Mutagenetix > Incidental Mutation

Incidental Mutation 'R1345:Vmn1r169'

156458

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r169

Ensembl Gene

ENSMUSG00000094602

Gene Name

vomeronasal 1 receptor 169

Synonyms

Gm4232

MMRRC Submission

039410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23276610-23277524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23277247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 213 (H213P)

Ref Sequence

ENSEMBL: ENSMUSP00000154343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170290] [ENSMUST00000226669] [ENSMUST00000227547] [ENSMUST00000227932] [ENSMUST00000228832]

AlphaFold

L7N275

Predicted Effect

probably damaging
Transcript: ENSMUST00000170290
AA Change: H213P

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

SMART Domains

Protein: ENSMUSP00000126133
Gene: ENSMUSG00000094602
AA Change: H213P

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	295	4e-14	PFAM
Pfam:V1R	41	295	2.1e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226669
AA Change: H213P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227547
AA Change: H213P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227932
AA Change: H213P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228832
AA Change: H213P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 92.3%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,635,152 (GRCm39)	V129I	probably damaging	Het
Akr1c18	T	C	13: 4,195,213 (GRCm39)	T82A	possibly damaging	Het
Alx1	A	G	10: 102,864,353 (GRCm39)	S39P	possibly damaging	Het
Atr	A	G	9: 95,802,408 (GRCm39)	T1767A	probably benign	Het
Brf1	A	T	12: 112,924,728 (GRCm39)		probably null	Het
Cd86	A	G	16: 36,438,686 (GRCm39)		probably null	Het
Cdan1	A	G	2: 120,549,620 (GRCm39)		probably null	Het
Cntln	A	G	4: 84,892,228 (GRCm39)	D371G	probably damaging	Het
Cypt4	A	G	9: 24,536,515 (GRCm39)	T2A	possibly damaging	Het
Dll1	G	T	17: 15,593,817 (GRCm39)	Y183*	probably null	Het
Dnmt1	G	T	9: 20,819,814 (GRCm39)	P1444Q	probably damaging	Het
Ern2	A	G	7: 121,776,993 (GRCm39)	L309P	probably damaging	Het
Fam151a	A	G	4: 106,599,491 (GRCm39)	K142E	probably damaging	Het
Fbn1	T	C	2: 125,156,591 (GRCm39)	E2378G	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kdm5b	A	C	1: 134,558,288 (GRCm39)	T1432P	possibly damaging	Het
Kif2a	G	A	13: 107,130,423 (GRCm39)	S15F	probably damaging	Het
Lzic	A	G	4: 149,571,308 (GRCm39)	E31G	probably damaging	Het
Mmp16	A	G	4: 18,112,021 (GRCm39)	M466V	probably benign	Het
Mtm1	T	C	X: 70,330,837 (GRCm39)	V203A	probably benign	Het
Muc21	T	A	17: 35,932,489 (GRCm39)		probably benign	Het
Neurl4	A	G	11: 69,794,702 (GRCm39)	M249V	probably benign	Het
Or6c76b	T	C	10: 129,692,759 (GRCm39)	I124T	probably damaging	Het
Plxna2	T	C	1: 194,326,794 (GRCm39)	Y243H	probably damaging	Het
Rbm44	A	G	1: 91,080,481 (GRCm39)	N223S	probably damaging	Het
Sel1l3	G	T	5: 53,357,559 (GRCm39)	H144Q	possibly damaging	Het
Simc1	A	ANNNNNNNNNNNNNNNNNNNNN	13: 54,673,060 (GRCm39)		probably benign	Het
Snrpb2	A	G	2: 142,907,086 (GRCm39)		probably benign	Het
Spata31d1d	T	G	13: 59,873,838 (GRCm39)	K1232N	possibly damaging	Het
Spink5	A	T	18: 44,123,749 (GRCm39)	E345D	possibly damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tarbp1	T	C	8: 127,175,069 (GRCm39)	D789G	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmem232	T	C	17: 65,757,401 (GRCm39)	N264S	possibly damaging	Het
Trim43b	G	C	9: 88,967,725 (GRCm39)	L303V	possibly damaging	Het
Tulp2	C	A	7: 45,168,145 (GRCm39)	R298S	probably benign	Het
Usp42	A	G	5: 143,703,088 (GRCm39)	V511A	probably damaging	Het
Vav1	A	T	17: 57,608,214 (GRCm39)	T321S	probably benign	Het
Vmn1r170	C	T	7: 23,305,787 (GRCm39)	T63I	probably benign	Het
Vmn2r103	T	G	17: 20,014,509 (GRCm39)	W434G	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp7	T	C	15: 76,774,908 (GRCm39)	S317P	probably damaging	Het

Other mutations in Vmn1r169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Vmn1r169	APN	7	23,277,019 (GRCm39)	missense	probably damaging	1.00
IGL01019:Vmn1r169	APN	7	23,276,611 (GRCm39)	start codon destroyed	probably null	0.99
IGL01667:Vmn1r169	APN	7	23,277,225 (GRCm39)	missense	probably benign	0.17
IGL02246:Vmn1r169	APN	7	23,276,661 (GRCm39)	missense	probably benign	0.09
IGL03303:Vmn1r169	APN	7	23,277,434 (GRCm39)	missense	probably benign	0.40
R6471:Vmn1r169	UTSW	7	23,276,970 (GRCm39)	missense	probably benign	0.25
R7120:Vmn1r169	UTSW	7	23,277,444 (GRCm39)	missense	probably benign	0.00
R7268:Vmn1r169	UTSW	7	23,276,853 (GRCm39)	missense	probably benign	0.00
R7541:Vmn1r169	UTSW	7	23,277,412 (GRCm39)	missense	probably benign	0.04
R8782:Vmn1r169	UTSW	7	23,277,403 (GRCm39)	missense	possibly damaging	0.92
R8946:Vmn1r169	UTSW	7	23,276,640 (GRCm39)	missense	possibly damaging	0.81
R9277:Vmn1r169	UTSW	7	23,277,390 (GRCm39)	missense	probably benign	0.19
R9408:Vmn1r169	UTSW	7	23,277,342 (GRCm39)	missense	probably damaging	1.00
R9458:Vmn1r169	UTSW	7	23,276,628 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TGAAAGTCAGTGGTCCCCAGAAAAC -3'
(R):5'- TCATTTGGACTGTCATTCTCAGCAGC -3'

Sequencing Primer
(F):5'- GTGGTCCCCAGAAAACACATAATG -3'
(R):5'- AGCCAAAATTTCTTTGACCCG -3'

Posted On

2014-02-11