Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Vmn2r83'

481390

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r83

Ensembl Gene

ENSMUSG00000091381

Gene Name

vomeronasal 2, receptor 83

Synonyms

EG625029

MMRRC Submission

044162-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79468943-79492154 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79478792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 291 (H291Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167976]

AlphaFold

E9Q0G7

Predicted Effect

probably benign
Transcript: ENSMUST00000167976
AA Change: H291Q

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131426
Gene: ENSMUSG00000091381
AA Change: H291Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	79	473	1.5e-33	PFAM
Pfam:NCD3G	516	569	6.2e-22	PFAM
Pfam:7tm_3	602	837	8.1e-52	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,567,055	N508D	possibly damaging	Het
Ago1	C	T	4: 126,460,569		probably benign	Het
Apol6	A	T	15: 77,051,019	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,356,269	T33A	probably benign	Het
Atg7	C	A	6: 114,680,236	F132L	possibly damaging	Het
Cep104	C	A	4: 153,988,473	A396E	probably benign	Het
Cers4	T	A	8: 4,518,269	C107*	probably null	Het
Cntn6	T	C	6: 104,848,132	S878P	probably damaging	Het
Dnah6	T	C	6: 73,181,722	K633E	probably benign	Het
Dst	T	A	1: 34,182,891	I2592K	probably benign	Het
Ep400	G	A	5: 110,733,729		probably benign	Het
Fbn1	A	G	2: 125,315,404	C2320R	probably damaging	Het
Gm17677	A	C	9: 35,741,615	D51A	probably damaging	Het
Gpi1	A	G	7: 34,228,926		probably null	Het
Gse1	T	G	8: 120,229,637		probably benign	Het
Hid1	G	A	11: 115,350,948	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,265,295	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,680,589	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,519,025	V5A	probably benign	Het
Irgq	G	A	7: 24,533,345	G204S	probably damaging	Het
Kansl1	T	C	11: 104,343,637	K681R	possibly damaging	Het
Kcnv1	C	A	15: 45,109,414	V358L	probably damaging	Het
Lrp2	A	T	2: 69,535,005	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,137,908	D155V	probably damaging	Het
Magel2	A	T	7: 62,380,596	I1083F	unknown	Het
Mta3	T	A	17: 83,708,405	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,604,151	I423T	probably damaging	Het
Mup11	A	G	4: 60,660,888	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,911,096	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509	Q72P	possibly damaging	Het
Nol4	T	A	18: 22,952,201	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,571,633	V808A	probably damaging	Het
Olfr1058	A	T	2: 86,385,797	L207*	probably null	Het
Olfr9	A	G	10: 128,990,440	H176R	probably damaging	Het
Olfr993	A	T	2: 85,414,165	F238Y	probably damaging	Het
Pik3c2b	C	A	1: 133,088,308	D869E	probably benign	Het
Pom121l2	T	C	13: 21,983,376	S606P	probably damaging	Het
Prdm15	G	A	16: 97,812,570	R517*	probably null	Het
Ralgapa1	T	A	12: 55,770,616		probably null	Het
Saraf	T	A	8: 34,165,387	F207I	probably benign	Het
Sema6d	A	G	2: 124,664,708	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,201,972	L14M	unknown	Het
Sidt1	A	T	16: 44,263,312	C485*	probably null	Het
Sptbn4	A	G	7: 27,372,171	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,980,408	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Ticrr	G	A	7: 79,660,955	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,784,598	I820F	probably benign	Het
Trafd1	A	G	5: 121,373,457	Y433H	probably damaging	Het
Trim68	A	G	7: 102,678,831	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,865,056	Y163F	possibly damaging	Het
Vmn2r95	A	G	17: 18,441,362	I457V	probably benign	Het

