Mutagenetix > Incidental Mutation

Incidental Mutation 'R4152:Vmn2r18'

314943

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r18

Ensembl Gene

ENSMUSG00000091794

Gene Name

vomeronasal 2, receptor 18

Synonyms

EG632671

MMRRC Submission

040996-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151485126-151529232 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151485730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 588 (Q588L)

Ref Sequence

ENSEMBL: ENSMUSP00000127506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165928]

AlphaFold

A0A3B2WB67

Predicted Effect

probably damaging
Transcript: ENSMUST00000165928
AA Change: Q588L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127506
Gene: ENSMUSG00000091794
AA Change: Q588L

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	403	5.7e-39	PFAM
Pfam:NCD3G	446	499	5.5e-20	PFAM
Pfam:7tm_3	531	767	5e-53	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,183,752 (GRCm39)	M31R	possibly damaging	Het
Akap6	A	C	12: 53,187,190 (GRCm39)	S1535R	probably benign	Het
Ap3b2	A	G	7: 81,127,765 (GRCm39)	I137T	probably damaging	Het
Cdc16	A	G	8: 13,812,857 (GRCm39)	S36G	probably damaging	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Col4a1	T	C	8: 11,267,227 (GRCm39)		probably null	Het
Crem	G	T	18: 3,288,055 (GRCm39)	N179K	probably damaging	Het
Fam78b	T	C	1: 166,906,369 (GRCm39)	M176T	probably benign	Het
Fcgbpl1	T	A	7: 27,856,322 (GRCm39)	H2036Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,413 (GRCm39)		probably null	Het
Gm6483	T	C	8: 19,737,926 (GRCm39)		noncoding transcript	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klk1b16	T	C	7: 43,789,973 (GRCm39)	F81S	probably benign	Het
Lpgat1	C	A	1: 191,451,600 (GRCm39)	Y36*	probably null	Het
Mavs	A	G	2: 131,088,528 (GRCm39)	D444G	probably benign	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nemp2	A	G	1: 52,680,210 (GRCm39)	S145G	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Or7g20	T	A	9: 18,946,816 (GRCm39)	Y132*	probably null	Het
Or8g52	A	C	9: 39,631,296 (GRCm39)	M258L	probably benign	Het
Pds5a	A	T	5: 65,823,514 (GRCm39)	C92*	probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Phf3	C	T	1: 30,870,539 (GRCm39)	V116I	probably benign	Het
Prl8a2	T	C	13: 27,534,985 (GRCm39)	Y86H	possibly damaging	Het
Rab4b	T	C	7: 26,875,551 (GRCm39)		probably benign	Het
Rsad1	T	C	11: 94,439,449 (GRCm39)		probably benign	Het
Sim1	G	A	10: 50,859,950 (GRCm39)	C604Y	probably damaging	Het
Slc5a3	T	A	16: 91,874,696 (GRCm39)	L251*	probably null	Het
Slit3	A	G	11: 35,589,147 (GRCm39)	N1234S	probably damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Snx31	T	C	15: 36,525,785 (GRCm39)	N305D	probably benign	Het
St14	T	C	9: 31,001,802 (GRCm39)	I768V	probably benign	Het
Tep1	G	A	14: 51,075,051 (GRCm39)	H1755Y	possibly damaging	Het
Tlr6	A	C	5: 65,110,555 (GRCm39)	F784C	probably damaging	Het
Tmem132a	A	G	19: 10,836,427 (GRCm39)	V701A	probably benign	Het
Tspan15	A	T	10: 62,025,621 (GRCm39)	M197K	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vegfb	T	C	19: 6,963,446 (GRCm39)	Y106C	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	Het
Vmn2r66	T	C	7: 84,654,800 (GRCm39)	D503G	probably benign	Het
Zc3h15	T	C	2: 83,488,913 (GRCm39)	V161A	probably benign	Het

