Mutagenetix > Incidental Mutation

Incidental Mutation 'R1465:Vmn2r118'

201106

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r118

Ensembl Gene

ENSMUSG00000091504

Gene Name

vomeronasal 2, receptor 118

Synonyms

EG383258, Vmn2r119, EG668547

MMRRC Submission

039519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R1465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55592341-55624672 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55610935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 192 (N192K)

Ref Sequence

ENSEMBL: ENSMUSP00000131128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168440]

AlphaFold

E9Q1C1

Predicted Effect

probably benign
Transcript: ENSMUST00000168440
AA Change: N192K

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131128
Gene: ENSMUSG00000091504
AA Change: N192K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	142	470	4.6e-27	PFAM
Pfam:NCD3G	513	566	2.6e-20	PFAM
Pfam:7tm_3	599	834	5.9e-55	PFAM

Coding Region Coverage

1x: 97.3%
3x: 96.5%
10x: 93.6%
20x: 86.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,740,566	Y121H	probably damaging	Het
Abca13	G	T	11: 9,399,303	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,284,961	Y192H	probably damaging	Het
Afm	A	T	5: 90,550,341	D534V	probably damaging	Het
Agl	T	C	3: 116,771,372	E1076G	probably benign	Het
Angptl3	A	T	4: 99,037,520	H361L	probably benign	Het
Apob	T	C	12: 8,011,421	F3301S	possibly damaging	Het
Arhgef33	T	A	17: 80,367,301	C376S	possibly damaging	Het
Ass1	A	G	2: 31,520,416	*413W	probably null	Het
Atp6v1h	T	A	1: 5,095,688	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,829,950	S14F	probably damaging	Het
Birc6	G	A	17: 74,623,858	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,271,021	A589T	possibly damaging	Het
Casp9	C	A	4: 141,805,840	T252K	probably benign	Het
Cct4	G	A	11: 23,002,922	D533N	probably damaging	Het
Clcn6	A	C	4: 148,013,901	I555S	probably damaging	Het
Col4a4	A	T	1: 82,497,822		probably null	Het
Cyp2d10	A	T	15: 82,403,928		probably null	Het
D930048N14Rik	A	G	11: 51,654,913		probably benign	Het
Dhfr	A	G	13: 92,368,307		probably benign	Het
Dlg5	T	C	14: 24,154,696		probably null	Het
Dnah11	T	C	12: 118,038,695	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,866,088	E17G	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,669,322	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034	S212P	probably damaging	Het
Ephb6	T	C	6: 41,616,106	F426S	probably damaging	Het
F5	A	T	1: 164,198,833	D1658V	probably benign	Het
Faah	A	T	4: 115,999,558	V469E	probably damaging	Het
Fas	T	C	19: 34,316,613	C123R	probably damaging	Het
Fhod1	T	C	8: 105,338,914		probably benign	Het
Filip1	A	G	9: 79,898,307	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,157,607	G87S	probably damaging	Het
Gm4737	T	C	16: 46,153,848	K389E	probably benign	Het
Gm5096	T	G	18: 87,757,258	F302V	probably damaging	Het
Golga3	T	C	5: 110,209,878	L1080P	probably damaging	Het
Gpr137	T	C	19: 6,938,444	T281A	probably benign	Het
Grap2	T	A	15: 80,648,411		probably null	Het
Hlcs	T	C	16: 94,268,292	D170G	probably damaging	Het
Hook1	A	G	4: 96,013,256	T484A	probably benign	Het
Hoxa5	T	A	6: 52,203,791	H187L	probably benign	Het
Inpp1	G	T	1: 52,790,094	S255R	probably benign	Het
