Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03308:Vmn1r49'

416435

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r49

Ensembl Gene

ENSMUSG00000095932

Gene Name

vomeronasal 1, receptor 49

Synonyms

V1rb2, VRi2, V1r5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL03308

Quality Score

Status

Chromosome

Chromosomal Location

90049068-90050000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90049341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 220 (H220Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071865] [ENSMUST00000203791] [ENSMUST00000226368]

AlphaFold

Q9WUF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071865
AA Change: H220Q

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071762
Gene: ENSMUSG00000095932
AA Change: H220Q

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	5e-165	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203791
AA Change: H220Q

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145107
Gene: ENSMUSG00000095932
AA Change: H220Q

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	5e-165	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226368
AA Change: H220Q

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a non-functional knock-in allele display abnormal patterns of axonal projections in the accessory olfactory bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,821 (GRCm39)	I216V	probably damaging	Het
Abcc1	A	G	16: 14,288,475 (GRCm39)	I1367V	possibly damaging	Het
Ap1g2	T	A	14: 55,342,333 (GRCm39)	I175F	probably benign	Het
Atad2	A	G	15: 57,965,919 (GRCm39)	V671A	probably benign	Het
Ccdc134	A	G	15: 82,015,721 (GRCm39)	D67G	probably damaging	Het
Cdk17	G	A	10: 93,057,506 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,369,777 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,719,675 (GRCm39)	L228P	unknown	Het
Eef1a2	A	G	2: 180,790,629 (GRCm39)		probably benign	Het
Fars2	T	G	13: 36,388,670 (GRCm39)	I53R	possibly damaging	Het
Frmd4a	G	T	2: 4,502,837 (GRCm39)	A98S	possibly damaging	Het
Gprin1	T	A	13: 54,887,957 (GRCm39)	M106L	probably benign	Het
Hspb8	T	C	5: 116,547,401 (GRCm39)	T194A	possibly damaging	Het
Ift27	A	G	15: 78,050,215 (GRCm39)	S65P	probably damaging	Het
Inpp5d	A	C	1: 87,630,919 (GRCm39)	Y430S	probably damaging	Het
Kat6b	T	C	14: 21,674,902 (GRCm39)	S356P	probably damaging	Het
Limch1	C	T	5: 67,159,901 (GRCm39)	T443M	possibly damaging	Het
Mcf2l	C	T	8: 13,059,512 (GRCm39)	R708C	probably damaging	Het
Mlf1	T	C	3: 67,305,140 (GRCm39)	W214R	probably damaging	Het
Naga	A	T	15: 82,220,088 (GRCm39)	L153Q	probably damaging	Het
Nbas	A	G	12: 13,374,349 (GRCm39)	Q559R	possibly damaging	Het
Or2ab1	T	C	11: 58,488,525 (GRCm39)	F101S	probably damaging	Het
Or2t6	T	A	14: 14,175,161 (GRCm38)	H307L	probably benign	Het
Prex2	A	G	1: 11,255,399 (GRCm39)	D1148G	possibly damaging	Het
Prss23	A	C	7: 89,158,938 (GRCm39)	L377R	probably benign	Het
Ptprc	G	T	1: 138,054,058 (GRCm39)	T27K	possibly damaging	Het
Rnf213	A	G	11: 119,364,998 (GRCm39)	T4553A	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Skint3	T	C	4: 112,111,264 (GRCm39)	F130L	probably damaging	Het
Slc8a1	A	G	17: 81,749,624 (GRCm39)		probably benign	Het
Stau1	T	C	2: 166,792,240 (GRCm39)	N433D	probably damaging	Het
Tapbpl	G	A	6: 125,205,142 (GRCm39)	A268V	possibly damaging	Het
Tmem131l	T	C	3: 83,848,209 (GRCm39)	I314V	probably benign	Het
Tmem44	A	G	16: 30,362,566 (GRCm39)	W151R	probably damaging	Het
Tnnc1	T	C	14: 30,931,798 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,461 (GRCm39)	N530T	probably damaging	Het
Ttn	A	G	2: 76,576,907 (GRCm39)	I24662T	probably damaging	Het
Vmn2r106	A	T	17: 20,498,785 (GRCm39)	C375*	probably null	Het
Vps26b	T	C	9: 26,940,796 (GRCm39)	Y41C	probably damaging	Het
Wdr64	T	C	1: 175,594,562 (GRCm39)		probably benign	Het
Xylt1	C	T	7: 117,236,978 (GRCm39)	Q576*	probably null	Het
Zfp106	T	C	2: 120,354,505 (GRCm39)	D1422G	probably benign	Het

Other mutations in Vmn1r49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Vmn1r49	APN	6	90,049,394 (GRCm39)	missense	probably damaging	0.99
IGL03230:Vmn1r49	APN	6	90,049,650 (GRCm39)	missense	probably damaging	1.00
R0517:Vmn1r49	UTSW	6	90,049,720 (GRCm39)	missense	probably damaging	0.98
R0638:Vmn1r49	UTSW	6	90,049,648 (GRCm39)	missense	possibly damaging	0.95
R1498:Vmn1r49	UTSW	6	90,049,298 (GRCm39)	missense	probably damaging	1.00
R1649:Vmn1r49	UTSW	6	90,049,623 (GRCm39)	missense	possibly damaging	0.66
R1668:Vmn1r49	UTSW	6	90,049,764 (GRCm39)	missense	probably benign	0.07
R1816:Vmn1r49	UTSW	6	90,049,785 (GRCm39)	missense	possibly damaging	0.93
R2071:Vmn1r49	UTSW	6	90,049,184 (GRCm39)	missense	probably benign	0.00
R2155:Vmn1r49	UTSW	6	90,049,441 (GRCm39)	missense	probably damaging	0.99
R2274:Vmn1r49	UTSW	6	90,049,126 (GRCm39)	missense	probably benign	0.23
R4222:Vmn1r49	UTSW	6	90,049,228 (GRCm39)	missense	probably benign	0.06
R4614:Vmn1r49	UTSW	6	90,049,534 (GRCm39)	missense	probably benign	0.00
R4797:Vmn1r49	UTSW	6	90,049,612 (GRCm39)	missense	probably benign	0.13
R4978:Vmn1r49	UTSW	6	90,049,872 (GRCm39)	missense	probably benign	0.30
R5227:Vmn1r49	UTSW	6	90,049,753 (GRCm39)	missense	probably benign	0.00
R5959:Vmn1r49	UTSW	6	90,049,786 (GRCm39)	missense	probably damaging	1.00
R6741:Vmn1r49	UTSW	6	90,049,195 (GRCm39)	missense	probably benign	0.19
R6744:Vmn1r49	UTSW	6	90,049,184 (GRCm39)	missense	probably benign	0.00
R7173:Vmn1r49	UTSW	6	90,049,250 (GRCm39)	missense	possibly damaging	0.96
R7457:Vmn1r49	UTSW	6	90,049,534 (GRCm39)	missense	probably benign	0.00
R7573:Vmn1r49	UTSW	6	90,049,843 (GRCm39)	missense	probably benign	0.06
R8360:Vmn1r49	UTSW	6	90,049,991 (GRCm39)	missense	probably benign	0.06
R8399:Vmn1r49	UTSW	6	90,049,689 (GRCm39)	nonsense	probably null
R9560:Vmn1r49	UTSW	6	90,049,382 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02