Mutagenetix > Incidental Mutation

Incidental Mutation 'R6413:Vmn2r8'

514808

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 #

R6413 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108797193-108808754 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108801723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 419 (E419D)

Ref Sequence

ENSEMBL: ENSMUSP00000126953 (fasta)

Gene Model

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

AlphaFold

L7N472

Predicted Effect

probably benign
Transcript: ENSMUST00000172140
AA Change: E419D

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126953
Gene: ENSMUSG00000090961
AA Change: E419D

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: 99.4%
20x: 98.1%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	A	T	4: 41,505,135	V196D	possibly damaging	Het
3110070M22Rik	C	A	13: 119,488,111		probably benign	Het
Agtpbp1	A	G	13: 59,500,020	V662A	possibly damaging	Het
Ambra1	T	G	2: 91,769,084	V183G	possibly damaging	Het
Amdhd2	A	G	17: 24,158,316	S208P	probably damaging	Het
Ankdd1a	C	T	9: 65,510,372	V133I	probably benign	Het
Ankrd35	A	G	3: 96,684,813	K805R	probably damaging	Het
Arhgap28	T	C	17: 67,875,588	Q270R	probably benign	Het
Cabp2	G	A	19: 4,085,698		probably null	Het
Ccnt1	A	G	15: 98,543,969	S473P	probably benign	Het
Cenpt	G	A	8: 105,846,341	P373S	possibly damaging	Het
Cyp3a44	T	A	5: 145,794,444	D182V	probably damaging	Het
Ddx54	A	G	5: 120,627,062	T799A	probably benign	Het
Dtna	T	A	18: 23,622,014	D464E	probably damaging	Het
E030025P04Rik	T	C	11: 109,139,599	Y154C	unknown	Het
Ephb2	C	A	4: 136,771,122	E215D	probably benign	Het
Eya4	T	C	10: 23,116,826	D445G	probably damaging	Het
Flg2	A	T	3: 93,220,376	L2198F	unknown	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Klhl22	T	C	16: 17,789,317	F496L	probably benign	Het
Numa1	A	T	7: 101,990,571		probably null	Het
Papola	T	C	12: 105,806,504		probably benign	Het
Phldb1	T	C	9: 44,696,143	E1255G	probably damaging	Het
Rgs8	A	T	1: 153,692,873	D168V	probably damaging	Het
Rlf	A	G	4: 121,147,325	V1486A	probably damaging	Het
Rpa2	G	T	4: 132,773,845	A118S	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Serpina1f	T	A	12: 103,693,694	I110F	probably damaging	Het
Serpini2	T	C	3: 75,259,614	Y112C	probably damaging	Het
Sh2b3	A	G	5: 121,828,923	Y43H	probably damaging	Het
Shank2	A	G	7: 144,410,218	E514G	probably damaging	Het
Slc44a5	T	C	3: 154,257,750	F388S	probably benign	Het
Tmem176b	T	C	6: 48,838,332	N9S	possibly damaging	Het
Trip11	T	A	12: 101,885,531	Q758L	probably benign	Het
Trrap	T	A	5: 144,784,046	I231N	possibly damaging	Het
Ttn	A	T	2: 76,900,053		probably benign	Het
Vmn2r68	T	C	7: 85,221,765	N770S	probably damaging	Het
Vmn2r73	A	T	7: 85,870,336	Y471*	probably null	Het
Wdfy4	C	A	14: 32,967,647	L2818F	probably damaging	Het
Zfhx4	A	T	3: 5,243,145	Y477F	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
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'- GTCTCCTATCAAATGTGATCCTTGTG -3'
(R):5'- TCAACCTCAATGAACAGCTTTAGC -3'

Sequencing Primer
(F):5'- CTATCAAATGTGATCCTTGTGTATGG -3'
(R):5'- CCTCAATGAACAGCTTTAGCAAAATG -3'

Posted On

2018-05-04