Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Vmn2r108'

669407

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r108

Ensembl Gene

ENSMUSG00000091805

Gene Name

vomeronasal 2, receptor 108

Synonyms

EG627805

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20462373-20481236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20462425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 839 (N839I)

Ref Sequence

ENSEMBL: ENSMUSP00000130373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167314]

AlphaFold

E9PYS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000167314
AA Change: N839I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130373
Gene: ENSMUSG00000091805
AA Change: N839I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	83	467	6e-33	PFAM
Pfam:NCD3G	510	563	9.2e-22	PFAM
Pfam:7tm_3	593	831	2.2e-51	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428		probably benign	Het
Bptf	C	A	11: 107,073,313	S1685I	probably damaging	Het
Bptf	T	A	11: 107,073,314	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,627,455	I1437N		Het
Capn1	T	C	19: 6,011,298	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580		probably null	Het
Ckap5	T	A	2: 91,595,478	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300		probably benign	Het
Exph5	T	A	9: 53,375,796	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897	C156S		Het
Gm6904	A	T	14: 59,244,813	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824		probably null	Het
Itpa	T	A	2: 130,675,719	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391		probably benign	Het
Lasp1	A	G	11: 97,806,883	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542	S226*	probably null	Het
Mios	G	A	6: 8,234,255	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796		probably benign	Het
Naca	A	T	10: 128,048,074	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773		probably null	Het
Olfr1245	C	A	2: 89,575,279	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553		probably benign	Het
Plekhh2	A	T	17: 84,574,993	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866	H398R	unknown	Het
Rab26	A	T	17: 24,529,798	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864		probably benign	Het
Radil	A	G	5: 142,485,449	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769		probably benign	Het
Tmco3	A	G	8: 13,295,998	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398		probably benign	Het
Trio	T	A	15: 27,732,546	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040	F270C	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532	V3016L		Het
Wdr11	A	G	7: 129,599,056	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092		probably benign	Het
Wrn	T	A	8: 33,292,643	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277		probably null	Het
Zfat	T	A	15: 68,084,429	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052	S62A	probably benign	Het

