Mutagenetix > Incidental Mutation

Incidental Mutation 'R4749:Olfr1238'

357358

Institutional Source

Beutler Lab

Gene Symbol

Olfr1238

Ensembl Gene

ENSMUSG00000111517

Gene Name

olfactory receptor 1238

Synonyms

MOR231-11, GA_x6K02T2Q125-50849945-50848998

MMRRC Submission

041969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89401991-89409676 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89406255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 275 (V275I)

Ref Sequence

ENSEMBL: ENSMUSP00000150367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099781] [ENSMUST00000217226] [ENSMUST00000217237]

AlphaFold

Q8VG59

Predicted Effect

probably benign
Transcript: ENSMUST00000099781
AA Change: V275I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: V275I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	7.7e-46	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.1e-5	PFAM
Pfam:7tm_1	39	285	6.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215283

Predicted Effect

probably benign
Transcript: ENSMUST00000217226
AA Change: V275I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000217237
AA Change: V275I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,215,721	D79E	probably benign	Het
Adgra2	A	G	8: 27,114,197	K472E	probably damaging	Het
Akap9	A	G	5: 3,968,737	D1106G	probably benign	Het
Arhgap35	T	C	7: 16,498,626	E1367G	possibly damaging	Het
Arsi	A	T	18: 60,917,461	Y472F	probably benign	Het
Asxl3	A	G	18: 22,516,769	D605G	probably damaging	Het
Atp6v1e2	C	T	17: 86,944,707	D88N	probably benign	Het
BC061237	T	A	14: 44,506,012	V169E	probably damaging	Het
C1galt1	A	G	6: 7,866,379	E75G	probably benign	Het
C530008M17Rik	T	C	5: 76,858,834	V1014A	unknown	Het
C9	G	A	15: 6,489,830	V383I	probably benign	Het
Ccdc88a	A	G	11: 29,482,720	K222R	probably benign	Het
Ccna2	T	C	3: 36,566,242	S421G	probably benign	Het
Cflar	T	G	1: 58,740,272	V229G	possibly damaging	Het
Clcn1	A	G	6: 42,290,197		probably null	Het
Col14a1	T	A	15: 55,452,336	F1342L	unknown	Het
Colq	C	T	14: 31,529,515	R313H	possibly damaging	Het
Coro6	A	G	11: 77,469,148	E345G	probably damaging	Het
Cyb561	A	G	11: 105,935,882	F182L	probably benign	Het
Dap3	A	G	3: 88,926,310	S317P	probably benign	Het
Dnah9	G	A	11: 65,834,115	A4404V	probably damaging	Het
Dsg4	A	G	18: 20,446,831	E31G	possibly damaging	Het
Dsn1	G	A	2: 157,001,740	L147F	probably damaging	Het
Dysf	T	C	6: 84,067,008	V277A	probably damaging	Het
Eprs	T	A	1: 185,396,130	I569K	probably damaging	Het
Erg	T	C	16: 95,361,170	N342S	probably damaging	Het
Fam114a1	G	A	5: 65,009,066	D247N	probably damaging	Het
Fat2	A	G	11: 55,311,468	V260A	probably benign	Het
Foxn4	T	C	5: 114,255,567	D497G	probably damaging	Het
Fsip2	A	G	2: 82,989,285	I5121V	probably benign	Het
Gcn1l1	T	A	5: 115,614,402	D2155E	probably benign	Het
Glra1	C	A	11: 55,536,384	D42Y	probably damaging	Het
Gpr171	A	G	3: 59,097,466	V296A	probably benign	Het
Grid1	T	A	14: 35,580,687	S970T	possibly damaging	Het
Hcn3	A	T	3: 89,150,063		probably null	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Hsd3b3	G	A	3: 98,742,615	P131S	probably damaging	Het
Hsp90b1	A	G	10: 86,701,808	V211A	probably damaging	Het
Htr2c	A	G	X: 147,193,797	T163A	probably benign	Het
Ifi208	T	A	1: 173,695,614	D483E	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,287	V474E	possibly damaging	Het
Kif21b	T	A	1: 136,144,749	Y64*	probably null	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Map3k10	T	C	7: 27,658,361	D664G	possibly damaging	Het
Map3k5	C	A	10: 20,132,052	S1201Y	probably benign	Het
Mcm2	T	C	6: 88,891,991	E293G	possibly damaging	Het
Med21	T	A	6: 146,650,101		probably null	Het
Mettl18	T	C	1: 163,996,785	V225A	probably benign	Het
Mmp10	A	T	9: 7,508,168	I432F	probably damaging	Het
Muc5b	T	G	7: 141,861,448	Y2710*	probably null	Het
Neurl4	A	T	11: 69,911,068	I1282F	probably benign	Het
Nipbl	A	T	15: 8,365,829	H191Q	possibly damaging	Het
Nktr	A	G	9: 121,741,693	D167G	probably damaging	Het
Nrap	A	G	19: 56,380,237	I249T	probably damaging	Het
Nsfl1c	A	G	2: 151,509,606	T297A	probably benign	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr1163	T	A	2: 88,070,612	I257L	probably benign	Het
Olfr1449	C	T	19: 12,935,217	H160Y	probably benign	Het
Olfr20	G	A	11: 73,354,496	V248M	probably damaging	Het
Olfr731	A	G	14: 50,238,733	S51P	probably damaging	Het
Pcnx2	T	C	8: 125,887,588	S375G	probably damaging	Het
Phf2	A	T	13: 48,821,709		probably null	Het
Piezo1	A	T	8: 122,486,939	M1739K	possibly damaging	Het
Piezo1	G	T	8: 122,498,206	Q654K	probably damaging	Het
Pml	C	T	9: 58,234,652	R299H	probably damaging	Het
Ppp3cb	A	T	14: 20,524,062	M236K	probably damaging	Het
Prkch	T	A	12: 73,692,960	C203S	probably damaging	Het
Prob1	C	T	18: 35,652,816	R795H	possibly damaging	Het
Prr22	G	C	17: 56,771,274	E142D	possibly damaging	Het
Prss56	C	A	1: 87,185,583	A211E	possibly damaging	Het
Qser1	A	C	2: 104,787,304	S1054R	probably benign	Het
Rhbdl2	T	C	4: 123,826,901		probably null	Het
Rhot2	C	A	17: 25,844,274	G19V	probably damaging	Het
Rp1l1	C	T	14: 64,029,800	T945M	probably damaging	Het
Ryr3	T	C	2: 112,964,405	T121A	possibly damaging	Het
Sdad1	C	T	5: 92,304,977	R134Q	possibly damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sharpin	T	A	15: 76,347,567	D314V	probably damaging	Het
Slc14a2	A	T	18: 78,155,581	L778Q	probably damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc4a11	C	A	2: 130,690,867	R222L	probably damaging	Het
Slc7a10	C	T	7: 35,200,762	P502S	probably damaging	Het
Sort1	T	G	3: 108,356,323	Y812*	probably null	Het
Spata31d1b	G	A	13: 59,718,358	V1107M	probably damaging	Het
Tcp10b	G	A	17: 13,070,945		probably null	Het
Tmem8	T	C	17: 26,116,783	F48S	probably damaging	Het
Tnc	T	C	4: 63,995,639	D1312G	possibly damaging	Het
Tomm40l	G	A	1: 171,219,562	R296*	probably null	Het
Topors	A	T	4: 40,261,015	S756R	unknown	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Ube2o	T	C	11: 116,541,908	D744G	probably benign	Het
Vmn1r224	A	G	17: 20,419,751	I197V	probably benign	Het
Zc3h18	A	T	8: 122,383,643	D77V	probably damaging	Het

