Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Vmn2r75'

169264

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r75

Ensembl Gene

ENSMUSG00000090436

Gene Name

vomeronasal 2, receptor 75

Synonyms

EG546981

MMRRC Submission

040867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86148042-86171724 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86165642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 214 (D214E)

Ref Sequence

ENSEMBL: ENSMUSP00000126973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167830]

AlphaFold

G5E8Z7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167830
AA Change: D214E

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126973
Gene: ENSMUSG00000090436
AA Change: D214E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	80	466	2.8e-31	PFAM
Pfam:NCD3G	510	562	4.6e-20	PFAM
Pfam:7tm_3	593	829	7.7e-51	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,513,347	S533R	probably benign	Het
Amph	C	T	13: 19,104,291	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,981,180	C845R	probably damaging	Het
Calml4	A	G	9: 62,871,340	K12E	probably benign	Het
Chrd	C	T	16: 20,737,533	R615W	probably damaging	Het
Chst15	T	A	7: 132,269,069	K246*	probably null	Het
Cmtr2	G	A	8: 110,221,603	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,454,324	C186*	probably null	Het
Cyp3a13	G	T	5: 137,911,630		probably null	Het
Dcaf17	A	T	2: 71,081,988	I320F	probably damaging	Het
Ddx10	T	C	9: 53,233,997	I227V	possibly damaging	Het
Dlc1	G	T	8: 36,938,148	N162K	probably benign	Het
Dnhd1	G	A	7: 105,668,463	R455H	probably benign	Het
Drg2	G	T	11: 60,464,853	A306S	probably benign	Het
Dsg1a	A	T	18: 20,332,019	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,716,424	V353A	probably damaging	Het
Emilin2	T	C	17: 71,310,761	S34G	probably benign	Het
Enpp2	C	A	15: 54,839,514	W862L	probably damaging	Het
Exoc2	T	C	13: 30,935,502	I139V	probably benign	Het
Fhad1	C	T	4: 141,964,625	R400H	probably benign	Het
Fv1	C	T	4: 147,870,138	T387M	probably damaging	Het
Gatad1	T	A	5: 3,643,701	D156V	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm4799	G	A	10: 82,954,635		noncoding transcript	Het
Hadha	A	G	5: 30,128,806	F405S	probably benign	Het
Ifit3	T	C	19: 34,588,251	V399A	probably benign	Het
Il1rapl1	G	T	X: 87,304,863	Y150*	probably null	Het
Kirrel	T	C	3: 87,090,472	E248G	probably benign	Het
Krt72	C	A	15: 101,778,334	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,356,832	G309D	probably damaging	Het
Mc3r	T	G	2: 172,249,380	I174S	probably benign	Het
Me3	A	G	7: 89,633,065	D52G	probably benign	Het
Med12l	T	C	3: 59,260,835		probably null	Het
Mgat5	G	A	1: 127,397,641		probably null	Het
Mgea5	T	C	19: 45,778,640	D99G	probably null	Het
Mphosph10	A	T	7: 64,389,504	F239L	probably damaging	Het
Mrps7	T	C	11: 115,604,197	S13P	probably benign	Het
Nexn	T	C	3: 152,237,686	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,156,059	H1156Y	probably damaging	Het
Nostrin	A	G	2: 69,158,785	E120G	probably damaging	Het
Nsun2	A	G	13: 69,631,587	E624G	probably damaging	Het
Olfr1189	G	A	2: 88,592,148	V115I	possibly damaging	Het
Olfr495	A	C	7: 108,396,082	K321Q	probably benign	Het
Olfr503	G	A	7: 108,544,575	V15I	probably benign	Het
Olfr730	A	G	14: 50,187,082	I45T	probably damaging	Het
Phldb2	T	C	16: 45,777,783	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,844,070		probably null	Het
Pikfyve	T	A	1: 65,265,284	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,975,521	F393L	probably benign	Het
Plekhg1	C	A	10: 3,957,361	D759E	probably benign	Het
Plekhm1	A	G	11: 103,387,062	S403P	probably benign	Het
Pop1	T	C	15: 34,510,357	F432L	probably benign	Het
Ptpn13	T	C	5: 103,516,364	I406T	probably benign	Het
Ptpn5	G	T	7: 47,089,875	D185E	probably benign	Het
Rad50	G	T	11: 53,688,151	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,700,163	F613L	probably benign	Het
Sec16a	T	A	2: 26,440,045	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,555,576		probably null	Het
Slc22a3	G	A	17: 12,507,104	T74I	probably benign	Het
Slc23a4	A	G	6: 34,955,122	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,638,562	D869G	possibly damaging	Het
Slc5a11	T	A	7: 123,260,508	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,684,048	A470S	probably benign	Het
Slfn8	A	G	11: 83,003,180	S878P	probably damaging	Het
Smchd1	A	G	17: 71,365,094	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,292,699	L179P	probably damaging	Het
Tbx2	A	G	11: 85,834,796	D191G	probably damaging	Het
Tenm3	A	G	8: 48,343,316	Y485H	probably damaging	Het
Trim12c	T	A	7: 104,340,888		probably benign	Het
Trpc6	A	G	9: 8,610,169	T213A	probably damaging	Het
Upp1	T	A	11: 9,134,708		probably null	Het
Vmn1r46	A	T	6: 89,976,216	I16L	probably benign	Het
Vmn2r95	T	A	17: 18,439,856	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,362,259	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399	K232N	possibly damaging	Het
Zfp280b	T	C	10: 76,039,769	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,235,799	D38G	probably damaging	Het

