Mutagenetix > Incidental Mutation

Incidental Mutation 'R8723:Vmn2r117'

662247

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8723 (G1)

Quality Score

141.008

Status

Not validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23477369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 355 (W355R)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171996]

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: W355R

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

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: W355R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	471	2.6e-28	PFAM
Pfam:NCD3G	512	565	5e-20	PFAM
Pfam:7tm_3	595	833	8.2e-54	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,105,691	Y122H	probably damaging	Het
Abca12	A	T	1: 71,321,738	H465Q	probably benign	Het
Adam29	T	C	8: 55,871,478	H647R	probably damaging	Het
Adamtsl4	C	T	3: 95,677,116	R990Q	possibly damaging	Het
Adgrg7	T	G	16: 56,761,919	R285S	probably benign	Het
Alkbh1	A	G	12: 87,438,508	V115A	probably benign	Het
Ankrd50	A	C	3: 38,457,304	F305V	probably damaging	Het
Anpep	A	G	7: 79,838,938	S414P	probably damaging	Het
Anxa3	A	G	5: 96,838,347	I282V	probably benign	Het
Aoah	T	G	13: 21,000,010	Y415D	possibly damaging	Het
Cacna1b	A	G	2: 24,658,498	V1188A	probably damaging	Het
Cnot1	A	G	8: 95,736,279	I1651T	probably benign	Het
Col6a3	C	G	1: 90,767,606		probably benign	Het
Ctnnd1	G	A	2: 84,620,040	P279S	probably benign	Het
Dnah10	A	T	5: 124,814,621	E3298V	probably damaging	Het
Ear14	C	T	14: 51,204,056	T123I	possibly damaging	Het
Elf3	A	G	1: 135,257,647	L43P	possibly damaging	Het
Exoc3l4	T	A	12: 111,430,658		probably benign	Het
Figla	A	G	6: 86,020,742	T151A	probably benign	Het
Fsd1l	A	G	4: 53,647,001	E56G	unknown	Het
Gm49359	A	T	13: 62,454,596	H263Q	probably damaging	Het
Gprc6a	A	T	10: 51,615,422	C744S	probably damaging	Het
Grhl1	G	A	12: 24,612,245		probably benign	Het
Gtf2h5	C	CA	17: 6,084,558		probably null	Het
Itih3	T	A	14: 30,908,804	Q850L	probably damaging	Het
Kcnq5	A	G	1: 21,505,367	V285A	probably damaging	Het
Klc4	T	G	17: 46,640,700	E165A	probably benign	Het
Lrp2	T	C	2: 69,486,304	Y2111C	probably damaging	Het
Lyst	A	G	13: 13,712,757	E3057G	possibly damaging	Het
Macf1	G	A	4: 123,455,117	Q4006*	probably null	Het
Map4k1	G	A	7: 28,987,117	D155N	probably damaging	Het
Myh14	A	G	7: 44,622,983	F1466S	probably damaging	Het
Nrip1	T	C	16: 76,292,665	D668G	probably damaging	Het
Olfr1047	A	T	2: 86,228,442	H176Q	probably damaging	Het
Olfr1141	T	C	2: 87,753,157	T279A	possibly damaging	Het
P2rx1	C	A	11: 73,008,930	N120K	probably benign	Het
Pif1	T	A	9: 65,594,391	M569K	probably damaging	Het
Prkd2	G	A	7: 16,857,777	V578I	possibly damaging	Het
Rhobtb1	A	G	10: 69,270,271	Y284C	probably damaging	Het
Rps6kb1	T	C	11: 86,519,931	T164A	possibly damaging	Het
Rxfp1	T	C	3: 79,650,495	T559A	probably benign	Het
Sag	G	A	1: 87,823,453		probably null	Het
Smoc1	G	A	12: 81,135,812	V138I	possibly damaging	Het
Spag5	T	A	11: 78,321,389	I1081N	probably damaging	Het
Stk25	A	G	1: 93,625,944	I203T	probably damaging	Het
Strip2	T	A	6: 29,941,864	V611E	probably damaging	Het
Sulf1	A	T	1: 12,786,687	D54V	probably damaging	Het
Tacr2	A	G	10: 62,258,328	D188G	probably damaging	Het
Tmem237	A	T	1: 59,106,572	Y358N	probably damaging	Het
Trim27	A	C	13: 21,190,637		probably benign	Het
Tsen34	A	G	7: 3,695,150	E139G	probably benign	Het
Ttc39a	T	A	4: 109,443,503		probably benign	Het
Tubgcp3	A	T	8: 12,621,899	I781N	probably damaging	Het
Uqcc1	C	T	2: 155,887,180	W21*	probably null	Het
Vmn2r89	T	C	14: 51,456,453	V420A	probably benign	Het
Zdhhc21	A	T	4: 82,844,202	I52K	probably benign	Het

