Mutagenetix > Incidental Mutation

Incidental Mutation 'R6944:Vmn2r96'

540808

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r96

Ensembl Gene

ENSMUSG00000091679

Gene Name

vomeronasal 2, receptor 96

Synonyms

EG433070

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R6944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18573151-18616003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18597629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 489 (F489L)

Ref Sequence

ENSEMBL: ENSMUSP00000131564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165692] [ENSMUST00000177244] [ENSMUST00000231261] [ENSMUST00000231286]

AlphaFold

E9PZU5

Predicted Effect

probably benign
Transcript: ENSMUST00000165692
AA Change: F489L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131564
Gene: ENSMUSG00000091679
AA Change: F489L

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	257	8.6e-20	PFAM
Pfam:NCD3G	317	370	3.7e-22	PFAM
Pfam:7tm_3	402	638	3.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177244
AA Change: F681L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135095
Gene: ENSMUSG00000091679
AA Change: F681L

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	245	4.2e-19	PFAM
Pfam:NCD3G	317	370	6.9e-21	PFAM
Pfam:7tm_3	400	639	3.4e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231261

Predicted Effect

probably benign
Transcript: ENSMUST00000231286
AA Change: F681L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	C	10: 82,296,222	I318R	probably benign	Het
Abcb1b	T	G	5: 8,813,693	V216G	probably damaging	Het
Abcb5	T	C	12: 118,911,530	R636G	probably benign	Het
Ago1	G	T	4: 126,460,422	F198L	possibly damaging	Het
Ankrd42	C	T	7: 92,619,547		probably null	Het
Anxa11	T	A	14: 25,874,752	F274I	probably damaging	Het
Ascc1	T	C	10: 60,013,653	L122P	probably damaging	Het
Bptf	T	C	11: 107,080,823	S953G	probably damaging	Het
Chml	T	A	1: 175,688,161	N65Y	probably damaging	Het
Clcc1	A	G	3: 108,670,968	K262E	probably damaging	Het
Clhc1	T	G	11: 29,569,346	D384E	probably damaging	Het
Cnot2	G	A	10: 116,537,223		probably benign	Het
Cntnap1	T	C	11: 101,182,904	V627A	probably damaging	Het
Col6a4	A	G	9: 106,072,171	V755A	probably damaging	Het
Cyp4f18	T	A	8: 71,989,894	I406F	probably benign	Het
Dclre1a	T	C	19: 56,545,019	E381G	possibly damaging	Het
Dnah1	A	G	14: 31,268,904	Y3153H	probably damaging	Het
Dnah8	C	A	17: 30,794,659	D3791E	probably benign	Het
Dnah9	T	C	11: 66,085,149	E1358G	possibly damaging	Het
Eef1g	G	A	19: 8,968,292	R30H	probably benign	Het
Egln3	A	T	12: 54,183,952	I181N	probably benign	Het
Entpd6	A	G	2: 150,763,599	T250A	probably damaging	Het
Epb41l5	C	T	1: 119,609,129	R344Q	probably damaging	Het
Fam20b	T	C	1: 156,687,521	D258G	probably benign	Het