Other mutations in Vmn2r75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Vmn2r75	APN	7	86148032	unclassified	probably benign
IGL01287:Vmn2r75	APN	7	86148593	missense	probably damaging	0.97
IGL01318:Vmn2r75	APN	7	86165566	missense	probably benign	0.06
IGL01331:Vmn2r75	APN	7	86171662	nonsense	probably null
IGL01406:Vmn2r75	APN	7	86163292	splice site	probably benign
IGL01615:Vmn2r75	APN	7	86148473	missense	probably benign	0.03
IGL01657:Vmn2r75	APN	7	86164247	missense	probably damaging	1.00
IGL02237:Vmn2r75	APN	7	86165578	missense	possibly damaging	0.88
IGL02275:Vmn2r75	APN	7	86165140	missense	probably benign	0.04
IGL02307:Vmn2r75	APN	7	86165766	missense	probably benign	0.00
IGL03136:Vmn2r75	APN	7	86148703	missense	possibly damaging	0.89
IGL03160:Vmn2r75	APN	7	86148436	missense	probably damaging	1.00
IGL03244:Vmn2r75	APN	7	86171725	unclassified	probably benign
PIT4449001:Vmn2r75	UTSW	7	86165583	missense	probably damaging	1.00
R0049:Vmn2r75	UTSW	7	86148101	nonsense	probably null
R0049:Vmn2r75	UTSW	7	86148101	nonsense	probably null
R0083:Vmn2r75	UTSW	7	86165658	missense	probably benign	0.00
R0108:Vmn2r75	UTSW	7	86165658	missense	probably benign	0.00
R0276:Vmn2r75	UTSW	7	86148307	missense	probably benign	0.01
R0320:Vmn2r75	UTSW	7	86165080	missense	probably benign	0.36
R0471:Vmn2r75	UTSW	7	86165513	missense	probably benign	0.01
R0562:Vmn2r75	UTSW	7	86148241	nonsense	probably null
R0631:Vmn2r75	UTSW	7	86163270	missense	probably null	1.00
R0661:Vmn2r75	UTSW	7	86165658	missense	probably benign	0.00
R0811:Vmn2r75	UTSW	7	86165367	missense	probably benign	0.38
R0812:Vmn2r75	UTSW	7	86165367	missense	probably benign	0.38
R0891:Vmn2r75	UTSW	7	86164268	missense	possibly damaging	0.81
R1340:Vmn2r75	UTSW	7	86148590	missense	probably damaging	0.98
R1760:Vmn2r75	UTSW	7	86148811	missense	probably damaging	1.00
R1970:Vmn2r75	UTSW	7	86148262	missense	probably damaging	1.00
R2060:Vmn2r75	UTSW	7	86165164	missense	probably benign	0.00
R2292:Vmn2r75	UTSW	7	86148936	missense	probably damaging	1.00
R3688:Vmn2r75	UTSW	7	86148421	missense	probably damaging	0.99
R3892:Vmn2r75	UTSW	7	86164286	missense	probably null	1.00
R4532:Vmn2r75	UTSW	7	86148141	nonsense	probably null
R4583:Vmn2r75	UTSW	7	86164082	missense	possibly damaging	0.81
R4592:Vmn2r75	UTSW	7	86166286	missense	probably benign	0.00