Inpp4b	T	A	8: 81,768,157	V67E	probably damaging	Het
Iqgap3	A	G	3: 88,087,309	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,469,468		probably null	Het
Klhl1	T	C	14: 96,240,213	N473S	probably benign	Het
Klk1b24	C	A	7: 44,191,361	T71N	probably benign	Het
Loxhd1	A	G	18: 77,380,573		probably null	Het
Lrp1b	C	T	2: 41,111,059	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,025,235	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,107,389	K419N	possibly damaging	Het
Lrrc9	A	G	12: 72,500,759	N150S	probably benign	Het
Lrrn4	C	A	2: 132,872,075	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,813,300	S627G	probably damaging	Het
Macf1	A	T	4: 123,493,154	S1224T	probably damaging	Het
Meis2	A	C	2: 116,058,670	H200Q	probably benign	Het
Mesd	C	A	7: 83,895,582	A80E	probably benign	Het
Mtor	G	T	4: 148,525,993		probably benign	Het
Myo3a	T	C	2: 22,577,927	F398L	probably benign	Het
Nagpa	G	T	16: 5,201,528		probably benign	Het
Nanp	A	G	2: 151,030,829	C60R	probably benign	Het
Nectin2	T	G	7: 19,730,116	M313L	probably benign	Het
Nek4	C	T	14: 30,956,887	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,408,781	V371A	probably damaging	Het
Ntrk3	T	C	7: 78,356,014		probably benign	Het
Olfr1463	T	A	19: 13,234,901	V217E	possibly damaging	Het
Olfr156	A	G	4: 43,820,723	F213L	probably benign	Het
Olfr658	T	C	7: 104,644,946	N140S	probably benign	Het
Olfr740	A	G	14: 50,453,177	T42A	possibly damaging	Het
Pcdh20	T	A	14: 88,469,237	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,504,697	R92H	probably damaging	Het
Pgap1	T	C	1: 54,528,555	H377R	probably benign	Het
Phyhipl	G	T	10: 70,570,968	P52Q	probably damaging	Het
Plekhg4	T	C	8: 105,381,040		probably benign	Het
Pwwp2a	T	A	11: 43,705,556	V516E	possibly damaging	Het
Rack1	T	C	11: 48,801,759	V69A	probably damaging	Het
Rexo5	T	A	7: 119,801,358		probably null	Het
Rnf123	T	C	9: 108,071,466		probably benign	Het
Rock1	G	T	18: 10,072,863	Q1161K	possibly damaging	Het
Rps6ka2	T	C	17: 7,292,867	L568P	probably damaging	Het
Seh1l	T	C	18: 67,783,984	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,155,843		probably null	Het
Setd1a	T	C	7: 127,788,340		probably benign	Het
Setx	G	T	2: 29,140,389		probably null	Het
Sh3bp1	T	C	15: 78,907,345		probably benign	Het
Shc2	G	T	10: 79,631,302	R146S	probably damaging	Het
Skap2	T	C	6: 51,909,368	T5A	probably benign	Het
Skor2	A	T	18: 76,876,645		probably benign	Het
Slc35a3	T	C	3: 116,687,334	I93M	probably benign	Het
Sohlh1	C	T	2: 25,843,347	G295D	probably damaging	Het
Speg	A	G	1: 75,428,484		probably benign	Het
Sult2a8	A	C	7: 14,416,283	C168G	probably benign	Het
Tax1bp1	T	C	6: 52,727,194		probably benign	Het
Tbc1d4	T	C	14: 101,447,688	I1176V	possibly damaging	Het
Tcof1	A	G	18: 60,818,954		probably benign	Het
Thada	A	T	17: 84,436,676	F735I	possibly damaging	Het
Tle1	A	C	4: 72,139,831	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,153,329	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,617,931	C95F	probably damaging	Het
Uspl1	T	C	5: 149,214,032	S482P	probably benign	Het
Vmn2r14	C	T	5: 109,220,329	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 10,100,322	I263T	probably damaging	Het
Zfp937	T	A	2: 150,239,047	C332*	probably null	Het
Zscan21	T	A	5: 138,125,208	S50T	probably benign	Het

