Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Vmn1r49'

48226

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r49

Ensembl Gene

ENSMUSG00000095932

Gene Name

vomeronasal 1, receptor 49

Synonyms

V1rb2, VRi2, V1r5

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90049068-90050000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90049720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 94 (L94P)

Ref Sequence

ENSEMBL: ENSMUSP00000154456 (fasta)

Gene Model

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

AlphaFold

Q9WUF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000071865
AA Change: L94P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071762
Gene: ENSMUSG00000095932
AA Change: L94P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203791
AA Change: L94P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145107
Gene: ENSMUSG00000095932
AA Change: L94P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226368
AA Change: L94P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,292,024 (GRCm39)		probably benign	Het
Acer1	T	C	17: 57,262,569 (GRCm39)	T194A	probably benign	Het
Adamts1	C	A	16: 85,597,241 (GRCm39)	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,081,911 (GRCm39)	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,468,282 (GRCm39)	S373T	probably damaging	Het
Asic5	A	T	3: 81,916,833 (GRCm39)	I266F	probably benign	Het
Cacna1d	A	T	14: 29,901,232 (GRCm39)	I274K	probably damaging	Het
Camsap2	G	T	1: 136,221,126 (GRCm39)	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cerk	G	A	15: 86,040,849 (GRCm39)	T170I	probably damaging	Het
Cyp27b1	T	C	10: 126,885,985 (GRCm39)		probably null	Het
Cyp2c65	T	C	19: 39,070,792 (GRCm39)		probably benign	Het
Dennd5a	A	G	7: 109,533,968 (GRCm39)	S75P	probably damaging	Het
Dhx9	C	T	1: 153,354,662 (GRCm39)	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,935,410 (GRCm39)	D171G	probably damaging	Het
Dsg3	A	G	18: 20,662,082 (GRCm39)	N449S	probably benign	Het
Eps8l3	T	C	3: 107,790,776 (GRCm39)	S189P	probably benign	Het
Exph5	A	G	9: 53,284,062 (GRCm39)	E381G	probably benign	Het
Fbxo46	A	G	7: 18,870,799 (GRCm39)	M473V	possibly damaging	Het
Fgf14	G	A	14: 124,221,196 (GRCm39)	P203S	probably damaging	Het
Foxf2	C	T	13: 31,810,226 (GRCm39)	A55V	unknown	Het
Galnt5	T	G	2: 57,925,385 (GRCm39)		probably benign	Het
Glis2	T	C	16: 4,429,416 (GRCm39)	L181P	probably damaging	Het
Gm10000	T	G	12: 104,442,667 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,869,563 (GRCm39)	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,852 (GRCm39)	N262D	probably benign	Het
Lgr4	T	C	2: 109,841,665 (GRCm39)	L526P	probably damaging	Het
Mapk1	A	T	16: 16,833,910 (GRCm39)	I88F	probably benign	Het
Mpg	A	T	11: 32,181,853 (GRCm39)	H287L	probably benign	Het
Mpp4	A	T	1: 59,163,886 (GRCm39)	Y489*	probably null	Het
Mpzl1	T	C	1: 165,429,359 (GRCm39)	E224G	probably damaging	Het
Myh10	A	G	11: 68,702,425 (GRCm39)		probably null	Het
Odad2	A	C	18: 7,223,621 (GRCm39)	L474R	probably damaging	Het
Or13p8	T	A	4: 118,583,831 (GRCm39)	I129K	probably damaging	Het
Or5m9	T	C	2: 85,877,548 (GRCm39)	S241P	probably damaging	Het
Paip1	T	A	13: 119,584,326 (GRCm39)	F196I	probably damaging	Het
Pde3a	A	T	6: 141,444,383 (GRCm39)	K1064*	probably null	Het
Pira2	A	T	7: 3,847,196 (GRCm39)		probably benign	Het
Pros1	A	G	16: 62,723,881 (GRCm39)	S210G	probably benign	Het
Rbm15	A	T	3: 107,238,685 (GRCm39)	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,132,751 (GRCm39)	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Serpina1e	G	A	12: 103,915,486 (GRCm39)	T240I	probably benign	Het
Setx	T	G	2: 29,047,145 (GRCm39)	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,758,477 (GRCm39)	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366 (GRCm39)	V300A	probably damaging	Het
Spata46	A	G	1: 170,139,178 (GRCm39)	Y59C	probably damaging	Het
Supt3	T	C	17: 45,430,158 (GRCm39)	F404L	probably benign	Het
Tars1	T	A	15: 11,394,452 (GRCm39)	K62*	probably null	Het
Tas2r139	A	C	6: 42,118,425 (GRCm39)	T186P	probably damaging	Het
Tasor2	T	A	13: 3,616,964 (GRCm39)	T2367S	possibly damaging	Het
Tc2n	C	T	12: 101,615,454 (GRCm39)	S457N	probably damaging	Het
Tox4	A	T	14: 52,530,085 (GRCm39)	S582C	probably benign	Het
Trappc12	T	C	12: 28,747,133 (GRCm39)		probably benign	Het
Ubqlnl	G	T	7: 103,797,845 (GRCm39)	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,119,435 (GRCm39)	T205A	probably benign	Het
Urb1	G	A	16: 90,574,310 (GRCm39)	Q924*	probably null	Het
Vmn2r120	T	C	17: 57,815,949 (GRCm39)	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		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
IGL03308:Vmn1r49	APN	6	90,049,341 (GRCm39)	missense	possibly damaging	0.67
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

Predicted Primers

PCR Primer
(F):5'- AGAGCTACCATGTACCCACTGGAC -3'
(R):5'- CCTTGGTGAGAACAAGCCTAAACCC -3'

Sequencing Primer
(F):5'- GAGTGGAAAACCTGCTTTCTC -3'
(R):5'- AAACCCATTGATCTCTACATTGC -3'

Posted On

2013-06-12