R4792:Vmn2r75	UTSW	7	86163170	missense	possibly damaging	0.46
R4859:Vmn2r75	UTSW	7	86148403	missense	probably benign	0.35
R4896:Vmn2r75	UTSW	7	86171579	missense	probably benign	0.01
R4943:Vmn2r75	UTSW	7	86165497	missense	probably damaging	1.00
R4992:Vmn2r75	UTSW	7	86166167	critical splice donor site	probably null
R5048:Vmn2r75	UTSW	7	86165527	missense	possibly damaging	0.66
R5063:Vmn2r75	UTSW	7	86164164	missense	probably benign
R5156:Vmn2r75	UTSW	7	86164228	missense	possibly damaging	0.51
R5243:Vmn2r75	UTSW	7	86164239	missense	probably damaging	1.00
R5277:Vmn2r75	UTSW	7	86166292	missense	probably benign
R5574:Vmn2r75	UTSW	7	86166302	missense	probably benign	0.22
R5622:Vmn2r75	UTSW	7	86148494	missense	probably benign	0.15
R5680:Vmn2r75	UTSW	7	86171571	missense	probably benign	0.10
R5884:Vmn2r75	UTSW	7	86165370	missense	probably benign
R6021:Vmn2r75	UTSW	7	86171612	missense	probably benign	0.01
R6217:Vmn2r75	UTSW	7	86166167	critical splice donor site	probably benign
R6242:Vmn2r75	UTSW	7	86165384	missense	probably damaging	1.00
R6299:Vmn2r75	UTSW	7	86165274	missense	probably benign	0.12
R6441:Vmn2r75	UTSW	7	86171576	missense	probably damaging	0.99
R6495:Vmn2r75	UTSW	7	86164079	missense	probably benign	0.00
R6553:Vmn2r75	UTSW	7	86164245	missense	probably benign	0.28
R6670:Vmn2r75	UTSW	7	86148436	missense	probably damaging	1.00
R7078:Vmn2r75	UTSW	7	86166360	missense	probably damaging	1.00
R7164:Vmn2r75	UTSW	7	86165384	missense	probably damaging	1.00
R8411:Vmn2r75	UTSW	7	86148514	missense	probably damaging	1.00
R8507:Vmn2r75	UTSW	7	86148477	nonsense	probably null
R8559:Vmn2r75	UTSW	7	86166272	missense	possibly damaging	0.65
R8677:Vmn2r75	UTSW	7	86165202	missense	possibly damaging	0.86
R8708:Vmn2r75	UTSW	7	86163268	missense	probably damaging	0.99
R8778:Vmn2r75	UTSW	7	86164289	missense	probably benign	0.40
R8968:Vmn2r75	UTSW	7	86171557	nonsense	probably null
R9145:Vmn2r75	UTSW	7	86164239	missense	probably damaging	1.00
R9316:Vmn2r75	UTSW	7	86148105	missense	possibly damaging	0.63
R9363:Vmn2r75	UTSW	7	86166215	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACCCAGATTCTCCAAATGCCTTCAG -3'
(R):5'- GCATTGATACACTTTGCTCAAGCACAC -3'

Sequencing Primer
(F):5'- GGGAGAGTCTTTGTCTCCATAAAC -3'
(R):5'- TGCTCAAGCACACTCTGATG -3'

Posted On

2014-04-13