Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Vmn2r88'

232834

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r88

Ensembl Gene

ENSMUSG00000000606

Gene Name

vomeronasal 2, receptor 88

Synonyms

V2r3, V2r13

MMRRC Submission

040117-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R2113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51410819-51419527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51418194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 621 (L621P)

Ref Sequence

ENSEMBL: ENSMUSP00000154310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022438] [ENSMUST00000159674] [ENSMUST00000162998] [ENSMUST00000228139]

AlphaFold

L7N1W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022438
AA Change: L629P

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

SMART Domains

Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: L629P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ANF_receptor	76	457	8.3e-27	PFAM
Pfam:NCD3G	516	570	1.2e-18	PFAM
Pfam:7tm_3	603	838	1.9e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159674
AA Change: L620P

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

SMART Domains

Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: L620P

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	30	408	3.2e-30	PFAM
Pfam:NCD3G	463	516	1.2e-19	PFAM
Pfam:7tm_3	546	785	3.7e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161565

Predicted Effect

probably benign
Transcript: ENSMUST00000162998

SMART Domains

Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399

Domain	Start	End	E-Value	Type
Pfam:Takusan	35	115	2.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163019

SMART Domains

Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	52	399	3.7e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000228139
AA Change: L621P

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,268,772	V549A	probably benign	Het
Abcd4	C	A	12: 84,609,016	G295*	probably null	Het
Acad9	T	C	3: 36,074,376	Y129H	probably damaging	Het
Actn4	C	T	7: 28,898,124	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,481,115	N300K	probably damaging	Het
Adh5	A	G	3: 138,451,484	I269V	probably benign	Het
Afap1l2	G	A	19: 56,913,389	A842V	possibly damaging	Het
AI429214	A	T	8: 36,994,000	K101*	probably null	Het
Alg10b	T	A	15: 90,225,657	W58R	probably damaging	Het
Alpk2	C	T	18: 65,305,683	E1347K	probably benign	Het
Amotl2	G	T	9: 102,724,723	E389*	probably null	Het
Ap5m1	G	A	14: 49,086,248	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,229,214	S48R	probably damaging	Het
Asb1	T	C	1: 91,544,228	L34P	probably damaging	Het
Atg14	C	T	14: 47,551,324	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,441,284	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,755,616	Q1217*	probably null	Het
Bsn	A	T	9: 108,114,886	H1222Q	probably benign	Het
Catsper4	A	T	4: 134,218,241	V169E	probably damaging	Het
Cbx4	C	T	11: 119,081,892	G219E	probably damaging	Het
Ccdc136	C	T	6: 29,413,032	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,838,470	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,679,102	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,068,155	V272A	probably benign	Het
Cgn	A	T	3: 94,779,806	V62D	probably damaging	Het
Ckap4	T	G	10: 84,533,523	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,169,824		probably null	Het
Clmn	A	T	12: 104,780,808	S827T	probably benign	Het
Cntn4	T	C	6: 106,489,697	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,188,365	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,274,415	Q329R	probably benign	Het
Col1a1	T	A	11: 94,948,362	S979T	unknown	Het
Crat	T	A	2: 30,402,642	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,330,264	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,617,616	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,703,280		probably null	Het
Dicer1	A	T	12: 104,713,214	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,766,141	I1001V	probably damaging	Het
Dnase2a	T	A	8: 84,910,871	C301S	probably damaging	Het
Dock10	T	A	1: 80,606,563	D142V	probably damaging	Het
Dpp8	G	A	9: 65,063,868	C590Y	probably benign	Het
Dst	T	A	1: 34,275,236	M6707K	probably damaging	Het
Duox1	T	C	2: 122,337,254	V1006A	probably benign	Het
Dync1h1	T	C	12: 110,629,986	S1623P	probably damaging	Het
Ehmt1	A	T	2: 24,804,003	D1011E	probably damaging	Het
Epc2	T	A	2: 49,532,223	D376E	probably benign	Het
