Mutagenetix > Incidental Mutations

Incidental Mutation 'R2054:Vmn2r17'

226515

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r17

Ensembl Gene

ENSMUSG00000091879

Gene Name

vomeronasal 2, receptor 17

Synonyms

EG384221

MMRRC Submission

040059-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R2054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109420013-109453387 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109452486 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 550 (M550T)

Ref Sequence

ENSEMBL: ENSMUSP00000131450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171841]

Predicted Effect

probably damaging
Transcript: ENSMUST00000171841
AA Change: M550T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131450
Gene: ENSMUSG00000091879
AA Change: M550T

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	76	465	7e-26	PFAM
Pfam:NCD3G	508	562	3.5e-18	PFAM
Pfam:7tm_3	593	830	4.8e-55	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,837,736	C94S	possibly damaging	Het
4932438A13Rik	A	G	3: 36,947,853	T1316A	probably benign	Het
4933417A18Rik	T	A	13: 34,924,591	Y19N	probably damaging	Het
9330182L06Rik	C	A	5: 9,463,030	T1008K	possibly damaging	Het
A930011G23Rik	T	C	5: 99,228,055	Y432C	probably benign	Het
Abtb2	A	G	2: 103,705,117	D543G	probably benign	Het
Adam9	A	T	8: 24,991,294	V318E	probably damaging	Het
Aim2	T	C	1: 173,463,982	F318L	probably damaging	Het
Apob	A	T	12: 8,013,134	D3872V	probably damaging	Het
Atat1	T	A	17: 35,901,369	R323W	probably null	Het
Atp2b4	T	C	1: 133,715,169	D1066G	probably benign	Het
Caskin2	T	C	11: 115,806,301		probably benign	Het
Ccdc54	T	A	16: 50,590,624	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,937,391	D159E	possibly damaging	Het
Cnot1	A	C	8: 95,739,841	S1589R	possibly damaging	Het
Copa	T	A	1: 172,118,957	Y980*	probably null	Het
Defb19	A	G	2: 152,576,170	I82T	possibly damaging	Het
Fiz1	G	A	7: 5,008,236	R428C	probably damaging	Het
Fnip2	A	T	3: 79,572,465		probably benign	Het
Gabrb3	G	A	7: 57,824,493	G408S	probably benign	Het
Gif	G	A	19: 11,759,006	V314I	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Hao1	C	T	2: 134,498,258		silent	Het
Hecw1	T	A	13: 14,297,413	M557L	probably damaging	Het
Itch	A	T	2: 155,210,576	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,823,374		probably benign	Het
Leng8	T	G	7: 4,144,290	Y562*	probably null	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrp1b	A	T	2: 40,697,482	N151K	unknown	Het
Lrrc71	T	C	3: 87,742,673	E316G	probably damaging	Het
Mgat5	A	G	1: 127,397,607	N404D	probably damaging	Het
Mrps26	C	A	2: 130,564,167	T100K	probably benign	Het
Mtor	A	G	4: 148,462,852	T431A	probably benign	Het
Mtor	T	A	4: 148,466,025	C713S	probably benign	Het
Mug2	A	G	6: 122,077,492	K1077E	probably damaging	Het
Nbas	A	G	12: 13,474,206	T1688A	probably benign	Het
Nek2	T	C	1: 191,821,652	S3P	possibly damaging	Het
Nell2	T	C	15: 95,435,109	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846	I453K	probably damaging	Het
Pcnx	A	G	12: 81,933,674	H865R	probably benign	Het
Pex1	T	C	5: 3,603,341	V80A	possibly damaging	Het
Phka2	T	A	X: 160,554,327	D424E	probably damaging	Het
Pkd1	C	T	17: 24,574,796	T1819I	probably benign	Het
Poglut1	T	C	16: 38,534,807	D219G	probably damaging	Het
Ppargc1a	T	C	5: 51,473,788	I500V	possibly damaging	Het
Pygm	C	G	19: 6,388,155	N163K	probably benign	Het
Qrich1	T	A	9: 108,559,270	N722K	possibly damaging	Het
Reep6	T	A	10: 80,330,322	C104*	probably null	Het
Rfx8	A	G	1: 39,685,559	V214A	possibly damaging	Het
Sis	G	A	3: 72,913,237	T1398I	probably benign	Het
Skint5	A	G	4: 113,819,163		probably null	Het
Slc7a14	A	G	3: 31,237,362		probably benign	Het
Smc2	T	A	4: 52,462,948	M646K	probably benign	Het
Snx29	A	G	16: 11,631,492	N165S	probably damaging	Het
Supt6	T	A	11: 78,224,361		probably benign	Het
Tead4	G	T	6: 128,270,962	S37R	probably damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tff2	T	C	17: 31,143,225	K40E	probably benign	Het
Traip	C	T	9: 107,962,919	T265M	probably benign	Het
Trim47	T	C	11: 116,108,283	T256A	probably benign	Het
Trpm1	A	G	7: 64,240,555	M853V	possibly damaging	Het
Tti1	G	T	2: 158,007,445	Q625K	possibly damaging	Het
Ube2n	A	G	10: 95,541,266	N31S	probably damaging	Het
Zfp512	T	A	5: 31,465,449	N31K	probably benign	Het
Zfp64	A	G	2: 168,925,808	V628A	probably damaging	Het

