Mutagenetix > Incidental Mutation

Incidental Mutation 'R8245:Vmn2r8'

640805

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r8

Ensembl Gene

ENSMUSG00000090961

Gene Name

vomeronasal 2, receptor 8

Synonyms

EG627479

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8245 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108797193-108808754 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108798070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 557 (D557G)

Ref Sequence

ENSEMBL: ENSMUSP00000126953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004943] [ENSMUST00000172140]

AlphaFold

L7N472

Predicted Effect

probably benign
Transcript: ENSMUST00000004943

SMART Domains

Protein: ENSMUSP00000004943
Gene: ENSMUSG00000004821

Domain	Start	End	E-Value	Type
EMP24_GP25L	17	210	1.11e-59	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172140
AA Change: D557G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126953
Gene: ENSMUSG00000090961
AA Change: D557G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	78	419	1.1e-28	PFAM
Pfam:NCD3G	507	561	8.2e-18	PFAM
Pfam:7tm_3	594	829	1.1e-54	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,594,144		probably null	Het
Adam4	A	T	12: 81,419,883	C655S	probably damaging	Het
Adamts13	A	C	2: 26,990,556	D717A	probably damaging	Het
Atf7ip2	A	G	16: 10,201,398	N30S	possibly damaging	Het
Bmp8b	T	C	4: 123,114,739	V166A	probably benign	Het
Bpifb9a	G	A	2: 154,262,726	G261R	probably benign	Het
Cdipt	G	T	7: 126,979,560	M174I	probably benign	Het
Cep128	T	C	12: 90,999,645	T1063A	probably benign	Het
Ciao1	A	G	2: 127,246,484	Y140H	probably damaging	Het
Cngb1	A	G	8: 95,297,780	S217P	unknown	Het
Cnot2	T	A	10: 116,510,389	I103F	probably benign	Het
Col27a1	T	G	4: 63,225,803	V576G	probably damaging	Het
Dapk1	T	A	13: 60,730,896	H566Q	probably benign	Het
Dhrs2	T	A	14: 55,241,180	C261S	possibly damaging	Het
Ercc4	G	C	16: 13,130,137	R406P	probably benign	Het
Fer1l4	A	G	2: 156,045,014		probably null	Het
Fhod3	T	A	18: 25,113,616	F1293Y	probably damaging	Het
Fsip1	T	A	2: 118,244,878	K218M	unknown	Het
Fsip2	G	T	2: 82,981,002	S2555I	possibly damaging	Het
Gfpt2	A	G	11: 49,823,958	K358E	probably benign	Het
Gm44444	T	C	10: 129,410,106	S247P	probably damaging	Het
Gm9637	A	T	14: 19,402,598	V1D	noncoding transcript	Het
H2-M10.6	T	C	17: 36,813,263		probably null	Het
Hand2	A	G	8: 57,321,959	Y18C	probably damaging	Het
Helz2	A	T	2: 181,238,102	V607E	probably damaging	Het
Hps5	G	A	7: 46,769,061	R862*	probably null	Het
Ildr1	A	G	16: 36,709,521	D90G	probably damaging	Het
Ints12	A	G	3: 133,108,872	N280S	probably benign	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Itpr2	T	A	6: 146,373,106	K859N	probably damaging	Het
Kdelc1	A	T	1: 44,117,066	H120Q	probably benign	Het
Lhx9	G	T	1: 138,838,441	A212D	probably benign	Het
Myo6	C	T	9: 80,254,947	T322I	unknown	Het
Ndufaf4	A	G	4: 24,898,648	D71G	probably benign	Het
Nrp1	T	A	8: 128,487,953	S641T	probably benign	Het
Nudt7	A	T	8: 114,136,340	N37I	probably damaging	Het
Obscn	T	A	11: 59,022,240	I271F		Het
Olfr1015	A	G	2: 85,785,775	E88G	probably benign	Het
Olfr462	G	A	11: 87,889,617	S93F	probably damaging	Het
Olfr698	T	C	7: 106,753,167	T74A	probably benign	Het
Olfr830	T	C	9: 18,875,830	Y168H	probably benign	Het
Oxa1l	T	C	14: 54,367,817	S317P	probably damaging	Het
Polr2a	C	T	11: 69,739,953	R1213H	probably damaging	Het
Postn	A	T	3: 54,376,047	S516C	probably null	Het
Rabep2	A	G	7: 126,440,408	T336A	possibly damaging	Het
Ralgapb	G	A	2: 158,443,336	C585Y	probably damaging	Het
Rexo4	A	G	2: 26,960,338	S276P	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCTGCGGCGGC	7: 97,579,915		probably benign	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Sipa1l3	A	G	7: 29,400,364	L160P	probably damaging	Het
Sphkap	A	G	1: 83,278,771	F419S	probably benign	Het
Stag1	C	A	9: 100,929,893	T808K	probably benign	Het
Stam2	G	T	2: 52,714,919	N201K	possibly damaging	Het
Stat1	G	A	1: 52,155,019	R704Q	probably benign	Het
Tacc2	A	G	7: 130,729,573	D2236G	probably damaging	Het
Thsd7a	T	A	6: 12,379,593	Y944F		Het
Tmem225	G	T	9: 40,150,659	V190F	probably damaging	Het
Tonsl	A	T	15: 76,636,822	V400D	probably benign	Het
Tpp2	G	A	1: 43,983,552	G971D	probably damaging	Het
Trh	C	T	6: 92,243,069	V89I	probably benign	Het
Txlnb	A	G	10: 17,841,457	D404G	probably damaging	Het
Uggt1	A	G	1: 36,165,564	V990A	probably damaging	Het
Vmn1r179	T	A	7: 23,928,971	Y196N	possibly damaging	Het
Zfp516	G	T	18: 82,956,333	G219C	probably damaging	Het

