Mutagenetix > Incidental Mutation

Incidental Mutation 'R5098:Vmn1r40'

388124

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r40

Ensembl Gene

ENSMUSG00000096051

Gene Name

vomeronasal 1 receptor 40

Synonyms

V1rb7

MMRRC Submission

042687-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5098 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89688243-89692117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89691930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 249 (V249A)

Ref Sequence

ENSEMBL: ENSMUSP00000154581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075158] [ENSMUST00000226925] [ENSMUST00000227669] [ENSMUST00000228485] [ENSMUST00000228642]

AlphaFold

Q9EQ46

Predicted Effect

probably damaging
Transcript: ENSMUST00000075158
AA Change: V249A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074655
Gene: ENSMUSG00000096051
AA Change: V249A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	3.4e-143	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226925
AA Change: V249A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227669
AA Change: V66A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228485
AA Change: V66A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228642
AA Change: V249A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,847,944 (GRCm39)	I784V	probably benign	Het
Agxt	A	G	1: 93,065,029 (GRCm39)	H146R	probably benign	Het
Art5	A	G	7: 101,747,177 (GRCm39)	F201L	probably damaging	Het
Bcl2a1b	T	A	9: 89,081,432 (GRCm39)	M7K	probably benign	Het
Card10	G	A	15: 78,660,917 (GRCm39)	A1030V	probably benign	Het
Ccdc66	G	A	14: 27,220,750 (GRCm39)	T58M	probably damaging	Het
Cd72	C	T	4: 43,452,610 (GRCm39)	G74R	probably damaging	Het
Cdc27	T	C	11: 104,398,113 (GRCm39)	K749R	probably damaging	Het
Commd3	A	T	2: 18,678,988 (GRCm39)	T102S	possibly damaging	Het
Cyp2f2	A	G	7: 26,829,304 (GRCm39)	T270A	possibly damaging	Het
Dclre1b	A	G	3: 103,716,452 (GRCm39)		probably benign	Het
Dennd1b	T	A	1: 139,061,459 (GRCm39)	D380E	probably damaging	Het
Dhx58	T	C	11: 100,585,999 (GRCm39)	E674G	probably benign	Het
Dnaaf9	A	G	2: 130,640,101 (GRCm39)	S128P	probably damaging	Het
Ecpas	T	C	4: 58,877,048 (GRCm39)	D129G	probably damaging	Het
Exoc5	T	C	14: 49,286,304 (GRCm39)	T108A	possibly damaging	Het
Fat4	T	C	3: 38,942,438 (GRCm39)	S444P	probably benign	Het
Gm3327	A	T	14: 44,362,292 (GRCm39)	I64F	unknown	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpr15	T	A	16: 58,538,890 (GRCm39)	R66S	probably damaging	Het
Hmga1b	T	C	11: 120,654,018 (GRCm39)	S102P	probably benign	Het
Kat6b	G	A	14: 21,669,083 (GRCm39)		probably benign	Het
Kdm1b	A	G	13: 47,216,467 (GRCm39)	Y279C	probably damaging	Het
Krtap9-3	C	A	11: 99,488,816 (GRCm39)	C22F	probably benign	Het
Map3k14	T	A	11: 103,115,185 (GRCm39)	D817V	probably damaging	Het
Mybpc1	T	C	10: 88,381,926 (GRCm39)	D588G	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t6	A	G	14: 14,175,683 (GRCm38)	V133A	probably benign	Het
Or5g29	A	G	2: 85,420,976 (GRCm39)	I31V	probably benign	Het
Pcdhb20	A	G	18: 37,637,858 (GRCm39)	D128G	probably damaging	Het
Pgap6	A	T	17: 26,337,902 (GRCm39)	N429Y	probably damaging	Het
Ppil6	A	G	10: 41,366,616 (GRCm39)	E47G	probably null	Het
Rad17	A	T	13: 100,754,154 (GRCm39)	*689K	probably null	Het
Scin	A	T	12: 40,127,541 (GRCm39)	Y416*	probably null	Het
Serf1	A	G	13: 100,245,575 (GRCm39)	T18A	probably benign	Het
Sik2	T	C	9: 50,906,891 (GRCm39)		probably benign	Het
Slc39a8	C	A	3: 135,563,918 (GRCm39)	N254K	probably benign	Het
Spint3	A	G	2: 164,411,821 (GRCm39)	F63L	probably damaging	Het
Suox	A	T	10: 128,507,027 (GRCm39)	S334T	probably damaging	Het
Tas2r119	A	G	15: 32,178,228 (GRCm39)	M265V	probably benign	Het
Tmem126b	A	G	7: 90,118,850 (GRCm39)	L146P	probably damaging	Het
Trpc3	G	T	3: 36,717,047 (GRCm39)	D330E	probably benign	Het
Ugt2a2	T	C	5: 87,612,040 (GRCm39)	E290G	possibly damaging	Het
Ugt2b37	T	A	5: 87,390,812 (GRCm39)	T352S	probably damaging	Het
Zc3h18	A	G	8: 123,113,608 (GRCm39)	D200G	probably damaging	Het
Zfp652	T	C	11: 95,643,762 (GRCm39)	V140A	probably damaging	Het