Other mutations in Vmn2r83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Vmn2r83	APN	10	79478971	missense	probably damaging	1.00
IGL01096:Vmn2r83	APN	10	79477828	missense	probably damaging	1.00
IGL01542:Vmn2r83	APN	10	79479012	missense	probably benign	0.30
IGL01803:Vmn2r83	APN	10	79469060	missense	probably benign	0.01
IGL02110:Vmn2r83	APN	10	79491700	missense	possibly damaging	0.82
IGL02347:Vmn2r83	APN	10	79480233	missense	possibly damaging	0.75
IGL02417:Vmn2r83	APN	10	79479047	missense	probably benign	0.00
IGL02544:Vmn2r83	APN	10	79481459	splice site	probably benign
IGL02683:Vmn2r83	APN	10	79491281	missense	probably benign
IGL02976:Vmn2r83	APN	10	79468998	missense	probably benign	0.00
PIT4378001:Vmn2r83	UTSW	10	79469015	missense	probably benign	0.00
PIT4468001:Vmn2r83	UTSW	10	79478050	missense	probably damaging	1.00
R0092:Vmn2r83	UTSW	10	79491964	missense	probably damaging	1.00
R1391:Vmn2r83	UTSW	10	79479097	missense	probably damaging	0.96
R1539:Vmn2r83	UTSW	10	79491925	missense	probably damaging	1.00
R1575:Vmn2r83	UTSW	10	79479122	missense	probably damaging	0.98
R2033:Vmn2r83	UTSW	10	79491819	missense	probably benign	0.03
R3916:Vmn2r83	UTSW	10	79478910	missense	probably benign	0.01
R3967:Vmn2r83	UTSW	10	79491320	missense	probably benign	0.00
R4840:Vmn2r83	UTSW	10	79477848	missense	possibly damaging	0.73
R5063:Vmn2r83	UTSW	10	79479087	missense	probably benign	0.04
R5630:Vmn2r83	UTSW	10	79491951	missense	possibly damaging	0.94
R5707:Vmn2r83	UTSW	10	79491349	missense	possibly damaging	0.53
R6294:Vmn2r83	UTSW	10	79477854	missense	probably damaging	0.99
R6302:Vmn2r83	UTSW	10	79469003	missense	possibly damaging	0.95
R6769:Vmn2r83	UTSW	10	79478022	missense	probably damaging	1.00
R6986:Vmn2r83	UTSW	10	79480259	missense	probably benign
R7221:Vmn2r83	UTSW	10	79480167	missense	probably benign	0.02
R7376:Vmn2r83	UTSW	10	79478956	missense	probably benign	0.00
R7431:Vmn2r83	UTSW	10	79491472	missense	probably damaging	0.99
R7501:Vmn2r83	UTSW	10	79491937	missense	probably damaging	0.98
R7526:Vmn2r83	UTSW	10	79491558	missense	probably damaging	1.00
R7663:Vmn2r83	UTSW	10	79479122	missense	probably damaging	0.98
R7881:Vmn2r83	UTSW	10	79478427	missense	probably benign	0.01
R7939:Vmn2r83	UTSW	10	79478817	missense	probably damaging	1.00
R8314:Vmn2r83	UTSW	10	79481479	missense	possibly damaging	0.76
R8364:Vmn2r83	UTSW	10	79480203	missense	probably benign	0.12
R8802:Vmn2r83	UTSW	10	79478427	missense	probably benign	0.01
R8947:Vmn2r83	UTSW	10	79469039	missense	probably benign	0.00
R8969:Vmn2r83	UTSW	10	79478019	missense	probably benign	0.15
R8983:Vmn2r83	UTSW	10	79491526	missense	probably damaging	1.00
R9018:Vmn2r83	UTSW	10	79480186	missense	probably damaging	1.00
R9082:Vmn2r83	UTSW	10	79469060	missense	probably benign	0.00
R9390:Vmn2r83	UTSW	10	79481488	nonsense	probably null
X0026:Vmn2r83	UTSW	10	79469015	missense	probably benign	0.00
X0026:Vmn2r83	UTSW	10	79478652	missense	probably benign
Z1176:Vmn2r83	UTSW	10	79478922	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GACTGCTCAGCACAGATGAC -3'
(R):5'- TACTTGAAAGGAGTGGCTTCATGC -3'

Sequencing Primer
(F):5'- CAGAGGTGCTCAGTTTCTATCAGAC -3'
(R):5'- GAGTGGCTTCATGCACAAAATTAGTG -3'

Posted On

2017-06-26