39)	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polr1a	T	C	6: 71,892,126 (GRCm39)	V135A	probably benign	Het
Ppcdc	A	G	9: 57,327,559 (GRCm39)	S83P	probably benign	Het
Prss21	A	T	17: 24,088,425 (GRCm39)	Q130L	possibly damaging	Het
Rdx	T	A	9: 51,977,088 (GRCm39)	N112K	probably damaging	Het
Rgs22	A	G	15: 36,082,057 (GRCm39)		probably null	Het
Rps23rg1	A	G	8: 3,630,452 (GRCm39)		probably benign	Het
Rps26	C	T	10: 128,461,995 (GRCm39)	V40I	probably benign	Het
Runx2	A	T	17: 44,919,123 (GRCm39)	M405K	probably damaging	Het
Serinc2	A	C	4: 130,169,280 (GRCm39)	C4G	unknown	Het
Sh3rf2	C	A	18: 42,244,235 (GRCm39)	R266S	probably benign	Het
Slc38a10	A	G	11: 120,007,822 (GRCm39)	I386T	possibly damaging	Het
Stab2	G	A	10: 86,708,483 (GRCm39)	P1694L	probably benign	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tasor	G	T	14: 27,198,600 (GRCm39)	G1311C	probably damaging	Het
Tmem102	A	G	11: 69,695,171 (GRCm39)	V267A	probably damaging	Het
Trim65	A	G	11: 116,021,755 (GRCm39)	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,571,379 (GRCm39)	M244K	possibly damaging	Het
Wdr89	C	A	12: 75,679,673 (GRCm39)	V194F	probably damaging	Het
Wee1	C	A	7: 109,730,085 (GRCm39)	Y396*	probably null	Het
Zfp451	A	T	1: 33,812,060 (GRCm39)	V885D	probably damaging	Het
Zfp981	A	T	4: 146,622,333 (GRCm39)	Q419H	probably benign	Het
Znfx1	A	G	2: 166,881,747 (GRCm39)	Y1081H	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
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
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'- TGTCAGTGGTCCACAGAAATCAC -3'
(R):5'- GCAGAGAACAATGACCCCTAGG -3'

Sequencing Primer
(F):5'- GTGGTCCACAGAAATCACACAATG -3'
(R):5'- GGTTCCCTAAATATCAACAGTAAGGG -3'

Posted On

2019-12-20