Mutagenetix > Incidental Mutation

Incidental Mutation 'R9656:Vmn1r43'

727318

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r43

Ensembl Gene

ENSMUSG00000068231

Gene Name

vomeronasal 1 receptor 43

Synonyms

V1ra5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9656 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89858934-89876413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89870458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 15 (H15Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086839 (fasta)

Gene Model

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

AlphaFold

Q8VIC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089418
AA Change: H15Q

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: H15Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226741
AA Change: H15Q

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226983
AA Change: H15Q

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000227279

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228709
AA Change: H15Q

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	G	A	8: 9,987,991	G196E	possibly damaging	Het
Atad5	G	T	11: 80,089,716		probably benign	Het
Atxn2	C	T	5: 121,783,998	T635I	possibly damaging	Het
Bbs10	T	A	10: 111,299,684	N219K	probably benign	Het
Bsn	T	A	9: 108,117,208	T623S	probably benign	Het
Btnl9	T	C	11: 49,169,181	D580G	probably damaging	Het
Cckar	A	G	5: 53,699,976	L364P	probably damaging	Het
Cfap46	A	T	7: 139,655,900	M631K		Het
Col1a1	T	A	11: 94,948,546	S1006T	unknown	Het
Cpe	T	C	8: 64,594,946	Y428C	probably damaging	Het
Cyp2d26	C	A	15: 82,792,858	V122L	probably benign	Het
Fam114a1	T	C	5: 65,005,903	I181T	probably benign	Het
Fam83b	A	G	9: 76,545,581	V68A	probably benign	Het
Fanca	A	C	8: 123,304,743	V403G	probably benign	Het
Gm17359	T	A	3: 79,405,876	F86I	probably benign	Het
Gm597	G	T	1: 28,777,455	H499N	probably benign	Het
Grin2a	T	C	16: 9,579,607	H872R	possibly damaging	Het
Grpel2	G	T	18: 61,726,290	R4S	probably benign	Het
Gstm1	T	C	3: 108,017,756	Y7C	probably damaging	Het
Hace1	A	T	10: 45,671,449	I497F	probably benign	Het
Hspg2	T	C	4: 137,551,885	V3093A	probably benign	Het
Ighv3-4	A	T	12: 114,253,675	F99I	possibly damaging	Het
Ints3	T	C	3: 90,392,532	M963V	probably null	Het
Krt12	T	C	11: 99,418,645	E263G		Het
L1td1	T	C	4: 98,733,986	F262L	probably benign	Het
Lrp2bp	A	G	8: 46,013,121	H110R	probably benign	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Ncoa6	A	G	2: 155,432,926	I135T	probably damaging	Het
Nfatc3	G	A	8: 106,104,134	R695H	probably damaging	Het
Nkx1-2	T	A	7: 132,599,499	K10*	probably null	Het
Olfr1278	A	T	2: 111,292,288	T7S	probably benign	Het
Olfr1444	A	G	19: 12,861,883	Y36C	probably damaging	Het
Olfr1464-ps1	T	C	19: 13,282,671	H129R	possibly damaging	Het
Olfr314	G	A	11: 58,786,809	A192T	possibly damaging	Het
Otog	A	G	7: 46,310,143	T719A	probably damaging	Het
Prkdc	T	G	16: 15,799,954	I3216M	probably benign	Het
Pygm	A	G	19: 6,388,157	D252G	probably benign	Het
Rae1	T	A	2: 173,012,797	Y332*	probably null	Het
Rbm12	A	T	2: 156,098,201	D50E	unknown	Het
Rbm6	G	A	9: 107,779,579	R1000W	probably damaging	Het
Rd3l	A	T	12: 111,980,180	V54E	possibly damaging	Het
Rft1	T	C	14: 30,682,757	V370A	probably benign	Het
Rfx8	T	C	1: 39,670,519	I449M	probably benign	Het
Satb1	A	T	17: 51,805,236	S117T	possibly damaging	Het
Slc24a2	T	C	4: 87,049,907	Y370C	probably damaging	Het
Slc5a4b	C	A	10: 76,108,557	V85L	probably damaging	Het
Snrpn	A	T	7: 59,985,967	V95E	possibly damaging	Het
Spata33	A	T	8: 123,222,019	N130I	possibly damaging	Het
Tap1	A	G	17: 34,193,551	S521G	probably damaging	Het
Tbc1d13	C	T	2: 30,142,417	T180I	possibly damaging	Het
Tgm7	G	A	2: 121,109,710		probably benign	Het
Tiam1	A	G	16: 89,867,571	M583T	probably damaging	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Wisp2	A	G	2: 163,829,065	D164G	probably benign	Het
Zfp329	A	T	7: 12,810,490	V369E	probably damaging	Het
Zfp467	T	A	6: 48,442,669	E35V	possibly 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
R5717:Vmn1r43	UTSW	6	89869923	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
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'- CCAGAAGCATCAGTAGGTGG -3'
(R):5'- GCAGTATTTAATGTTGAGGGAGCTC -3'

Sequencing Primer
(F):5'- CATCAGTAGGTGGATTAGGGAC -3'
(R):5'- ATGTTGAGGGAGCTCACGCAC -3'

Posted On

2022-10-06