Mutagenetix > Incidental Mutation

Incidental Mutation 'R5571:Vmn2r8'

435662

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r8

Ensembl Gene

ENSMUSG00000090961

Gene Name

vomeronasal 2, receptor 8

Synonyms

EG627479

MMRRC Submission

044395-MU

Accession Numbers

Essential gene?

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

Stock #

R5571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108797193-108808754 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108802240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 247 (Y247C)

Ref Sequence

ENSEMBL: ENSMUSP00000126953 (fasta)

Gene Model

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

AlphaFold

L7N472

Predicted Effect

probably damaging
Transcript: ENSMUST00000172140
AA Change: Y247C

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

SMART Domains

Protein: ENSMUSP00000126953
Gene: ENSMUSG00000090961
AA Change: Y247C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	A	7: 140,249,123	C232S	probably damaging	Het
9530053A07Rik	A	G	7: 28,156,569	D1927G	probably damaging	Het
Atad5	T	C	11: 80,111,556	V1058A	probably benign	Het
Baiap2l2	T	C	15: 79,271,583	H97R	probably damaging	Het
Bax	A	G	7: 45,461,891	S184P	probably damaging	Het
Bsph1	T	G	7: 13,450,915	M1R	probably null	Het
Cbln2	A	G	18: 86,713,148	D27G	probably benign	Het
Cntnap3	G	A	13: 64,903,758	A28V	probably damaging	Het
Col6a3	C	A	1: 90,788,216	R1641L	unknown	Het
Dhrs3	T	G	4: 144,893,564	I17S	probably benign	Het
Ep300	T	C	15: 81,643,217		probably benign	Het
Epb41	T	C	4: 131,937,406		probably benign	Het
Fat4	A	T	3: 39,010,274	E4793V	probably damaging	Het
Fbxw22	T	G	9: 109,403,088	K80N	probably damaging	Het
Fbxw24	T	C	9: 109,606,998	E322G	probably benign	Het
Fndc7	T	C	3: 108,856,408	I639V	possibly damaging	Het
Folh1	T	C	7: 86,734,120	Y473C	probably damaging	Het
Foxb2	T	A	19: 16,872,767	M292L	probably benign	Het
Gapvd1	A	G	2: 34,715,253	S41P	probably damaging	Het
Gm8298	A	T	3: 59,877,219	H371L	probably damaging	Het
Gmds	A	T	13: 31,917,721		probably null	Het
Gp6	G	T	7: 4,368,900	A302D	probably damaging	Het
Hmgcr	A	T	13: 96,666,663	M8K	probably benign	Het
Itpripl2	C	T	7: 118,489,869	R489Q	probably damaging	Het
Kmo	T	C	1: 175,647,194	V175A	possibly damaging	Het
Lce1i	C	T	3: 92,777,681	G63S	unknown	Het
Lrp1b	T	C	2: 41,408,342	Q155R	probably damaging	Het
Mdm1	T	C	10: 118,159,683	S541P	possibly damaging	Het
Mgea5	T	C	19: 45,777,006	T121A	probably benign	Het
Neto2	C	T	8: 85,640,544	D524N	probably damaging	Het
Olfr1350	T	C	7: 6,570,825	I278T	possibly damaging	Het
Olfr183	A	T	16: 59,000,206	I174L	probably benign	Het
Olfr319	T	A	11: 58,702,051	F117I	probably damaging	Het
Olfr338	A	G	2: 36,377,117	T114A	probably benign	Het
Ppp4r1	C	T	17: 65,803,861	Q21*	probably null	Het
Ryr2	T	A	13: 11,555,448	T4930S	possibly damaging	Het
Siae	G	A	9: 37,616,923	G64D	probably benign	Het
Slc14a2	T	C	18: 78,209,067	M10V	possibly damaging	Het
Ssrp1	C	G	2: 85,044,325	D496E	probably damaging	Het
Steap2	A	G	5: 5,675,912	S371P	probably damaging	Het
Taf6l	G	A	19: 8,783,930	R24W	probably damaging	Het
Tbkbp1	T	C	11: 97,148,729	Q118R	probably damaging	Het
Tln2	C	T	9: 67,334,320	G1001E	possibly damaging	Het
Tm2d3	A	G	7: 65,699,124	N184D	probably damaging	Het
Tmprss2	A	T	16: 97,590,871	W131R	probably null	Het
Ube2d2a	A	G	18: 35,770,478		probably benign	Het
Unc13d	A	G	11: 116,063,654	Y1043H	probably benign	Het
Usp34	T	A	11: 23,457,975	I2600K	probably damaging	Het
Vmn1r198	A	G	13: 22,354,998	Y218C	probably damaging	Het
Wdr59	A	T	8: 111,465,831	N699K	probably damaging	Het
Zcchc2	T	C	1: 106,023,672	V579A	probably benign	Het
Zfhx3	A	T	8: 108,955,991	Q3354L	unknown	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
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
R8245:Vmn2r8	UTSW	5	108798070	missense	probably damaging	1.00
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'- GGTGTTCAAAAGTAACAGTCCC -3'
(R):5'- CACATACTTGTCCCATGCCATG -3'

Sequencing Primer
(F):5'- TTCAAAAGTAACAGTCCCATGGAAG -3'
(R):5'- ATGCCATGGTCTCCTTGATG -3'

Posted On

2016-10-24