Mutagenetix > Incidental Mutation

Incidental Mutation 'R5717:Vmn1r43'

451214

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r43

Ensembl Gene

ENSMUSG00000068231

Gene Name

vomeronasal 1 receptor 43

Synonyms

V1ra5

MMRRC Submission

043337-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89858934-89876413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89869923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 194 (S194G)

Ref Sequence

ENSEMBL: ENSMUSP00000154510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089418] [ENSMUST00000226741] [ENSMUST00000226983] [ENSMUST00000227279] [ENSMUST00000228709]

AlphaFold

Q8VIC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000089418
AA Change: S194G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: S194G

Domain	Start	End	E-Value	Type
Pfam:V1R	54	318	2.9e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226240

Predicted Effect

probably damaging
Transcript: ENSMUST00000226741
AA Change: S194G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226983
AA Change: S194G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000227279

Predicted Effect

probably damaging
Transcript: ENSMUST00000228709
AA Change: S194G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	T	19: 42,053,045	H205L	probably benign	Het
Acss2	T	C	2: 155,561,153	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,492,334	V77A	probably benign	Het
Adnp2	A	G	18: 80,128,264	S977P	probably benign	Het
Ankrd11	T	C	8: 122,892,638	K1492E	possibly damaging	Het
B4galt5	G	A	2: 167,306,629	R190C	probably damaging	Het
Bbs1	A	G	19: 4,897,326	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,553,521		probably null	Het
Ckap2	T	C	8: 22,175,047	E467G	probably damaging	Het
Cry1	A	T	10: 85,146,416	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,885,798	M272I	probably benign	Het
Dicer1	T	A	12: 104,705,128	Y961F	probably damaging	Het
Dirc2	A	G	16: 35,719,429	F341L	probably benign	Het
Epha2	A	T	4: 141,322,071	M689L	probably benign	Het
Foxc1	C	T	13: 31,807,488	A94V	probably benign	Het
Fras1	T	C	5: 96,781,737	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,873,368		probably benign	Het
Gm5218	A	G	15: 81,499,277		noncoding transcript	Het
Gm7735	T	C	16: 89,169,542	L18P	unknown	Het
Hr	C	T	14: 70,566,176	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,691	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,336,428		probably benign	Het
Igkv8-27	T	A	6: 70,171,934	T59S	probably benign	Het
Itga11	A	G	9: 62,752,249	T428A	probably benign	Het
Klk1b16	A	G	7: 44,139,489	I49V	probably benign	Het
Matn2	G	T	15: 34,399,091	E375*	probably null	Het
Msgn1	T	C	12: 11,208,518	Y144C	probably damaging	Het
Myh1	A	G	11: 67,208,956	N564S	probably benign	Het
Mypn	A	G	10: 63,127,776	V972A	probably damaging	Het
Olfr1209	T	C	2: 88,910,022	I124V	possibly damaging	Het
Olfr235	A	G	19: 12,269,156	K309E	probably benign	Het
Olfr284	G	A	15: 98,340,365	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,687,894	S81P	probably damaging	Het
Ptgis	C	T	2: 167,208,364		probably benign	Het
Ptprr	A	G	10: 116,048,113	N25S	probably benign	Het
Rnf123	G	A	9: 108,067,424	T456I	probably damaging	Het
Rpl6l	T	C	10: 111,126,023		noncoding transcript	Het
Rps25	A	G	9: 44,408,750	Y23C	probably benign	Het
Sec24a	A	G	11: 51,707,210	V879A	probably benign	Het
Sema6a	G	A	18: 47,249,263	A739V	probably benign	Het
Senp6	A	T	9: 80,092,312	I4F	probably damaging	Het
Stoml3	A	T	3: 53,505,516	Q197L	probably damaging	Het
Ttn	T	A	2: 76,747,747	K24267N	probably damaging	Het
Vmn2r17	C	T	5: 109,427,274	T149I	possibly damaging	Het
Wdr72	T	A	9: 74,148,205	Y239N	probably damaging	Het
Zfp423	A	T	8: 87,686,559		probably null	Het
Zfp759	T	A	13: 67,138,708	C114S	probably damaging	Het

Other mutations in Vmn1r43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01748:Vmn1r43	APN	6	89870312	missense	probably damaging	1.00
IGL02476:Vmn1r43	APN	6	89870061	missense	possibly damaging	0.95
IGL02958:Vmn1r43	APN	6	89870049	missense	probably benign	0.09
R0413:Vmn1r43	UTSW	6	89869848	missense	probably damaging	1.00
R1662:Vmn1r43	UTSW	6	89869590	missense	possibly damaging	0.76
R1668:Vmn1r43	UTSW	6	89869701	missense	probably benign	0.01
R4419:Vmn1r43	UTSW	6	89869647	missense	probably benign	0.01
R4719:Vmn1r43	UTSW	6	89869855	missense	probably benign	0.02
R4798:Vmn1r43	UTSW	6	89869910	missense	probably benign	0.01
R5520:Vmn1r43	UTSW	6	89869746	missense	probably damaging	0.98
R5643:Vmn1r43	UTSW	6	89870372	missense	probably damaging	1.00
R5644:Vmn1r43	UTSW	6	89870372	missense	probably damaging	1.00
R6647:Vmn1r43	UTSW	6	89869859	missense	probably damaging	1.00
R6914:Vmn1r43	UTSW	6	89870337	missense	probably benign	0.02
R6942:Vmn1r43	UTSW	6	89870337	missense	probably benign	0.02
R7092:Vmn1r43	UTSW	6	89869903	missense	probably benign	0.02
R7402:Vmn1r43	UTSW	6	89869821	missense	probably benign	0.02
R7457:Vmn1r43	UTSW	6	89870190	missense	probably damaging	0.98
R7572:Vmn1r43	UTSW	6	89869565	missense	possibly damaging	0.93
R7807:Vmn1r43	UTSW	6	89870237	missense	probably benign	0.07
R8406:Vmn1r43	UTSW	6	89870432	missense	possibly damaging	0.55
R8696:Vmn1r43	UTSW	6	89870339	missense	probably damaging	0.99
R8859:Vmn1r43	UTSW	6	89869955	missense	probably damaging	1.00
R8894:Vmn1r43	UTSW	6	89869764	missense	probably benign	0.02
R9072:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9073:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9075:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9076:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9237:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9239:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9240:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9293:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9383:Vmn1r43	UTSW	6	89869570	missense	possibly damaging	0.94
R9398:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9399:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9401:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9402:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9594:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9595:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9596:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9624:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9628:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9656:Vmn1r43	UTSW	6	89870458	missense	possibly damaging	0.47
X0020:Vmn1r43	UTSW	6	89870334	missense	probably benign	0.00
Z1177:Vmn1r43	UTSW	6	89870485	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCATGAGCATCAGGATGG -3'
(R):5'- CATTCTTAGTCCCAGAAGCTCC -3'

Sequencing Primer
(F):5'- CATCAGGATGGTCTGGGTAGCAC -3'
(R):5'- GTCCCAGAAGCTCCTGTTTATCAAAG -3'

Posted On

2017-01-03