Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Vmn2r4'

503177

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r4

Ensembl Gene

ENSMUSG00000092049

Gene Name

vomeronasal 2, receptor 4

Synonyms

EG637053

MMRRC Submission

044341-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64388621-64415296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64406505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 352 (H352Y)

Ref Sequence

ENSEMBL: ENSMUSP00000135228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170280] [ENSMUST00000175724]

AlphaFold

K7N784

Predicted Effect

probably damaging
Transcript: ENSMUST00000170280
AA Change: H263Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: H263Y

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	416	2.7e-72	PFAM
Pfam:Peripla_BP_6	61	240	1.9e-9	PFAM
Pfam:NCD3G	458	511	1.1e-17	PFAM
Pfam:7tm_3	542	779	1.8e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175724
AA Change: H352Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: H352Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	88	505	2.3e-75	PFAM
Pfam:NCD3G	547	600	4.7e-17	PFAM
Pfam:7tm_3	633	867	8.2e-47	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,830,893	P69S	probably damaging	Het
Abca15	A	G	7: 120,373,794	R864G	probably benign	Het
Acbd5	T	C	2: 23,069,478	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,777,390		probably null	Het
Ak3	T	A	19: 29,022,940	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,206,614		probably null	Het
Calcrl	T	C	2: 84,333,530	H439R	probably benign	Het
Casp7	T	A	19: 56,441,020	D279E	possibly damaging	Het
Cckar	A	G	5: 53,699,844	V337A	probably benign	Het
Cep85l	T	C	10: 53,281,555	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Homo
Commd7	T	C	2: 153,632,610	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,294,773	I365F	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dot1l	C	T	10: 80,786,443	A831V	probably benign	Het
Epcam	C	A	17: 87,640,436	N111K	probably damaging	Het
Etnk1	A	G	6: 143,180,798	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,281,950	E221V	probably damaging	Het
Fam189a2	T	C	19: 23,973,438	E593G	probably damaging	Het
Fbl	T	C	7: 28,174,853	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,896,530	Y82*	probably null	Het
Fer1l5	A	G	1: 36,385,160	K285R	probably damaging	Het
Foxn3	G	T	12: 99,196,310	T444K	probably damaging	Het
Gak	C	T	5: 108,625,029		probably null	Het
Gprc6a	T	C	10: 51,626,835	I311V	probably benign	Het
Hrg	T	C	16: 22,954,538		probably null	Het
Htatip2	G	A	7: 49,770,819	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,487,522		probably benign	Het
Kcnq2	T	C	2: 181,113,233	M174V	possibly damaging	Het
Krt39	G	T	11: 99,521,215	P15Q	probably damaging	Het
L1td1	G	A	4: 98,737,418	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,829,382	K88*	probably null	Het
Lims1	A	T	10: 58,394,564	K49M	possibly damaging	Het
Man2a1	T	C	17: 64,713,605	V792A	probably benign	Het
Mcm2	G	T	6: 88,885,862	D749E	probably benign	Het
Mdga1	G	A	17: 29,838,517	T775M	probably damaging	Het
Myb	A	G	10: 21,145,322	S403P	probably benign	Het
Nek6	T	C	2: 38,557,834	S37P	possibly damaging	Het
Olfr149	T	C	9: 39,702,310	H153R	probably benign	Het
Olfr310	A	C	7: 86,269,760	F10V	probably damaging	Het
Olfr622	A	G	7: 103,640,002	V46A	probably benign	Het
Olfr663	G	A	7: 104,703,611	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Prune2	T	A	19: 17,118,116	I328N	probably damaging	Het
Psap	T	A	10: 60,300,538	C484S	probably damaging	Het
Pus1	T	C	5: 110,777,714	D80G	probably benign	Het
Rasa3	T	C	8: 13,598,251	T138A	possibly damaging	Het
Scaf1	G	T	7: 45,007,623		probably benign	Het
Skap1	T	A	11: 96,704,133	Y143*	probably null	Het
Slc22a20	A	G	19: 5,985,941	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,329,064	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,189,125	T154I	possibly damaging	Het
Snai1	T	A	2: 167,538,309	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,210,735	M84K	probably benign	Het
Spop	G	T	11: 95,471,237	K31N	possibly damaging	Het
Surf1	T	C	2: 26,914,807	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,146,339	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,055,837	A67V	probably damaging	Het
Timd4	A	T	11: 46,815,526	M52L	probably damaging	Het
Trav16	A	T	14: 53,743,588	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,908	T147A	probably damaging	Het
Tulp1	A	T	17: 28,358,677		probably benign	Het
Ubqlnl	A	T	7: 104,148,708	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,421,248	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,758,628	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r61	A	T	7: 42,260,192	H47L	probably benign	Het
Vwa5a	A	G	9: 38,722,672	E57G	probably damaging	Het
Zfp180	A	T	7: 24,105,085	R310*	probably null	Het
Zfp672	T	C	11: 58,317,523		probably benign	Het