Other mutations in Vmn2r118

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Vmn2r118	APN	17	55592708	missense	probably damaging	1.00
IGL00976:Vmn2r118	APN	17	55593204	missense	probably damaging	1.00
IGL01419:Vmn2r118	APN	17	55593000	missense	probably benign	0.01
IGL01796:Vmn2r118	APN	17	55608585	missense	probably benign	0.30
IGL01799:Vmn2r118	APN	17	55592990	missense	probably damaging	1.00
IGL02002:Vmn2r118	APN	17	55592619	missense	probably damaging	1.00
IGL02075:Vmn2r118	APN	17	55610517	missense	probably benign	0.18
IGL02172:Vmn2r118	APN	17	55624598	missense	probably benign	0.00
IGL02529:Vmn2r118	APN	17	55610870	missense	possibly damaging	0.58
IGL02712:Vmn2r118	APN	17	55592655	missense	probably benign	0.21
IGL03096:Vmn2r118	APN	17	55607996	missense	probably damaging	1.00
R0306:Vmn2r118	UTSW	17	55608616	missense	possibly damaging	0.89
R0329:Vmn2r118	UTSW	17	55610717	missense	probably damaging	1.00
R0330:Vmn2r118	UTSW	17	55610717	missense	probably damaging	1.00
R0396:Vmn2r118	UTSW	17	55608643	missense	probably benign	0.00
R0411:Vmn2r118	UTSW	17	55611021	splice site	probably benign
R0513:Vmn2r118	UTSW	17	55610970	nonsense	probably null
R0627:Vmn2r118	UTSW	17	55610772	missense	probably benign	0.01
R0638:Vmn2r118	UTSW	17	55608466	missense	probably benign	0.03
R1328:Vmn2r118	UTSW	17	55608620	missense	probably benign	0.01
R1366:Vmn2r118	UTSW	17	55593237	nonsense	probably null
R1465:Vmn2r118	UTSW	17	55610935	missense	probably benign	0.33
R1511:Vmn2r118	UTSW	17	55608496	nonsense	probably null
R1515:Vmn2r118	UTSW	17	55610643	missense	probably benign	0.25
R1550:Vmn2r118	UTSW	17	55608083	missense	probably damaging	1.00
R1779:Vmn2r118	UTSW	17	55611530	missense	probably benign	0.03
R1834:Vmn2r118	UTSW	17	55592456	missense	probably damaging	1.00
R1840:Vmn2r118	UTSW	17	55610406	nonsense	probably null
R1854:Vmn2r118	UTSW	17	55611556	missense	possibly damaging	0.57
R1967:Vmn2r118	UTSW	17	55592882	missense	probably damaging	1.00
R1976:Vmn2r118	UTSW	17	55592925	missense	probably damaging	1.00
R2308:Vmn2r118	UTSW	17	55624650	missense	probably benign	0.33
R3700:Vmn2r118	UTSW	17	55608421	missense	possibly damaging	0.68
R4334:Vmn2r118	UTSW	17	55610347	missense	possibly damaging	0.58
R4647:Vmn2r118	UTSW	17	55610665	missense	probably damaging	1.00
R4709:Vmn2r118	UTSW	17	55610860	missense	probably damaging	1.00
R4805:Vmn2r118	UTSW	17	55592581	missense	probably damaging	1.00
R4858:Vmn2r118	UTSW	17	55592894	missense	probably damaging	0.98
R5384:Vmn2r118	UTSW	17	55611565	missense	probably benign	0.00
R5385:Vmn2r118	UTSW	17	55611565	missense	probably benign	0.00
R5664:Vmn2r118	UTSW	17	55592765	missense	possibly damaging	0.46
R5740:Vmn2r118	UTSW	17	55593103	missense	probably benign	0.00
R5927:Vmn2r118	UTSW	17	55624494	missense	probably benign	0.04
R6143:Vmn2r118	UTSW	17	55592871	missense	possibly damaging	0.92
R6513:Vmn2r118	UTSW	17	55608093	missense	probably damaging	1.00
R6573:Vmn2r118	UTSW	17	55592996	missense	probably damaging	1.00
R6760:Vmn2r118	UTSW	17	55592714	missense	possibly damaging	0.92
R6794:Vmn2r118	UTSW	17	55592348	missense	possibly damaging	0.48
R6929:Vmn2r118	UTSW	17	55610440	missense	probably benign	0.01
R7201:Vmn2r118	UTSW	17	55608496	nonsense	probably null
R7539:Vmn2r118	UTSW	17	55592853	missense	probably damaging	0.98
R7836:Vmn2r118	UTSW	17	55593242	missense	probably damaging	0.99
R8179:Vmn2r118	UTSW	17	55608484	missense	probably benign	0.36
R8248:Vmn2r118	UTSW	17	55610936	missense	probably benign	0.18
R8347:Vmn2r118	UTSW	17	55610423	missense	possibly damaging	0.94
R8415:Vmn2r118	UTSW	17	55608057	missense	probably benign	0.08
R8428:Vmn2r118	UTSW	17	55608642	missense	probably benign	0.33
R8917:Vmn2r118	UTSW	17	55610216	missense	possibly damaging	0.82
R8993:Vmn2r118	UTSW	17	55610835	missense	possibly damaging	0.72
R9038:Vmn2r118	UTSW	17	55611649	missense	probably damaging	1.00
R9155:Vmn2r118	UTSW	17	55610207	missense	probably null	0.83
R9603:Vmn2r118	UTSW	17	55592837	missense	probably damaging	1.00
R9742:Vmn2r118	UTSW	17	55611009	missense	probably damaging	0.98
R9749:Vmn2r118	UTSW	17	55608415	critical splice donor site	probably null
R9792:Vmn2r118	UTSW	17	55592496	missense	probably damaging	0.99
R9793:Vmn2r118	UTSW	17	55592496	missense	probably damaging	0.99
R9795:Vmn2r118	UTSW	17	55592496	missense	probably damaging	0.99
X0022:Vmn2r118	UTSW	17	55593218	missense	probably damaging	1.00
Z1176:Vmn2r118	UTSW	17	55610655	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTGAACCAGATTTTCTGTGTGCC -3'
(R):5'- GTGGAAGCATTTGGAAACTGCCTG -3'

Sequencing Primer
(F):5'- GCTCACTTCTAAAGCAGTATTCAG -3'
(R):5'- GTTGAACTCTACATTTCCAGAGG -3'

Posted On

2014-05-23