Other mutations in Vmn2r18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Vmn2r18	APN	5	151,496,296 (GRCm39)	missense	probably damaging	0.99
IGL01564:Vmn2r18	APN	5	151,508,633 (GRCm39)	missense	possibly damaging	0.69
IGL01602:Vmn2r18	APN	5	151,510,106 (GRCm39)	missense	possibly damaging	0.64
IGL01605:Vmn2r18	APN	5	151,510,106 (GRCm39)	missense	possibly damaging	0.64
IGL01619:Vmn2r18	APN	5	151,510,229 (GRCm39)	missense	probably benign	0.25
IGL02177:Vmn2r18	APN	5	151,510,274 (GRCm39)	missense	possibly damaging	0.76
IGL02682:Vmn2r18	APN	5	151,508,102 (GRCm39)	missense	probably damaging	0.99
IGL02751:Vmn2r18	APN	5	151,508,072 (GRCm39)	missense	probably benign	0.09
IGL02977:Vmn2r18	APN	5	151,510,149 (GRCm39)	missense	probably damaging	1.00
R0089:Vmn2r18	UTSW	5	151,508,269 (GRCm39)	missense	probably benign	0.00
R0282:Vmn2r18	UTSW	5	151,508,668 (GRCm39)	missense	probably benign	0.02
R0529:Vmn2r18	UTSW	5	151,485,988 (GRCm39)	missense	probably damaging	0.99
R0812:Vmn2r18	UTSW	5	151,496,395 (GRCm39)	splice site	probably benign
R1467:Vmn2r18	UTSW	5	151,510,301 (GRCm39)	missense	possibly damaging	0.48
R1467:Vmn2r18	UTSW	5	151,510,301 (GRCm39)	missense	possibly damaging	0.48
R1506:Vmn2r18	UTSW	5	151,499,099 (GRCm39)	splice site	probably null
R1562:Vmn2r18	UTSW	5	151,510,301 (GRCm39)	missense	probably benign	0.12
R1637:Vmn2r18	UTSW	5	151,508,222 (GRCm39)	missense	probably damaging	1.00
R1651:Vmn2r18	UTSW	5	151,485,464 (GRCm39)	missense	probably damaging	1.00
R1883:Vmn2r18	UTSW	5	151,499,190 (GRCm39)	missense	probably benign	0.37
R1884:Vmn2r18	UTSW	5	151,499,190 (GRCm39)	missense	probably benign	0.37
R1914:Vmn2r18	UTSW	5	151,499,286 (GRCm39)	missense	probably benign	0.02
R2051:Vmn2r18	UTSW	5	151,486,016 (GRCm39)	missense	possibly damaging	0.90
R2056:Vmn2r18	UTSW	5	151,508,160 (GRCm39)	missense	probably damaging	0.98
R2252:Vmn2r18	UTSW	5	151,508,441 (GRCm39)	missense	possibly damaging	0.59
R2265:Vmn2r18	UTSW	5	151,510,127 (GRCm39)	missense	probably damaging	1.00
R2266:Vmn2r18	UTSW	5	151,510,127 (GRCm39)	missense	probably damaging	1.00
R2267:Vmn2r18	UTSW	5	151,510,127 (GRCm39)	missense	probably damaging	1.00
R2843:Vmn2r18	UTSW	5	151,485,749 (GRCm39)	missense	probably damaging	1.00
R3023:Vmn2r18	UTSW	5	151,485,148 (GRCm39)	missense	probably benign	0.13
R3694:Vmn2r18	UTSW	5	151,508,033 (GRCm39)	missense	probably benign	0.00
R3763:Vmn2r18	UTSW	5	151,508,644 (GRCm39)	missense	probably damaging	1.00
R3816:Vmn2r18	UTSW	5	151,485,148 (GRCm39)	missense	probably benign	0.13
R4007:Vmn2r18	UTSW	5	151,508,711 (GRCm39)	missense	probably damaging	0.99
R4308:Vmn2r18	UTSW	5	151,508,268 (GRCm39)	nonsense	probably null
R4362:Vmn2r18	UTSW	5	151,496,368 (GRCm39)	missense	probably damaging	1.00
R4618:Vmn2r18	UTSW	5	151,508,424 (GRCm39)	missense	possibly damaging	0.64
R4716:Vmn2r18	UTSW	5	151,485,602 (GRCm39)	missense	possibly damaging	0.87
R4817:Vmn2r18	UTSW	5	151,508,897 (GRCm39)	splice site	probably null
R5111:Vmn2r18	UTSW	5	151,485,913 (GRCm39)	missense	possibly damaging	0.85
R5692:Vmn2r18	UTSW	5	151,485,724 (GRCm39)	missense	possibly damaging	0.65
R6115:Vmn2r18	UTSW	5	151,508,462 (GRCm39)	missense	possibly damaging	0.81
R6244:Vmn2r18	UTSW	5	151,508,116 (GRCm39)	missense	probably damaging	1.00
R6595:Vmn2r18	UTSW	5	151,485,889 (GRCm39)	missense	probably damaging	1.00
R6997:Vmn2r18	UTSW	5	151,485,338 (GRCm39)	missense	possibly damaging	0.95
R7227:Vmn2r18	UTSW	5	151,496,264 (GRCm39)	missense	probably damaging	1.00
R7349:Vmn2r18	UTSW	5	151,485,682 (GRCm39)	nonsense	probably null
R7506:Vmn2r18	UTSW	5	151,508,485 (GRCm39)	missense	possibly damaging	0.51
R7590:Vmn2r18	UTSW	5	151,485,194 (GRCm39)	missense	probably damaging	1.00
R7721:Vmn2r18	UTSW	5	151,510,158 (GRCm39)	missense	possibly damaging	0.53
R7877:Vmn2r18	UTSW	5	151,508,437 (GRCm39)	missense	probably damaging	1.00
R7882:Vmn2r18	UTSW	5	151,485,329 (GRCm39)	missense	probably damaging	1.00
R7984:Vmn2r18	UTSW	5	151,485,526 (GRCm39)	missense	probably damaging	1.00
R8295:Vmn2r18	UTSW	5	151,508,621 (GRCm39)	missense	probably damaging	0.97
R8353:Vmn2r18	UTSW	5	151,485,373 (GRCm39)	missense	probably damaging	1.00
R8453:Vmn2r18	UTSW	5	151,485,373 (GRCm39)	missense	probably damaging	1.00
R8670:Vmn2r18	UTSW	5	151,485,854 (GRCm39)	missense	probably damaging	1.00
R8725:Vmn2r18	UTSW	5	151,508,462 (GRCm39)	missense	probably damaging	0.99
R8727:Vmn2r18	UTSW	5	151,508,462 (GRCm39)	missense	probably damaging	0.99
R8895:Vmn2r18	UTSW	5	151,485,140 (GRCm39)	missense	possibly damaging	0.46
R9286:Vmn2r18	UTSW	5	151,499,175 (GRCm39)	missense	probably benign	0.00
R9339:Vmn2r18	UTSW	5	151,485,132 (GRCm39)	missense	probably damaging	0.99
Z1176:Vmn2r18	UTSW	5	151,508,498 (GRCm39)	missense	probably damaging	0.99
Z1187:Vmn2r18	UTSW	5	151,508,497 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGATGCCAGAGGTAATAAGTTG -3'
(R):5'- TTGAGGATCCTCTGGGCATG -3'

Sequencing Primer
(F):5'- TGCCAGAGGTAATAAGTTGGATCAG -3'
(R):5'- CATGTCTCTGGCCTGCATGG -3'

Posted On

2015-05-14