Mutagenetix > Incidental Mutation

Incidental Mutation 'R8218:Vmn2r108'

636514

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 #

R8218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20462373-20481236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20463203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 580 (Y580H)

Ref Sequence

ENSEMBL: ENSMUSP00000130373 (fasta)

Gene Model

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

AlphaFold

E9PYS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000167314
AA Change: Y580H

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

SMART Domains

Protein: ENSMUSP00000130373
Gene: ENSMUSG00000091805
AA Change: Y580H

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	G	A	15: 84,955,467	H191Y	probably damaging	Het
5730480H06Rik	T	A	5: 48,379,427	L155*	probably null	Het
Ackr4	T	C	9: 104,099,211	N179S	probably benign	Het
Acp5	T	C	9: 22,129,606	Y107C	probably damaging	Het
Aff4	A	T	11: 53,398,257	H411L	probably damaging	Het
Atp5f1	A	G	3: 105,959,186	M1T	probably null	Het
Atp8b5	G	A	4: 43,372,728		probably null	Het
C1qtnf2	A	G	11: 43,490,948	T166A	possibly damaging	Het
Dctn2	A	G	10: 127,276,529	D170G	probably damaging	Het
Dennd3	T	A	15: 73,512,773	S10T	probably benign	Het
Ehbp1	T	C	11: 22,096,096	Y551C	possibly damaging	Het
Eif4g2	A	T	7: 111,074,432	D743E	possibly damaging	Het
Esr1	G	A	10: 4,746,808		probably null	Het
Exo1	A	T	1: 175,900,914	I515L	probably benign	Het
Fam71f2	T	C	6: 29,286,073	I177T	probably damaging	Het
Fam83h	C	T	15: 76,003,037	G817D	probably damaging	Het
Gcn1l1	G	A	5: 115,581,529	S361N	probably benign	Het
Gm6337	C	T	14: 6,050,613		probably null	Het
Grk4	T	A	5: 34,669,196	S47T	probably benign	Het
Gstp2	C	A	19: 4,041,668	M20I	probably benign	Het
Harbi1	T	C	2: 91,712,892	F233L	probably benign	Het
Iqch	C	T	9: 63,482,633	V755I	possibly damaging	Het
Iws1	T	C	18: 32,093,635	F756L	probably benign	Het
Kcnh6	T	G	11: 106,017,374	V272G	possibly damaging	Het
Kcnj10	C	T	1: 172,368,972	R18C	probably damaging	Het
Kmt2c	A	C	5: 25,283,106	S4670A	probably damaging	Het
Krt80	T	G	15: 101,370,003	M18L	probably benign	Het
Lbx1	A	G	19: 45,234,920	V103A	probably benign	Het
March8	A	T	6: 116,338,098		probably benign	Het
Mfsd7c	GTAGTGTATA	GTA	12: 85,803,148		probably null	Het
Muc16	T	A	9: 18,637,019	T5993S	possibly damaging	Het
Olfr1048	C	T	2: 86,236,518	V106M	probably benign	Het
Olfr1122	C	T	2: 87,388,578	T291I	probably damaging	Het
Olfr346	A	G	2: 36,688,673	T224A	probably benign	Het
Olfr99	A	G	17: 37,279,820	V200A	probably benign	Het
Pbxip1	A	G	3: 89,445,595	I183V	probably benign	Het
Pcdh20	T	A	14: 88,468,611	I418F	probably damaging	Het
Pclo	T	C	5: 14,675,663	F1512L	unknown	Het
Phf2	G	T	13: 48,804,628	T970K	unknown	Het
Pidd1	A	G	7: 141,439,653	V698A	probably damaging	Het
Pik3ca	T	A	3: 32,437,847	V198D	possibly damaging	Het
Pip5k1c	T	A	10: 81,306,416	D153E	probably damaging	Het
Ppfia2	A	G	10: 106,863,375	D795G	probably benign	Het
Pramef8	A	T	4: 143,419,136	I392F	probably benign	Het
Prkar2a	C	A	9: 108,719,249	A131D	possibly damaging	Het
Pter	A	G	2: 12,980,555	D232G	probably damaging	Het
Qser1	C	T	2: 104,762,923	R1583Q	probably damaging	Het
Rasal2	A	C	1: 157,157,381	V932G	probably damaging	Het
Rasgrf2	G	A	13: 91,982,677	A154V		Het
Rbm4	A	G	19: 4,787,416	Y347H	probably damaging	Het
Rfxank	C	A	8: 70,131,435		probably null	Het
Robo1	C	G	16: 72,989,790	R897G	possibly damaging	Het
Sash1	G	A	10: 8,751,236	T364I	probably damaging	Het
Skint6	T	A	4: 112,839,274		probably null	Het
Slc22a4	T	A	11: 53,986,581	M495L	probably benign	Het
Slc39a8	G	A	3: 135,857,564	V212I	probably benign	Het
Slc40a1	A	C	1: 45,910,969	V441G	probably benign	Het
Slc7a11	A	T	3: 50,424,052	Y246N	probably damaging	Het
Spata9	T	C	13: 75,977,773	V125A	probably benign	Het
Svopl	T	A	6: 38,014,806	M380L	probably benign	Het
Sycp2l	T	C	13: 41,118,068	Y23H	probably damaging	Het
Syt11	A	T	3: 88,762,120	V155E	probably benign	Het
Syt5	T	C	7: 4,542,823	Y147C	probably damaging	Het
Thg1l	T	C	11: 45,955,450	T6A	probably benign	Het
Tlr2	A	G	3: 83,838,239	L179P	probably damaging	Het
Tsn	A	T	1: 118,305,254	Y107N	probably damaging	Het
Tspan32	A	T	7: 143,011,095	Y114F	probably benign	Het
Tube1	A	C	10: 39,147,379	S341R	possibly damaging	Het
Ubn2	T	A	6: 38,489,279	V516D	probably benign	Het
Vmn1r21	G	T	6: 57,843,925	T178K	noncoding transcript	Het
Wdr75	T	A	1: 45,818,182	F546L	probably damaging	Het
Yy1	A	G	12: 108,793,693	D94G	probably benign	Het
Zfhx3	A	G	8: 108,950,717	T2800A	probably benign	Het
Zfy2	T	C	Y: 2,133,421	T9A	unknown	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
R8507:Vmn2r108	UTSW	17	20462933	nonsense	probably null
R8708:Vmn2r108	UTSW	17	20462425	missense	probably damaging	0.98
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'- GCCACAGTGAATGCAACTCC -3'
(R):5'- GTCTTCCTACAGATAGACATTTCCG -3'

Sequencing Primer
(F):5'- CCAAATATGTTCTGCTGAAGGATGC -3'
(R):5'- GGTGAAATTTGTGAAAGTCCTTGTAC -3'

Posted On

2020-07-13