Eps8	C	A	6: 137,537,635		probably null	Het
F11	T	C	8: 45,246,832	T406A	probably benign	Het
Fat3	T	G	9: 15,999,786	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,959,105	R47S	probably benign	Het
Fbxo28	A	T	1: 182,329,925	V109E	probably damaging	Het
Fn1	A	T	1: 71,626,164	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,643,036	D9G	probably damaging	Het
Frem2	G	A	3: 53,652,922	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,781,178	T185N	probably damaging	Het
Glo1	A	T	17: 30,604,040	Y49*	probably null	Het
Gtsf2	T	C	15: 103,439,673	M137V	probably benign	Het
Gzmk	C	T	13: 113,173,955	G110S	probably benign	Het
Hdac9	G	T	12: 34,389,332	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,733,269	T456I	possibly damaging	Het
Ino80	T	A	2: 119,454,084	H172L	probably damaging	Het
Itgb8	A	C	12: 119,190,612	L230R	probably damaging	Het
Klf9	C	T	19: 23,164,688	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,583,387	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,135,658	F67L	unknown	Het
Maml3	T	A	3: 51,690,656	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,615,847		probably null	Het
Mettl3	A	G	14: 52,294,984	*104Q	probably null	Het
Msrb3	T	A	10: 120,852,080	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,220,076	T1562A	probably damaging	Het
Nat14	T	C	7: 4,924,039	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,625,406	T2685A	probably damaging	Het
Nek1	A	G	8: 61,016,293	D128G	probably damaging	Het
Nfam1	T	A	15: 83,015,001	K155*	probably null	Het
Noc4l	A	T	5: 110,650,559	M255K	possibly damaging	Het
Nolc1	CAG	CAGGAG	19: 46,081,359		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,081,361		probably benign	Het
Nprl2	T	C	9: 107,545,312	S334P	probably benign	Het
Nsrp1	A	G	11: 77,046,570	S267P	probably benign	Het
Ntn4	A	T	10: 93,644,839	M142L	probably damaging	Het
Nup188	T	A	2: 30,304,101	C139*	probably null	Het
Nup210l	A	T	3: 90,190,974	N1411I	possibly damaging	Het
Olfr1510	A	G	14: 52,410,296	L192P	probably damaging	Het
Olfr994	T	G	2: 85,430,086	T248P	probably damaging	Het
Pard3	A	T	8: 127,388,537	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,671,556	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,115,071	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,818,984	D917V	probably damaging	Het
Plekhg4	T	A	8: 105,379,434	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 101,077,309	R189H	probably benign	Het
Ptpn18	T	A	1: 34,471,661	S235R	probably damaging	Het
Rabep2	A	G	7: 126,445,288		probably null	Het
Rbp3	T	G	14: 33,956,057	I654S	probably benign	Het
Rimbp3	T	C	16: 17,209,675	L321P	probably benign	Het
Rims2	T	A	15: 39,511,326	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,483,021	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,424,103		probably null	Het
Scn7a	C	T	2: 66,675,968	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,337,811	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,013,105	M1185K	probably damaging	Het
Slain1	C	A	14: 103,650,846	D67E	possibly damaging	Het
Snx33	T	C	9: 56,926,440	D115G	probably benign	Het
Sowaha	G	A	11: 53,478,962	R316C	probably damaging	Het
Spata17	A	T	1: 187,097,911	F309I	possibly damaging	Het
Spata48	G	A	11: 11,490,293		probably null	Het
Ssrp1	G	T	2: 85,043,006		probably null	Het
St6gal1	C	G	16: 23,328,417	T225S	probably damaging	Het
Sulf1	C	G	1: 12,848,174	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,153,086	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,797,044	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,993,322	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,872	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,657,936	I222N	probably damaging	Het
Trrap	T	A	5: 144,844,211	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,712,610	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,235,536	T100S	probably damaging	Het
Uxs1	A	G	1: 43,771,773	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,187,630	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r7	A	G	3: 64,691,604	S511P	possibly damaging	Het
Vps45	A	T	3: 96,047,053	M174K	probably benign	Het
Wdr72	A	T	9: 74,145,172	M162L	probably benign	Het
Wdr81	T	A	11: 75,453,635	M269L	probably benign	Het
Zfp53	A	G	17: 21,508,451	T249A	probably benign	Het
Zfp758	T	C	17: 22,361,645	S22P	probably benign	Het
Zfp780b	T	C	7: 27,963,873	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,518,693	Y45N	probably damaging	Het

