Mutagenetix > Incidental Mutation

Incidental Mutation 'R9018:Vmn2r83'

686152

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r83

Ensembl Gene

ENSMUSG00000091381

Gene Name

vomeronasal 2, receptor 83

Synonyms

EG625029

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R9018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79468943-79492154 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79480186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 472 (N472S)

Ref Sequence

ENSEMBL: ENSMUSP00000131426 (fasta)

Gene Model

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

AlphaFold

E9Q0G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000167976
AA Change: N472S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131426
Gene: ENSMUSG00000091381
AA Change: N472S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,289,540	K1236N	probably benign	Het
Abca14	A	G	7: 120,319,309	E1552G	probably damaging	Het
Adam3	A	T	8: 24,694,276	Y569*	probably null	Het
Adgrb2	A	G	4: 130,013,866	T998A	probably benign	Het
Adgre4	T	A	17: 55,791,993	H166Q	probably benign	Het
Ank1	G	A	8: 23,116,248	G1219S	probably null	Het
Ankrd11	A	G	8: 122,895,512	S534P	probably damaging	Het
Atn1	C	T	6: 124,745,698	E805K	unknown	Het
Bsn	T	C	9: 108,117,289	T596A	probably benign	Het
Cacnb4	C	T	2: 52,434,694	R452Q	probably benign	Het
Cdc123	C	A	2: 5,844,872	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083	G1609S	possibly damaging	Het
Cp	T	A	3: 19,989,152	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,865,637	C1383S	probably damaging	Het
Derl3	G	A	10: 75,893,770	V54I	probably benign	Het
Dgcr6	T	C	16: 18,066,743	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,673,621	E57G	probably benign	Het
Dst	A	G	1: 34,196,059	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,860,109	T415A	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fbln1	T	C	15: 85,242,014	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,438,245	K72Q	probably benign	Het
Impg1	T	A	9: 80,394,192	I228F	probably benign	Het
Itsn2	A	G	12: 4,658,091	N799S	possibly damaging	Het
Jade1	T	A	3: 41,609,857	C521S	probably benign	Het
Katna1	T	G	10: 7,761,276	L397R	probably damaging	Het
Kcnj15	A	C	16: 95,296,270	K250N	probably damaging	Het
Lrrc6	A	T	15: 66,449,630	S221T	probably benign	Het
Macc1	A	G	12: 119,446,206	I236M	possibly damaging	Het
Mapk13	C	T	17: 28,777,786	R276C	probably benign	Het
Mier2	G	A	10: 79,548,440	R166W	probably damaging	Het
Mindy4	C	T	6: 55,301,087	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,298,650	S544P	probably benign	Het
Muc4	T	C	16: 32,762,536	Y492H		Het
Mybbp1a	C	T	11: 72,443,594	T225I	probably benign	Het
Myo6	A	T	9: 80,251,804	K285I	unknown	Het
Nmd3	G	A	3: 69,739,995	V277I	probably benign	Het
Nol9	G	C	4: 152,039,461	R36P	probably damaging	Het
Nom1	A	G	5: 29,434,714	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,939,286	H40Y	probably damaging	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr1375	G	A	11: 51,048,111	M1I	probably null	Het
Olfr1474	A	T	19: 13,471,357	H87L	possibly damaging	Het
Olfr933	T	A	9: 38,976,391	F238L	probably benign	Het
Pcnx4	T	A	12: 72,556,663	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Pgghg	A	G	7: 140,944,666	I309V	probably benign	Het
Phf12	C	T	11: 78,023,684	P651S	possibly damaging	Het
Pltp	A	G	2: 164,852,490	L199P	probably damaging	Het
Pole	T	A	5: 110,289,809	L78I	probably benign	Het
Ppm1d	C	A	11: 85,337,135	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 33,615,759	I224L	probably benign	Het
Rabggta	A	T	14: 55,720,423	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,748,397	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,249,266	E970K	probably benign	Het
Rnh1	A	T	7: 141,168,631	V11D	probably benign	Het
Robo4	C	T	9: 37,404,224	T288I	probably benign	Het
Scmh1	A	G	4: 120,505,317	D250G	probably benign	Het
Sele	T	A	1: 164,053,679	C483S	probably damaging	Het
Slc12a6	A	G	2: 112,344,240		probably benign	Het
Slc5a4a	A	G	10: 76,166,712	E234G	possibly damaging	Het
Smarca5	A	G	8: 80,704,726	L954P	probably damaging	Het
St7	T	A	6: 17,906,495	N413K	probably damaging	Het
Stam2	C	T	2: 52,716,451	V141I	probably benign	Het
Stim1	C	T	7: 102,411,275	T175I	probably benign	Het
Strap	A	G	6: 137,739,813	N130S	probably benign	Het
Stxbp2	A	G	8: 3,642,627		probably benign	Het
Sult3a2	T	A	10: 33,779,693	I97F	probably benign	Het
Tbc1d32	A	T	10: 56,072,597	N965K	probably benign	Het
Tle3	T	A	9: 61,412,468	I506N	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tvp23a	A	G	16: 10,446,982	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,396,705	N846S	probably damaging	Het
Xpo7	G	A	14: 70,707,424	Q10*	probably null	Het
Zfp423	G	C	8: 87,781,753	S654R	probably benign	Het
Zfp646	A	T	7: 127,879,071	H140L	probably benign	Het
Zfp719	C	A	7: 43,584,065		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
R5980:Vmn2r83	UTSW	10	79478792	missense	probably benign	0.04
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
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'- CCAATTGGTATGTCCTTGATCTTAC -3'
(R):5'- TTGGTGGTGATAAATACAGCCAAAG -3'

Sequencing Primer
(F):5'- AGCTTCACCCTTTTCTGAG -3'
(R):5'- GCCAAAGGTCATTAGATCCAGTATC -3'

Posted On

2021-10-11