Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Vmn1r49'

586150

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r49

Ensembl Gene

ENSMUSG00000095932

Gene Name

vomeronasal 1, receptor 49

Synonyms

V1rb2, VRi2, V1r5

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

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

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90049068-90050000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90049843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 53 (A53V)

Ref Sequence

ENSEMBL: ENSMUSP00000145107 (fasta)

Gene Model

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

AlphaFold

Q9WUF1

Predicted Effect

probably benign
Transcript: ENSMUST00000071865
AA Change: A53V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000071762
Gene: ENSMUSG00000095932
AA Change: A53V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203791
AA Change: A53V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145107
Gene: ENSMUSG00000095932
AA Change: A53V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226368
AA Change: A53V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

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

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,509,867 (GRCm39)	V412D	probably benign	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Capns1	A	G	7: 29,891,960 (GRCm39)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Crygs	T	A	16: 22,624,069 (GRCm39)	*179C	probably null	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm39)	M41K	probably benign	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,403 (GRCm39)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,297,082 (GRCm39)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,358,658 (GRCm39)	N616D	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Unc80	G	A	1: 66,560,696 (GRCm39)	G808D	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	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
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
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'- AGGCACCTGAGATGTGATGG -3'
(R):5'- GTTGGCATTTGTGAACAAGGC -3'

Sequencing Primer
(F):5'- GCTTCTAGAACTAAGTGTGATAGTCC -3'
(R):5'- GTGAACAAGGCCATGTTTTGTAAG -3'

Posted On

2019-10-24