Fbxw18	A	T	9: 109,702,587	D21E	probably damaging	Het
Fbxw21	T	C	9: 109,157,535	E92G	probably damaging	Het
Fzd6	T	A	15: 39,025,817	M110K	possibly damaging	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Gm9268	T	C	7: 43,047,969	F817L	possibly damaging	Het
Golgb1	C	T	16: 36,912,113	P574L	probably benign	Het
Gpr153	A	G	4: 152,279,363	E80G	probably damaging	Het
Kcnt1	T	C	2: 25,877,828		probably benign	Het
Kcnt2	T	G	1: 140,584,065	V962G	probably benign	Het
Malt1	T	C	18: 65,437,920	V109A	probably benign	Het
March7	A	G	2: 60,234,243	I288V	probably benign	Het
Mief1	C	T	15: 80,249,443	R234C	probably damaging	Het
Morc3	A	G	16: 93,870,572	S613G	probably benign	Het
Myt1	A	G	2: 181,797,594	E345G	possibly damaging	Het
Napb	T	C	2: 148,706,969	T133A	probably benign	Het
Nwd1	T	C	8: 72,653,534	V16A	possibly damaging	Het
Oas1f	G	A	5: 120,848,184	E67K	probably benign	Het
Obscn	T	C	11: 59,038,930	K5153R	probably damaging	Het
Olfr1441	G	T	19: 12,423,264	M318I	probably benign	Het
Olfr154	C	T	2: 85,663,851	M194I	probably benign	Het
Olfr212	T	C	6: 116,515,830	F18L	possibly damaging	Het
Olfr317	T	A	11: 58,732,242	S308C	possibly damaging	Het
Pdcd2	T	C	17: 15,525,370	N185S	possibly damaging	Het
Pgap1	A	T	1: 54,530,161	W349R	probably damaging	Het
Prpf39	T	A	12: 65,042,680	V64E	probably benign	Het
Ptpn13	T	A	5: 103,476,991	W54R	probably null	Het
Rbms3	G	T	9: 117,110,105	P29Q	probably damaging	Het
Rnf123	A	G	9: 108,063,623	L679P	probably benign	Het
Samd4	T	A	14: 47,016,635	D84E	possibly damaging	Het
Scarf1	T	C	11: 75,522,206	V426A	probably benign	Het
Slc12a1	A	G	2: 125,160,534	N145D	probably damaging	Het
Slc2a6	A	T	2: 27,026,064	M99K	probably damaging	Het
Slc34a2	A	T	5: 53,064,883	I306L	probably benign	Het
Slx4ip	A	G	2: 137,068,275	K397E	probably damaging	Het
Smr3a	C	T	5: 88,008,090		probably benign	Het
Spef2	T	C	15: 9,592,749	E1502G	probably damaging	Het
Sri	A	T	5: 8,063,365	T119S	probably benign	Het
Synrg	T	A	11: 84,025,086	L1085H	probably damaging	Het
Taf7	A	T	18: 37,642,857	L219H	probably damaging	Het
Tmco3	T	A	8: 13,303,729	V347E	probably damaging	Het
Tmem8b	A	T	4: 43,674,465	I250F	probably damaging	Het
Tom1l2	A	G	11: 60,248,991	V239A	probably damaging	Het
Trpm1	T	A	7: 64,243,433	M1011K	probably damaging	Het
Tspan9	A	T	6: 127,965,806	Y153N	probably benign	Het
Ttll11	T	C	2: 35,752,294	H675R	probably benign	Het
Unc50	C	T	1: 37,432,662	T131M	probably damaging	Het
Vgf	T	A	5: 137,032,352	I456N	probably damaging	Het
Vmn1r223	A	G	13: 23,249,313	I26V	unknown	Het
Vmn1r39	T	C	6: 66,805,221	M1V	probably null	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r14	T	C	5: 109,216,059	T664A	probably benign	Het
Vmn2r14	G	A	5: 109,216,274	T592I	probably benign	Het