Other mutations in Vmn2r117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r117	APN	17	23477840	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23475429	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23479546	missense	probably benign
IGL01078:Vmn2r117	APN	17	23477804	missense	probably damaging	1.00
IGL01139:Vmn2r117	APN	17	23477804	missense	probably damaging	1.00
IGL01374:Vmn2r117	APN	17	23478382	missense	possibly damaging	0.46
IGL01779:Vmn2r117	APN	17	23477241	missense	probably benign	0.00
IGL02283:Vmn2r117	APN	17	23475382	missense	probably damaging	0.99
IGL02527:Vmn2r117	APN	17	23477225	missense	possibly damaging	0.65
IGL02612:Vmn2r117	APN	17	23459784	missense	possibly damaging	0.91
IGL02887:Vmn2r117	APN	17	23475578	splice site	probably benign
IGL03167:Vmn2r117	APN	17	23477707	missense	probably damaging	1.00
R0315:Vmn2r117	UTSW	17	23460165	missense	probably benign	0.11
R0610:Vmn2r117	UTSW	17	23475514	missense	probably benign	0.00
R0747:Vmn2r117	UTSW	17	23475503	nonsense	probably null
R1411:Vmn2r117	UTSW	17	23460553	missense	probably damaging	1.00
R1471:Vmn2r117	UTSW	17	23478473	missense	probably benign	0.00
R1853:Vmn2r117	UTSW	17	23477455	missense	probably damaging	0.99
R1925:Vmn2r117	UTSW	17	23478389	missense	probably benign	0.00
R1940:Vmn2r117	UTSW	17	23477480	missense	probably damaging	1.00
R2005:Vmn2r117	UTSW	17	23477644	missense	probably damaging	1.00
R2082:Vmn2r117	UTSW	17	23460256	missense	possibly damaging	0.55
R2698:Vmn2r117	UTSW	17	23459911	missense	probably damaging	0.98
R2972:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R2973:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R2974:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R3160:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3161:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3162:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3847:Vmn2r117	UTSW	17	23460415	missense	probably damaging	0.97
R3848:Vmn2r117	UTSW	17	23460415	missense	probably damaging	0.97
R4082:Vmn2r117	UTSW	17	23460106	missense	probably benign	0.00
R4320:Vmn2r117	UTSW	17	23479513	frame shift	probably null
R4560:Vmn2r117	UTSW	17	23459877	missense	probably damaging	1.00
R4658:Vmn2r117	UTSW	17	23478416	missense	probably benign	0.01
R4881:Vmn2r117	UTSW	17	23477885	missense	probably damaging	1.00
R4908:Vmn2r117	UTSW	17	23459838	missense	probably damaging	1.00
R4910:Vmn2r117	UTSW	17	23479513	frame shift	probably null
R5078:Vmn2r117	UTSW	17	23460148	missense	probably damaging	1.00
R5327:Vmn2r117	UTSW	17	23477874	nonsense	probably null
R5774:Vmn2r117	UTSW	17	23477202	missense	probably damaging	0.98
R6014:Vmn2r117	UTSW	17	23479561	missense	probably damaging	0.97
R6390:Vmn2r117	UTSW	17	23460114	missense	possibly damaging	0.95
R6520:Vmn2r117	UTSW	17	23460219	missense	probably damaging	0.99
R6674:Vmn2r117	UTSW	17	23460049	nonsense	probably null
R6736:Vmn2r117	UTSW	17	23478308	missense	probably damaging	0.99
R6909:Vmn2r117	UTSW	17	23479505	missense	possibly damaging	0.67
R6913:Vmn2r117	UTSW	17	23479563	missense	probably damaging	0.99
R7220:Vmn2r117	UTSW	17	23477203	missense	probably damaging	1.00
R7260:Vmn2r117	UTSW	17	23475385	missense	probably benign	0.06
R7440:Vmn2r117	UTSW	17	23475565	missense	probably benign	0.26
R7443:Vmn2r117	UTSW	17	23460133	missense	probably benign	0.25
R7443:Vmn2r117	UTSW	17	23460345	missense	probably damaging	1.00
R7449:Vmn2r117	UTSW	17	23459895	missense	probably damaging	1.00
R7644:Vmn2r117	UTSW	17	23477291	missense	probably damaging	0.98
R7914:Vmn2r117	UTSW	17	23460126	missense	possibly damaging	0.95
R8001:Vmn2r117	UTSW	17	23479407	missense	possibly damaging	0.89
R8029:Vmn2r117	UTSW	17	23477770	missense	probably benign	0.00
R8340:Vmn2r117	UTSW	17	23460537	missense	probably benign	0.01
R8519:Vmn2r117	UTSW	17	23479468	missense	probably benign
R8914:Vmn2r117	UTSW	17	23460169	missense	probably benign	0.02
R9010:Vmn2r117	UTSW	17	23460471	missense	probably benign	0.10
R9129:Vmn2r117	UTSW	17	23459944	nonsense	probably null
R9244:Vmn2r117	UTSW	17	23477615	missense	probably damaging	0.98
R9464:Vmn2r117	UTSW	17	23477604	missense	probably benign	0.23
R9620:Vmn2r117	UTSW	17	23478476	missense	probably damaging	0.97
V5622:Vmn2r117	UTSW	17	23477840	missense	probably damaging	1.00
V5622:Vmn2r117	UTSW	17	23479505	missense	possibly damaging	0.67
Z1176:Vmn2r117	UTSW	17	23459766	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTATCTGATGGAGTGCATGGGC -3'
(R):5'- GACAGTACCTTAGCTGTGAGC -3'

Sequencing Primer
(F):5'- TGGGCAAAAGCATACACAGCATTG -3'
(R):5'- CTCTAGGAATACAGAGACTATGGATC -3'

Posted On

2021-03-08