Other mutations in Olfr1238

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Olfr1238	APN	2	89406331	missense	possibly damaging	0.95
IGL01648:Olfr1238	APN	2	89406191	missense	probably damaging	0.99
IGL03005:Olfr1238	APN	2	89406971	missense	possibly damaging	0.95
R0450:Olfr1238	UTSW	2	89406791	missense	probably damaging	0.99
R0469:Olfr1238	UTSW	2	89406791	missense	probably damaging	0.99
R0510:Olfr1238	UTSW	2	89406791	missense	probably damaging	0.99
R1983:Olfr1238	UTSW	2	89406426	missense	probably benign	0.00
R4183:Olfr1238	UTSW	2	89406591	missense	probably benign
R4737:Olfr1238	UTSW	2	89406486	missense	probably benign	0.05
R4748:Olfr1238	UTSW	2	89406255	missense	probably benign	0.02
R4969:Olfr1238	UTSW	2	89406426	missense	probably benign	0.00
R5047:Olfr1238	UTSW	2	89406713	missense	probably damaging	1.00
R5992:Olfr1238	UTSW	2	89406879	missense	probably benign	0.02
R6031:Olfr1238	UTSW	2	89406972	missense	probably damaging	1.00
R6031:Olfr1238	UTSW	2	89406972	missense	probably damaging	1.00
R6263:Olfr1238	UTSW	2	89406730	missense	possibly damaging	0.80
R6416:Olfr1238	UTSW	2	89406522	missense	possibly damaging	0.78
R7352:Olfr1238	UTSW	2	89406462	missense	probably benign	0.00
R7515:Olfr1238	UTSW	2	89406906	missense	possibly damaging	0.91
R7796:Olfr1238	UTSW	2	89406813	missense	possibly damaging	0.73
R7893:Olfr1238	UTSW	2	89407070	missense	probably benign	0.00
R8034:Olfr1238	UTSW	2	89406737	missense	probably benign	0.44
R8399:Olfr1238	UTSW	2	89406684	missense	probably benign	0.10
R8694:Olfr1238	UTSW	2	89407034	missense	probably damaging	1.00
R9085:Olfr1238	UTSW	2	89406297	missense	probably damaging	0.99
R9486:Olfr1238	UTSW	2	89406615	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TTTGCTAAAATCTGCTGGCTG -3'
(R):5'- AATGGTGGAGCAATCTGTATGG -3'

Sequencing Primer
(F):5'- GCTAAAATCTGCTGGCTGTCTATTAC -3'
(R):5'- AGCCTTATCCACTTGCAG -3'

Posted On

2015-11-11