Other mutations in Vmn2r96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Vmn2r96	APN	17	18583815	missense	probably benign	0.00
IGL00563:Vmn2r96	APN	17	18583815	missense	probably benign	0.00
IGL00769:Vmn2r96	APN	17	18583819	missense	probably benign	0.00
IGL01314:Vmn2r96	APN	17	18582964	missense	probably benign	0.00
IGL01983:Vmn2r96	APN	17	18597265	missense	probably damaging	0.99
IGL02314:Vmn2r96	APN	17	18583959	missense	probably benign	0.01
IGL02600:Vmn2r96	APN	17	18597567	missense	probably benign
IGL02672:Vmn2r96	APN	17	18598114	missense	probably benign	0.02
IGL02750:Vmn2r96	APN	17	18582589	missense	probably benign	0.01
IGL03068:Vmn2r96	APN	17	18582875	missense	probably benign	0.00
IGL03411:Vmn2r96	APN	17	18586372	missense	possibly damaging	0.88
R0316:Vmn2r96	UTSW	17	18582565	missense	probably damaging	1.00
R0502:Vmn2r96	UTSW	17	18584000	missense	probably benign
R0580:Vmn2r96	UTSW	17	18582638	missense	probably damaging	1.00
R0652:Vmn2r96	UTSW	17	18597568	missense	probably benign	0.05
R0789:Vmn2r96	UTSW	17	18582476	missense	possibly damaging	0.81
R1462:Vmn2r96	UTSW	17	18597398	missense	possibly damaging	0.94
R1462:Vmn2r96	UTSW	17	18597398	missense	possibly damaging	0.94
R1660:Vmn2r96	UTSW	17	18597726	missense	probably benign	0.00
R1755:Vmn2r96	UTSW	17	18582653	missense	possibly damaging	0.50
R1843:Vmn2r96	UTSW	17	18597921	missense	probably benign	0.14
R1943:Vmn2r96	UTSW	17	18586402	missense	probably benign	0.09
R1993:Vmn2r96	UTSW	17	18583876	missense	probably damaging	1.00
R2018:Vmn2r96	UTSW	17	18584001	missense	probably benign
R2405:Vmn2r96	UTSW	17	18597840	missense	probably damaging	0.96
R3977:Vmn2r96	UTSW	17	18597679	missense	probably damaging	1.00
R3979:Vmn2r96	UTSW	17	18597679	missense	probably damaging	1.00
R4059:Vmn2r96	UTSW	17	18598077	missense	probably benign	0.20
R4693:Vmn2r96	UTSW	17	18583008	missense	probably benign	0.03
R4709:Vmn2r96	UTSW	17	18582826	missense	probably benign	0.36
R4776:Vmn2r96	UTSW	17	18597508	missense	probably damaging	1.00
R4882:Vmn2r96	UTSW	17	18597604	missense	probably damaging	1.00
R4920:Vmn2r96	UTSW	17	18582656	missense	probably benign	0.07
R5143:Vmn2r96	UTSW	17	18583858	missense	possibly damaging	0.65
R5301:Vmn2r96	UTSW	17	18597688	missense	probably damaging	0.98
R5507:Vmn2r96	UTSW	17	18597829	missense	probably damaging	1.00
R6151:Vmn2r96	UTSW	17	18583959	missense	probably benign	0.01
R6181:Vmn2r96	UTSW	17	18583864	missense	probably benign
R6339:Vmn2r96	UTSW	17	18583862	missense	possibly damaging	0.84
R6404:Vmn2r96	UTSW	17	18597531	missense	probably damaging	1.00
R6452:Vmn2r96	UTSW	17	18583855	missense	probably benign	0.07
R6749:Vmn2r96	UTSW	17	18598090	missense	probably damaging	0.99
R6813:Vmn2r96	UTSW	17	18581854	missense	probably benign	0.04
R6851:Vmn2r96	UTSW	17	18582538	missense	possibly damaging	0.95
R6949:Vmn2r96	UTSW	17	18597838	missense	probably damaging	1.00
R6962:Vmn2r96	UTSW	17	18598021	missense	probably damaging	0.99
R6990:Vmn2r96	UTSW	17	18583820	missense	probably benign
R7149:Vmn2r96	UTSW	17	18597727	missense	possibly damaging	0.89
R7346:Vmn2r96	UTSW	17	18582767	missense	probably benign	0.15
R7385:Vmn2r96	UTSW	17	18583040	missense	probably damaging	1.00
R7442:Vmn2r96	UTSW	17	18573400	missense	probably benign	0.02
R7509:Vmn2r96	UTSW	17	18582733	missense	probably benign	0.02
R7652:Vmn2r96	UTSW	17	18573570	missense	probably benign
R7659:Vmn2r96	UTSW	17	18573487	missense	probably benign	0.00
R7753:Vmn2r96	UTSW	17	18586401	missense	possibly damaging	0.46
R7855:Vmn2r96	UTSW	17	18597868	missense	possibly damaging	0.59
R8166:Vmn2r96	UTSW	17	18582482	missense	probably damaging	1.00
R8260:Vmn2r96	UTSW	17	18583981	missense	probably benign	0.04
R8323:Vmn2r96	UTSW	17	18582761	missense	probably damaging	0.99
R8787:Vmn2r96	UTSW	17	18597988	missense	probably damaging	1.00
R8837:Vmn2r96	UTSW	17	18582626	missense	probably benign
R8933:Vmn2r96	UTSW	17	18583979	missense	probably benign	0.11
R9306:Vmn2r96	UTSW	17	18582964	missense	probably benign	0.00
R9481:Vmn2r96	UTSW	17	18573359	start gained	probably benign
R9626:Vmn2r96	UTSW	17	18573496	missense	probably benign	0.14
R9629:Vmn2r96	UTSW	17	18582995	missense	probably benign	0.15
Z1088:Vmn2r96	UTSW	17	18597366	missense	possibly damaging	0.86
Z1177:Vmn2r96	UTSW	17	18598114	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGACACTCCTATTGTCAAGGC -3'
(R):5'- ACAGATGAGCCCTTGTTGCAC -3'

Sequencing Primer
(F):5'- GGCAAATAATCGAGCTCTGAGTTAC -3'
(R):5'- GAGCCCTTGTTGCACAAAATG -3'

Posted On

2018-11-28