Other mutations in Vmn1r40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Vmn1r40	APN	6	89,691,578 (GRCm39)	missense	probably damaging	0.99
IGL01432:Vmn1r40	APN	6	89,691,201 (GRCm39)	missense	probably benign
IGL01777:Vmn1r40	APN	6	89,691,204 (GRCm39)	missense	probably benign	0.38
IGL01834:Vmn1r40	APN	6	89,691,554 (GRCm39)	missense	possibly damaging	0.62
IGL01908:Vmn1r40	APN	6	89,691,285 (GRCm39)	missense	probably benign	0.00
IGL01908:Vmn1r40	APN	6	89,691,291 (GRCm39)	missense	probably damaging	0.97
IGL01999:Vmn1r40	APN	6	89,691,948 (GRCm39)	missense	probably benign	0.00
IGL02728:Vmn1r40	APN	6	89,691,998 (GRCm39)	missense	probably benign	0.05
IGL03169:Vmn1r40	APN	6	89,692,005 (GRCm39)	missense	probably damaging	0.97
R0448:Vmn1r40	UTSW	6	89,691,642 (GRCm39)	missense	probably benign	0.23
R0971:Vmn1r40	UTSW	6	89,691,272 (GRCm39)	missense	probably benign	0.00
R1208:Vmn1r40	UTSW	6	89,691,326 (GRCm39)	missense	probably benign	0.13
R1208:Vmn1r40	UTSW	6	89,691,326 (GRCm39)	missense	probably benign	0.13
R1448:Vmn1r40	UTSW	6	89,691,558 (GRCm39)	missense	probably damaging	1.00
R1739:Vmn1r40	UTSW	6	89,691,297 (GRCm39)	missense	probably benign	0.00
R2170:Vmn1r40	UTSW	6	89,691,957 (GRCm39)	missense	probably benign	0.11
R3151:Vmn1r40	UTSW	6	89,691,548 (GRCm39)	missense	probably benign	0.01
R3804:Vmn1r40	UTSW	6	89,691,991 (GRCm39)	missense	probably benign	0.29
R6015:Vmn1r40	UTSW	6	89,691,588 (GRCm39)	missense	probably damaging	1.00
R7216:Vmn1r40	UTSW	6	89,691,606 (GRCm39)	missense	not run
R7555:Vmn1r40	UTSW	6	89,692,026 (GRCm39)	missense	probably damaging	1.00
R7591:Vmn1r40	UTSW	6	89,691,755 (GRCm39)	missense	probably benign	0.00
R9056:Vmn1r40	UTSW	6	89,691,198 (GRCm39)	missense	probably benign	0.14
R9286:Vmn1r40	UTSW	6	89,692,079 (GRCm39)	missense	probably benign	0.03
R9344:Vmn1r40	UTSW	6	89,691,235 (GRCm39)	missense	probably benign	0.00
R9449:Vmn1r40	UTSW	6	89,691,854 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TCAGGGAAGCCTTTCTTGTCAG -3'
(R):5'- TGTTGGATTATATCAGGGTCCATACC -3'

Sequencing Primer
(F):5'- AGTCTCATGGCCCTGTCCAG -3'
(R):5'- ATTTACTATTCTGCCACACTTTGAC -3'

Posted On

2016-06-06