Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Olfr1238'

517910

Institutional Source

Beutler Lab

Gene Symbol

Olfr1238

Ensembl Gene

ENSMUSG00000111517

Gene Name

olfactory receptor 1238

Synonyms

MOR231-11, GA_x6K02T2Q125-50849945-50848998

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89401991-89409676 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89406522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 186 (A186S)

Ref Sequence

ENSEMBL: ENSMUSP00000150367 (fasta)

Gene Model

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

AlphaFold

Q8VG59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099781
AA Change: A186S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: A186S

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

possibly damaging
Transcript: ENSMUST00000217226
AA Change: A186S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217237
AA Change: A186S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,707,891	R6L	unknown	Het
Anxa11	A	G	14: 25,874,270	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,308,239	M1K	probably null	Het
Atl2	G	A	17: 79,850,223	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378	T1965A	probably benign	Het
Ftl1	A	T	7: 45,459,210	D41E	probably benign	Het
Garem2	G	A	5: 30,116,737	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080	Y291*	probably null	Het
Olfr331	T	C	11: 58,502,340	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr952	T	A	9: 39,426,891	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,022,448	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169		probably null	Het
Pi4ka	T	C	16: 17,358,322	I418V	probably benign	Het
Pih1d2	T	C	9: 50,618,609	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287		probably null	Het
Rbak	G	T	5: 143,176,552	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139	S150P	probably damaging	Het
Tjp1	C	T	7: 65,313,205	D995N	possibly damaging	Het
Tmem135	T	A	7: 89,147,794	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981	T114A	probably benign	Het
Tnc	A	G	4: 64,007,816	I909T	probably benign	Het
Trcg1	A	G	9: 57,241,330	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,356,031	*487K	probably null	Het
Unc79	T	A	12: 103,131,646	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639	V194G	probably damaging	Het
Zfp260	A	T	7: 30,104,810	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,593,720	H292L	possibly 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
R4749: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
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'- GGGAAAGTTAGACACTGGCCTAAC -3'
(R):5'- TTTGACCATCATGAACCGGC -3'

Sequencing Primer
(F):5'- TGGCCTAACATAAATAAAAATGCAGG -3'
(R):5'- CATCATGAACCGGCAGATTTG -3'

Posted On

2018-05-24