Other mutations in Vmn2r17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Vmn2r17	APN	5	109427992	missense	probably benign	0.15
IGL01457:Vmn2r17	APN	5	109453032	missense	probably benign	0.00
IGL01527:Vmn2r17	APN	5	109453140	missense	probably damaging	1.00
IGL01693:Vmn2r17	APN	5	109452518	missense	probably damaging	1.00
IGL01738:Vmn2r17	APN	5	109429498	missense	probably damaging	1.00
IGL01767:Vmn2r17	APN	5	109420037	missense	probably benign	0.01
IGL01932:Vmn2r17	APN	5	109427050	missense	probably benign	0.00
IGL01970:Vmn2r17	APN	5	109427947	missense	probably damaging	0.97
IGL02009:Vmn2r17	APN	5	109452848	missense	possibly damaging	0.67
IGL02365:Vmn2r17	APN	5	109453309	missense	probably damaging	1.00
IGL02385:Vmn2r17	APN	5	109434381	missense	probably damaging	1.00
IGL02457:Vmn2r17	APN	5	109453146	missense	probably damaging	1.00
IGL02646:Vmn2r17	APN	5	109453080	missense	probably damaging	1.00
IGL02741:Vmn2r17	APN	5	109420211	missense	probably benign
IGL03213:Vmn2r17	APN	5	109434390	critical splice donor site	probably null
IGL03216:Vmn2r17	APN	5	109452890	missense	probably damaging	1.00
IGL03342:Vmn2r17	APN	5	109427916	missense	probably damaging	1.00
IGL03408:Vmn2r17	APN	5	109429372	splice site	probably benign
R0349:Vmn2r17	UTSW	5	109428336	missense	probably damaging	1.00
R0418:Vmn2r17	UTSW	5	109452881	missense	probably damaging	1.00
R0800:Vmn2r17	UTSW	5	109427326	splice site	probably benign
R0836:Vmn2r17	UTSW	5	109427956	missense	possibly damaging	0.89
R1715:Vmn2r17	UTSW	5	109428244	missense	probably benign	0.00
R1738:Vmn2r17	UTSW	5	109428511	missense	probably benign	0.10
R1801:Vmn2r17	UTSW	5	109428478	missense	probably damaging	1.00
R2060:Vmn2r17	UTSW	5	109427209	missense	probably benign	0.00
R2192:Vmn2r17	UTSW	5	109434278	missense	possibly damaging	0.81
R2315:Vmn2r17	UTSW	5	109428031	missense	probably damaging	1.00
R2374:Vmn2r17	UTSW	5	109427238	missense	probably benign
R3612:Vmn2r17	UTSW	5	109429597	missense	probably benign	0.00
R3832:Vmn2r17	UTSW	5	109428396	missense	probably damaging	1.00
R4273:Vmn2r17	UTSW	5	109452966	missense	probably benign	0.44
R4494:Vmn2r17	UTSW	5	109428469	missense	probably damaging	1.00
R4597:Vmn2r17	UTSW	5	109429562	missense	probably benign	0.01
R4675:Vmn2r17	UTSW	5	109427183	missense	probably benign	0.00
R4701:Vmn2r17	UTSW	5	109427983	missense	probably damaging	0.99
R4754:Vmn2r17	UTSW	5	109452849	missense	probably damaging	0.99
R4841:Vmn2r17	UTSW	5	109434380	missense	probably damaging	1.00
R4842:Vmn2r17	UTSW	5	109434380	missense	probably damaging	1.00
R4865:Vmn2r17	UTSW	5	109427119	missense	probably damaging	1.00
R4902:Vmn2r17	UTSW	5	109453354	missense	probably benign	0.14
R4989:Vmn2r17	UTSW	5	109427873	missense	probably benign	0.07
R5101:Vmn2r17	UTSW	5	109428351	missense	probably damaging	0.99
R5109:Vmn2r17	UTSW	5	109429476	missense	probably benign	0.06
R5123:Vmn2r17	UTSW	5	109427908	missense	possibly damaging	0.90
R5474:Vmn2r17	UTSW	5	109434284	missense	probably damaging	1.00
R5485:Vmn2r17	UTSW	5	109420106	missense	probably benign	0.06
R5611:Vmn2r17	UTSW	5	109428164	missense	probably damaging	0.97
R5652:Vmn2r17	UTSW	5	109429564	missense	probably benign	0.10
R5717:Vmn2r17	UTSW	5	109427274	missense	possibly damaging	0.94
R5735:Vmn2r17	UTSW	5	109452850	missense	possibly damaging	0.67
R5766:Vmn2r17	UTSW	5	109427273	missense	possibly damaging	0.46
R6645:Vmn2r17	UTSW	5	109428381	missense	probably damaging	1.00
R6786:Vmn2r17	UTSW	5	109427829	missense	probably benign	0.30
R6821:Vmn2r17	UTSW	5	109429465	missense	probably damaging	1.00
R6979:Vmn2r17	UTSW	5	109428399	missense	possibly damaging	0.46
R6984:Vmn2r17	UTSW	5	109452667	missense	probably benign	0.10
R7269:Vmn2r17	UTSW	5	109428471	missense	possibly damaging	0.88
R7509:Vmn2r17	UTSW	5	109427829	missense	probably benign	0.30
R7736:Vmn2r17	UTSW	5	109452891	missense	probably benign	0.05
R7789:Vmn2r17	UTSW	5	109452965	missense	possibly damaging	0.77
R7814:Vmn2r17	UTSW	5	109427873	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CTCCTCCATTCCCTAAGATGGTATG -3'
(R):5'- ATGGGAGTATCCTTGTACTTCAC -3'

Sequencing Primer
(F):5'- TCACCAAGCATAGGATAATACAGAG -3'
(R):5'- GGGAGTATCCTTGTACTTCACAAAAG -3'

Posted On

2014-09-17