Other mutations in Vmn2r88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r88	APN	14	51413125	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51413060	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51413256	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51416802	missense	possibly damaging	0.59
IGL02308:Vmn2r88	APN	14	51417980	missense	possibly damaging	0.96
IGL02481:Vmn2r88	APN	14	51414154	missense	probably benign
IGL02483:Vmn2r88	APN	14	51414154	missense	probably benign
IGL03241:Vmn2r88	APN	14	51418373	missense	probably benign	0.03
R0052:Vmn2r88	UTSW	14	51418700	missense	possibly damaging	0.88
R0070:Vmn2r88	UTSW	14	51414140	missense	probably benign	0.08
R0799:Vmn2r88	UTSW	14	51414502	missense	possibly damaging	0.61
R0906:Vmn2r88	UTSW	14	51418209	missense	probably damaging	1.00
R1322:Vmn2r88	UTSW	14	51414108	missense	probably damaging	1.00
R1352:Vmn2r88	UTSW	14	51418550	missense	probably damaging	1.00
R1639:Vmn2r88	UTSW	14	51416787	missense	probably damaging	0.98
R1780:Vmn2r88	UTSW	14	51418572	missense	probably damaging	1.00
R1834:Vmn2r88	UTSW	14	51413030	splice site	probably benign
R1911:Vmn2r88	UTSW	14	51418214	missense	probably damaging	1.00
R2120:Vmn2r88	UTSW	14	51413208	missense	probably benign	0.00
R2126:Vmn2r88	UTSW	14	51413807	missense	probably benign	0.01
R2348:Vmn2r88	UTSW	14	51414004	missense	probably benign	0.00
R2881:Vmn2r88	UTSW	14	51418689	missense	probably damaging	0.97
R2884:Vmn2r88	UTSW	14	51413934	missense	probably damaging	1.00
R3081:Vmn2r88	UTSW	14	51418632	missense	probably damaging	0.99
R3933:Vmn2r88	UTSW	14	51413978	missense	probably benign	0.44
R3967:Vmn2r88	UTSW	14	51413190	missense	probably benign	0.06
R4091:Vmn2r88	UTSW	14	51415426	missense	probably damaging	1.00
R4378:Vmn2r88	UTSW	14	51413289	nonsense	probably null
R4397:Vmn2r88	UTSW	14	51417978	missense	probably damaging	1.00
R4418:Vmn2r88	UTSW	14	51418081	missense	probably damaging	1.00
R4609:Vmn2r88	UTSW	14	51418074	missense	probably damaging	0.98
R4647:Vmn2r88	UTSW	14	51418793	missense	probably benign	0.02
R4672:Vmn2r88	UTSW	14	51418155	missense	probably damaging	1.00
R4684:Vmn2r88	UTSW	14	51413334	missense	possibly damaging	0.95
R4686:Vmn2r88	UTSW	14	51413339	missense	probably benign	0.03
R4720:Vmn2r88	UTSW	14	51413245	missense	probably benign	0.01
R5046:Vmn2r88	UTSW	14	51413181	missense	probably benign	0.03
R5063:Vmn2r88	UTSW	14	51411146	missense	probably damaging	0.96
R5619:Vmn2r88	UTSW	14	51413910	missense	probably damaging	0.99
R5652:Vmn2r88	UTSW	14	51418572	missense	probably damaging	0.98
R6020:Vmn2r88	UTSW	14	51418149	nonsense	probably null
R6103:Vmn2r88	UTSW	14	51415369	missense	probably benign	0.17
R6674:Vmn2r88	UTSW	14	51414338	missense	probably benign	0.01
R6799:Vmn2r88	UTSW	14	51413969	missense	probably benign	0.05
R7089:Vmn2r88	UTSW	14	51418643	missense
R7104:Vmn2r88	UTSW	14	51413796	missense
R7265:Vmn2r88	UTSW	14	51418319	missense
R7316:Vmn2r88	UTSW	14	51414255	missense
R7552:Vmn2r88	UTSW	14	51410858	splice site	probably null
R7611:Vmn2r88	UTSW	14	51413997	missense
R7667:Vmn2r88	UTSW	14	51417989	missense
R7682:Vmn2r88	UTSW	14	51418449	missense
R7755:Vmn2r88	UTSW	14	51413046	missense	probably benign	0.00
R7811:Vmn2r88	UTSW	14	51418703	missense
R7882:Vmn2r88	UTSW	14	51413046	missense	probably benign	0.00
R7957:Vmn2r88	UTSW	14	51413132	missense
R7998:Vmn2r88	UTSW	14	51414108	missense
R8142:Vmn2r88	UTSW	14	51414107	missense
R8186:Vmn2r88	UTSW	14	51418700	missense
R8348:Vmn2r88	UTSW	14	51418796	missense	probably damaging	0.97
R8448:Vmn2r88	UTSW	14	51418796	missense	probably damaging	0.97
R8483:Vmn2r88	UTSW	14	51413073	missense	possibly damaging	0.48
R8783:Vmn2r88	UTSW	14	51414066	missense
R8859:Vmn2r88	UTSW	14	51418806	missense	probably damaging	0.97
R8916:Vmn2r88	UTSW	14	51411136	missense
R8936:Vmn2r88	UTSW	14	51418526	missense	possibly damaging	0.88
R9004:Vmn2r88	UTSW	14	51413167	missense
R9038:Vmn2r88	UTSW	14	51414033	missense
R9063:Vmn2r88	UTSW	14	51410872	start gained	probably benign
R9311:Vmn2r88	UTSW	14	51413046	missense	probably benign	0.00
R9382:Vmn2r88	UTSW	14	51418740	missense
R9483:Vmn2r88	UTSW	14	51411184	missense
R9602:Vmn2r88	UTSW	14	51413732	missense
V5622:Vmn2r88	UTSW	14	51413127	missense	probably benign
X0024:Vmn2r88	UTSW	14	51413832	missense	possibly damaging	0.79
X0025:Vmn2r88	UTSW	14	51416802	missense	possibly damaging	0.59
Z1177:Vmn2r88	UTSW	14	51418046	frame shift	probably null
Z1177:Vmn2r88	UTSW	14	51418187	missense
Z1190:Vmn2r88	UTSW	14	51413201	missense

Predicted Primers

PCR Primer
(F):5'- GGAACAGTGTGTGAAGTGTCC -3'
(R):5'- TCCTGGAGTAGTGAGCTTGAAAG -3'

Sequencing Primer
(F):5'- AACAGTGTGTGAAGTGTCCATATG -3'
(R):5'- GAAAGCCATGACCACAGTTATTG -3'

Posted On

2014-09-18