Other mutations in Vmn2r108

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Vmn2r108	APN	17	20462512	missense	probably damaging	0.98
IGL01143:Vmn2r108	APN	17	20462465	missense	possibly damaging	0.82
IGL01311:Vmn2r108	APN	17	20462677	nonsense	probably null
IGL01411:Vmn2r108	APN	17	20471020	missense	probably benign	0.01
IGL01414:Vmn2r108	APN	17	20471680	missense	probably benign	0.00
IGL01536:Vmn2r108	APN	17	20463281	missense	probably damaging	1.00
IGL01748:Vmn2r108	APN	17	20463214	missense	probably benign	0.03
IGL01769:Vmn2r108	APN	17	20471018	missense	probably benign	0.02
IGL02022:Vmn2r108	APN	17	20471725	missense	possibly damaging	0.77
IGL02041:Vmn2r108	APN	17	20463136	missense	probably damaging	1.00
IGL02049:Vmn2r108	APN	17	20471346	missense	probably benign	0.00
IGL02344:Vmn2r108	APN	17	20469143	missense	probably damaging	1.00
IGL02939:Vmn2r108	APN	17	20471283	missense	probably benign	0.05
IGL03202:Vmn2r108	APN	17	20471057	nonsense	probably null
PIT4498001:Vmn2r108	UTSW	17	20463017	missense	probably damaging	1.00
R0112:Vmn2r108	UTSW	17	20471635	missense	probably benign	0.07
R0505:Vmn2r108	UTSW	17	20462834	missense	possibly damaging	0.77
R0833:Vmn2r108	UTSW	17	20471459	missense	probably benign
R0836:Vmn2r108	UTSW	17	20471459	missense	probably benign
R0943:Vmn2r108	UTSW	17	20471135	nonsense	probably null
R1411:Vmn2r108	UTSW	17	20462845	missense	probably damaging	0.98
R1442:Vmn2r108	UTSW	17	20472361	nonsense	probably null
R1587:Vmn2r108	UTSW	17	20472121	missense	probably damaging	1.00
R1751:Vmn2r108	UTSW	17	20462524	missense	probably damaging	1.00
R1773:Vmn2r108	UTSW	17	20469073	missense	probably damaging	1.00
R2021:Vmn2r108	UTSW	17	20470990	missense	probably benign	0.00
R2159:Vmn2r108	UTSW	17	20469101	missense	probably benign	0.41
R2224:Vmn2r108	UTSW	17	20481033	nonsense	probably null
R2226:Vmn2r108	UTSW	17	20481033	nonsense	probably null
R2517:Vmn2r108	UTSW	17	20472315	missense	probably damaging	1.00
R3710:Vmn2r108	UTSW	17	20462670	missense	probably benign
R4470:Vmn2r108	UTSW	17	20462728	missense	probably damaging	1.00
R4686:Vmn2r108	UTSW	17	20471374	missense	probably damaging	0.99
R4729:Vmn2r108	UTSW	17	20472370	missense	probably damaging	0.99
R4799:Vmn2r108	UTSW	17	20462629	missense	probably damaging	1.00
R4993:Vmn2r108	UTSW	17	20481187	missense	probably benign	0.04
R5088:Vmn2r108	UTSW	17	20470192	missense	possibly damaging	0.46
R5213:Vmn2r108	UTSW	17	20471493	missense	probably benign	0.00
R5289:Vmn2r108	UTSW	17	20471604	missense	probably damaging	1.00
R5290:Vmn2r108	UTSW	17	20471403	missense	probably benign	0.00
R5713:Vmn2r108	UTSW	17	20471028	missense	probably damaging	1.00
R5753:Vmn2r108	UTSW	17	20462917	missense	probably damaging	0.99
R5792:Vmn2r108	UTSW	17	20463136	missense	probably damaging	0.99
R5798:Vmn2r108	UTSW	17	20472283	missense	probably benign	0.39
R5897:Vmn2r108	UTSW	17	20471318	missense	probably benign	0.01
R6018:Vmn2r108	UTSW	17	20463006	missense	possibly damaging	0.83
R6093:Vmn2r108	UTSW	17	20481140	missense	probably benign	0.00
R6156:Vmn2r108	UTSW	17	20472185	missense	probably benign	0.03
R6199:Vmn2r108	UTSW	17	20462382	missense	probably benign	0.01
R6259:Vmn2r108	UTSW	17	20463109	missense	possibly damaging	0.95
R6309:Vmn2r108	UTSW	17	20471398	missense	probably damaging	0.98
R6324:Vmn2r108	UTSW	17	20471715	nonsense	probably null
R6364:Vmn2r108	UTSW	17	20470998	missense	probably benign	0.00
R6446:Vmn2r108	UTSW	17	20472347	nonsense	probably null
R6541:Vmn2r108	UTSW	17	20481218	missense	probably benign	0.02
R7025:Vmn2r108	UTSW	17	20471083	missense	possibly damaging	0.67
R7063:Vmn2r108	UTSW	17	20481148	missense	probably damaging	1.00
R7092:Vmn2r108	UTSW	17	20481076	missense	probably benign	0.10
R7096:Vmn2r108	UTSW	17	20462500	missense	probably damaging	1.00
R7203:Vmn2r108	UTSW	17	20462776	missense	probably benign	0.12
R7458:Vmn2r108	UTSW	17	20472270	missense	probably benign	0.17
R7619:Vmn2r108	UTSW	17	20472195	missense	probably benign	0.02
R7841:Vmn2r108	UTSW	17	20470043	critical splice donor site	probably null
R7944:Vmn2r108	UTSW	17	20471628	missense	probably damaging	0.99
R8048:Vmn2r108	UTSW	17	20471500	missense	probably benign	0.29
R8213:Vmn2r108	UTSW	17	20470088	missense	probably benign	0.03
R8218:Vmn2r108	UTSW	17	20463203	missense	probably damaging	1.00
R8507:Vmn2r108	UTSW	17	20462933	nonsense	probably null
R8845:Vmn2r108	UTSW	17	20471099	missense	probably benign	0.03
R9030:Vmn2r108	UTSW	17	20470050	missense	probably benign	0.01
R9226:Vmn2r108	UTSW	17	20471068	missense	probably benign
R9278:Vmn2r108	UTSW	17	20472299	missense	probably benign	0.11
X0022:Vmn2r108	UTSW	17	20471109	missense	probably damaging	1.00
Z1088:Vmn2r108	UTSW	17	20471113	missense	probably benign	0.01
Z1177:Vmn2r108	UTSW	17	20470957	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTCAGAGGGTAATCTGGGAAG -3'
(R):5'- CTCATTCAGCATGGTGGTGTTC -3'

Sequencing Primer
(F):5'- ctgggaagggagataatatttga -3'
(R):5'- TTCTTCTGTGTATGGGTCACC -3'

Posted On

2021-04-30