Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Vmn1r199'

688581

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r199

Ensembl Gene

ENSMUSG00000069292

Gene Name

vomeronasal 1 receptor 199

Synonyms

V1rh4

MMRRC Submission

068880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22566708-22567811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22567724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 339 (H339Q)

Ref Sequence

ENSEMBL: ENSMUSP00000089326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091732] [ENSMUST00000227685] [ENSMUST00000227689] [ENSMUST00000227846]

AlphaFold

Q8R280

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091732
AA Change: H339Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000089326
Gene: ENSMUSG00000069292
AA Change: H339Q

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC
Pfam:TAS2R	43	338	3.3e-7	PFAM
Pfam:V1R	75	340	1.6e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227685
AA Change: H339Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227689
AA Change: H296Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227846
AA Change: H296Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,395,594 (GRCm39)	D641E	probably benign	Het
Anln	A	G	9: 22,272,116 (GRCm39)		probably null	Het
Areg	A	T	5: 91,292,217 (GRCm39)	E172D	probably damaging	Het
Ccdc51	A	T	9: 108,918,482 (GRCm39)	T24S	probably benign	Het
Cckar	A	T	5: 53,860,424 (GRCm39)	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,313,821 (GRCm39)		probably benign	Het
Cep295	T	C	9: 15,235,551 (GRCm39)	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,664,562 (GRCm39)	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,919,249 (GRCm39)	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,853,253 (GRCm39)	I406F	probably benign	Het
Eml4	T	A	17: 83,734,640 (GRCm39)		probably benign	Het
Fkrp	G	T	7: 16,544,569 (GRCm39)	T431K	probably damaging	Het
Fsip2	A	T	2: 82,806,180 (GRCm39)	Y833F	possibly damaging	Het
Galnt2	T	C	8: 125,058,837 (GRCm39)		probably null	Het
Gm8180	T	A	14: 44,019,806 (GRCm39)		probably null	Het
Hcn1	T	C	13: 118,108,171 (GRCm39)	S552P	unknown	Het
Ifit1	A	C	19: 34,625,887 (GRCm39)	E341A	possibly damaging	Het
Iyd	A	G	10: 3,490,250 (GRCm39)		probably benign	Het
Krt72	A	T	15: 101,694,836 (GRCm39)	S20T	probably damaging	Het
Lemd2	G	T	17: 27,423,069 (GRCm39)	D108E	probably benign	Het
Lipn	A	T	19: 34,054,376 (GRCm39)	I205F	possibly damaging	Het
Nat1	G	T	8: 67,943,723 (GRCm39)	R36L	probably benign	Het
Nebl	A	T	2: 17,415,907 (GRCm39)	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,214,351 (GRCm39)	N502I	probably damaging	Het
Nrp1	G	A	8: 129,214,389 (GRCm39)	V626I	probably benign	Het
Oprm1	G	A	10: 6,773,914 (GRCm39)		probably benign	Het
Or52w1	A	G	7: 105,017,680 (GRCm39)	Y49C	probably damaging	Het
Or8a1b	C	T	9: 37,623,204 (GRCm39)	V124M	probably damaging	Het
Pde2a	A	G	7: 101,156,927 (GRCm39)	Y637C	probably damaging	Het
Pde4d	T	C	13: 110,071,924 (GRCm39)	V306A	probably damaging	Het
Pdzd9	G	A	7: 120,269,498 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,947,017 (GRCm39)	D810V	probably damaging	Het
Pkd1l3	A	T	8: 110,392,304 (GRCm39)	H1966L	probably benign	Het
Pmfbp1	C	T	8: 110,247,661 (GRCm39)	T319I	possibly damaging	Het
Pramel28	T	C	4: 143,692,314 (GRCm39)	Q229R	probably benign	Het
Prb1c	G	C	6: 132,338,856 (GRCm39)	Q121E	unknown	Het
Psg18	T	A	7: 18,087,450 (GRCm39)	R69S	possibly damaging	Het
Ptprg	A	T	14: 12,213,638 (GRCm38)	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,290,984 (GRCm39)	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,293,542 (GRCm39)	T105A	probably benign	Het
Rbm12	A	T	2: 155,937,481 (GRCm39)	D930E	unknown	Het
Rlf	A	C	4: 121,007,784 (GRCm39)	S509A	possibly damaging	Het
Slc39a3	C	A	10: 80,869,499 (GRCm39)	G53C	probably damaging	Het
Smchd1	G	A	17: 71,670,017 (GRCm39)	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,247,715 (GRCm39)	E52A	unknown	Het
Stat1	A	G	1: 52,182,086 (GRCm39)	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,592,923 (GRCm39)	E64G	probably benign	Het
Ttll11	A	T	2: 35,869,392 (GRCm39)	V82D	probably benign	Het
Ttn	T	A	2: 76,570,977 (GRCm39)	T26639S	probably damaging	Het
Usp53	A	T	3: 122,727,725 (GRCm39)	N952K	probably benign	Het
Vps13b	G	A	15: 35,422,537 (GRCm39)	D166N	probably damaging	Het
Zfp954	C	A	7: 7,119,097 (GRCm39)	C149F	probably benign	Het