Other mutations in Vmn2r8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02957:Vmn2r8	APN	5	108802225	missense	probably benign	0.01
R0324:Vmn2r8	UTSW	5	108797941	splice site	probably null
R0335:Vmn2r8	UTSW	5	108797451	splice site	probably null
R0394:Vmn2r8	UTSW	5	108802072	missense	probably benign	0.12
R0501:Vmn2r8	UTSW	5	108803183	missense	probably benign	0.03
R0615:Vmn2r8	UTSW	5	108799329	missense	probably damaging	1.00
R0678:Vmn2r8	UTSW	5	108800546	missense	probably benign	0.00
R1167:Vmn2r8	UTSW	5	108803176	missense	probably benign	0.01
R1187:Vmn2r8	UTSW	5	108803219	nonsense	probably null
R1406:Vmn2r8	UTSW	5	108802368	missense	probably benign
R1406:Vmn2r8	UTSW	5	108802368	missense	probably benign
R1451:Vmn2r8	UTSW	5	108798067	missense	probably damaging	1.00
R1535:Vmn2r8	UTSW	5	108802174	missense	probably damaging	1.00
R1795:Vmn2r8	UTSW	5	108803106	missense	probably benign
R1874:Vmn2r8	UTSW	5	108802418	missense	possibly damaging	0.74
R1908:Vmn2r8	UTSW	5	108797570	missense	probably benign	0.03
R1925:Vmn2r8	UTSW	5	108802153	missense	probably damaging	0.97
R1960:Vmn2r8	UTSW	5	108799286	missense	probably damaging	0.99
R1961:Vmn2r8	UTSW	5	108798095	missense	probably benign	0.45
R1967:Vmn2r8	UTSW	5	108802383	missense	probably benign	0.01
R2095:Vmn2r8	UTSW	5	108808621	missense	possibly damaging	0.94
R2159:Vmn2r8	UTSW	5	108802303	missense	probably benign	0.22
R4240:Vmn2r8	UTSW	5	108797503	missense	probably damaging	0.99
R4581:Vmn2r8	UTSW	5	108801704	missense	probably benign	0.03
R4744:Vmn2r8	UTSW	5	108808581	missense	probably benign	0.00
R4755:Vmn2r8	UTSW	5	108801700	missense	probably benign	0.03
R4917:Vmn2r8	UTSW	5	108797398	missense	probably damaging	1.00
R4957:Vmn2r8	UTSW	5	108799263	missense	probably benign	0.16
R5141:Vmn2r8	UTSW	5	108808706	missense	probably damaging	0.96
R5481:Vmn2r8	UTSW	5	108801770	missense	probably benign	0.09
R5571:Vmn2r8	UTSW	5	108802240	missense	probably damaging	1.00
R5624:Vmn2r8	UTSW	5	108802459	missense	probably damaging	0.99
R6003:Vmn2r8	UTSW	5	108797382	missense	probably damaging	1.00
R6243:Vmn2r8	UTSW	5	108799345	missense	probably benign	0.01
R6265:Vmn2r8	UTSW	5	108808597	missense	probably benign
R6315:Vmn2r8	UTSW	5	108801891	missense	probably benign
R6413:Vmn2r8	UTSW	5	108801723	missense	probably benign	0.09
R7120:Vmn2r8	UTSW	5	108808638	missense	possibly damaging	0.56
R7406:Vmn2r8	UTSW	5	108800576	missense	probably benign	0.00
R7409:Vmn2r8	UTSW	5	108808583	nonsense	probably null
R7489:Vmn2r8	UTSW	5	108797656	missense	possibly damaging	0.95
R7532:Vmn2r8	UTSW	5	108802240	missense	probably benign	0.22
R7534:Vmn2r8	UTSW	5	108802174	missense	possibly damaging	0.94
R7739:Vmn2r8	UTSW	5	108802177	missense	probably damaging	1.00
R8099:Vmn2r8	UTSW	5	108801834	missense	probably benign
R8711:Vmn2r8	UTSW	5	108798096	missense	possibly damaging	0.89
R8781:Vmn2r8	UTSW	5	108797731	missense	possibly damaging	0.95
R8874:Vmn2r8	UTSW	5	108808751	missense	probably damaging	1.00
R8927:Vmn2r8	UTSW	5	108802265	missense
R8928:Vmn2r8	UTSW	5	108802265	missense
R9288:Vmn2r8	UTSW	5	108802319	missense	probably benign	0.39
R9596:Vmn2r8	UTSW	5	108799330	missense	possibly damaging	0.94
R9652:Vmn2r8	UTSW	5	108803241	missense	probably benign	0.18
Z1088:Vmn2r8	UTSW	5	108801998	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGCCTTCACAATGGGAGTATC -3'
(R):5'- TGTTCCATTCCCTATGATGGTG -3'

Sequencing Primer
(F):5'- CAATGGGAGTATCCTTGTACTTCAC -3'
(R):5'- GATGGTGTTTTGTTCTATCACAAAGC -3'

Posted On

2020-07-28