Other mutations in Vmn2r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Vmn2r4	APN	3	64409779	splice site	probably null
IGL01448:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01452:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01454:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01456:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01463:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01467:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01468:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01470:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01476:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01481:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01534:Vmn2r4	APN	3	64406423	missense	probably damaging	1.00
IGL01636:Vmn2r4	APN	3	64406236	missense	probably benign	0.21
IGL01879:Vmn2r4	APN	3	64391010	missense	probably damaging	1.00
IGL02147:Vmn2r4	APN	3	64398361	splice site	probably benign
IGL02276:Vmn2r4	APN	3	64406456	missense	possibly damaging	0.95
IGL02432:Vmn2r4	APN	3	64406400	missense	probably benign	0.38
IGL02533:Vmn2r4	APN	3	64398419	nonsense	probably null
IGL02655:Vmn2r4	APN	3	64398465	missense	probably damaging	0.97
IGL02666:Vmn2r4	APN	3	64389012	missense	probably benign	0.10
IGL02902:Vmn2r4	APN	3	64406916	missense	probably benign	0.22
IGL03189:Vmn2r4	APN	3	64389168	missense	possibly damaging	0.89
IGL03250:Vmn2r4	APN	3	64406642	missense	probably damaging	1.00
IGL03271:Vmn2r4	APN	3	64398429	missense	probably benign	0.01
R0310:Vmn2r4	UTSW	3	64389434	nonsense	probably null
R0504:Vmn2r4	UTSW	3	64389363	missense	probably damaging	1.00
R1546:Vmn2r4	UTSW	3	64406888	missense	probably damaging	1.00
R1562:Vmn2r4	UTSW	3	64389444	missense	probably damaging	0.98
R1863:Vmn2r4	UTSW	3	64406989	missense	probably benign	0.33
R1873:Vmn2r4	UTSW	3	64391058	missense	possibly damaging	0.93
R1939:Vmn2r4	UTSW	3	64398555	missense	probably benign	0.00
R2103:Vmn2r4	UTSW	3	64415283	missense	possibly damaging	0.48
R3083:Vmn2r4	UTSW	3	64389367	missense	probably damaging	1.00
R3687:Vmn2r4	UTSW	3	64389475	missense	possibly damaging	0.93
R3707:Vmn2r4	UTSW	3	64389474	missense	probably damaging	0.99
R3963:Vmn2r4	UTSW	3	64415151	missense	probably damaging	0.99
R4428:Vmn2r4	UTSW	3	64415169	missense	probably damaging	1.00
R4710:Vmn2r4	UTSW	3	64409780	critical splice donor site	probably null
R4737:Vmn2r4	UTSW	3	64409963	missense	probably damaging	1.00
R4767:Vmn2r4	UTSW	3	64390976	missense	probably damaging	0.99
R4776:Vmn2r4	UTSW	3	64388661	missense	probably damaging	0.96
R4834:Vmn2r4	UTSW	3	64410063	missense	probably benign	0.40
R4893:Vmn2r4	UTSW	3	64406255	missense	probably damaging	0.96
R4908:Vmn2r4	UTSW	3	64389055	missense	possibly damaging	0.59
R5049:Vmn2r4	UTSW	3	64398598	splice site	probably null
R5092:Vmn2r4	UTSW	3	64390952	missense	probably benign	0.01
R5234:Vmn2r4	UTSW	3	64398457	missense	possibly damaging	0.88
R5240:Vmn2r4	UTSW	3	64406937	missense	possibly damaging	0.53
R5704:Vmn2r4	UTSW	3	64409949	missense	probably benign	0.03
R5897:Vmn2r4	UTSW	3	64415266	nonsense	probably null
R5907:Vmn2r4	UTSW	3	64391066	missense	probably damaging	0.99
R5924:Vmn2r4	UTSW	3	64389264	missense	probably damaging	1.00
R6145:Vmn2r4	UTSW	3	64406943	missense	probably benign	0.00
R6191:Vmn2r4	UTSW	3	64415281	missense	probably benign	0.34
R6192:Vmn2r4	UTSW	3	64415278	missense	probably benign	0.00
R6457:Vmn2r4	UTSW	3	64409957	missense	probably damaging	1.00
R6533:Vmn2r4	UTSW	3	64415098	missense	probably benign
R6545:Vmn2r4	UTSW	3	64406356	missense	possibly damaging	0.50
R6594:Vmn2r4	UTSW	3	64389310	missense	probably damaging	1.00
R7049:Vmn2r4	UTSW	3	64389129	missense	probably benign	0.14
R7150:Vmn2r4	UTSW	3	64398477	missense	probably benign	0.01
R7187:Vmn2r4	UTSW	3	64415260	missense	probably benign	0.00
R7363:Vmn2r4	UTSW	3	64407011	missense	probably damaging	1.00
R7477:Vmn2r4	UTSW	3	64398429	missense	probably benign	0.01
R7675:Vmn2r4	UTSW	3	64415236	missense	probably benign	0.01
R7858:Vmn2r4	UTSW	3	64409805	missense	probably benign	0.00
R7888:Vmn2r4	UTSW	3	64406522	missense	probably damaging	0.99
R8678:Vmn2r4	UTSW	3	64406970	missense	probably benign
R8743:Vmn2r4	UTSW	3	64409826	missense	possibly damaging	0.95
R8841:Vmn2r4	UTSW	3	64406637	missense	probably damaging	0.97
R9671:Vmn2r4	UTSW	3	64409850	missense	probably benign	0.00
R9778:Vmn2r4	UTSW	3	64415076	missense	probably benign	0.15
X0019:Vmn2r4	UTSW	3	64406636	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTCCTCTCCAGTGCAGAG -3'
(R):5'- CCACTGCCAAAGTCATTGTG -3'

Sequencing Primer
(F):5'- GCTGATCAGACATGTCATACAGTCTG -3'
(R):5'- TTATGCAACTGACATTGACCTCAGC -3'

Posted On

2018-02-27