Other mutations in Vmn1r199

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Vmn1r199	APN	13	22,567,029 (GRCm39)	missense	possibly damaging	0.64
IGL01959:Vmn1r199	APN	13	22,567,290 (GRCm39)	missense	probably benign	0.07
IGL02270:Vmn1r199	APN	13	22,567,176 (GRCm39)	missense	probably damaging	1.00
IGL02687:Vmn1r199	APN	13	22,566,961 (GRCm39)	missense	possibly damaging	0.91
IGL03143:Vmn1r199	APN	13	22,567,299 (GRCm39)	missense	probably damaging	1.00
R0528:Vmn1r199	UTSW	13	22,566,736 (GRCm39)	missense	probably benign
R1411:Vmn1r199	UTSW	13	22,567,671 (GRCm39)	missense	probably benign	0.01
R2075:Vmn1r199	UTSW	13	22,567,435 (GRCm39)	missense	probably damaging	1.00
R5057:Vmn1r199	UTSW	13	22,567,575 (GRCm39)	missense	possibly damaging	0.93
R5824:Vmn1r199	UTSW	13	22,567,748 (GRCm39)	missense	probably benign
R5977:Vmn1r199	UTSW	13	22,567,416 (GRCm39)	missense	probably benign	0.08
R6019:Vmn1r199	UTSW	13	22,566,769 (GRCm39)	missense	possibly damaging	0.85
R6419:Vmn1r199	UTSW	13	22,567,777 (GRCm39)	missense	possibly damaging	0.66
R7624:Vmn1r199	UTSW	13	22,566,906 (GRCm39)	missense	probably benign	0.00
R7637:Vmn1r199	UTSW	13	22,566,845 (GRCm39)	missense	probably benign	0.05
R8505:Vmn1r199	UTSW	13	22,567,317 (GRCm39)	missense	probably benign	0.01
R8692:Vmn1r199	UTSW	13	22,567,809 (GRCm39)	makesense	probably null
R8735:Vmn1r199	UTSW	13	22,567,537 (GRCm39)	missense	probably damaging	1.00
R8791:Vmn1r199	UTSW	13	22,567,687 (GRCm39)	missense	probably damaging	1.00
R9258:Vmn1r199	UTSW	13	22,566,822 (GRCm39)	missense	possibly damaging	0.53
R9586:Vmn1r199	UTSW	13	22,567,716 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGAACTCCTCCTGAGCTG -3'
(R):5'- TGCTAAGATAAACCTCAGTGCAAG -3'

Sequencing Primer
(F):5'- AACTCCTCCTGAGCTGAGAGC -3'
(R):5'- TAAACCTCAGTGCAAGGCTTG -3'

Posted On

2021-11-19