Mutagenetix > Incidental Mutation

Incidental Mutation 'R1301:Olfr1338'

158355

Institutional Source

Beutler Lab

Gene Symbol

Olfr1338

Ensembl Gene

ENSMUSG00000095218

Gene Name

olfactory receptor 1338

Synonyms

MOR259-9, GA_x6K02T2QD9B-18795136-18796077, MOR259-4P, MOR259-4P, Olfr1524-ps1

MMRRC Submission

039367-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R1301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118751975-118758737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118753619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 308 (M308I)

Ref Sequence

ENSEMBL: ENSMUSP00000149843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084315] [ENSMUST00000214922] [ENSMUST00000216559]

AlphaFold

A0A1L1SSB4

Predicted Effect

probably benign
Transcript: ENSMUST00000084315
AA Change: M306I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: M306I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	3.3e-55	PFAM
Pfam:7TM_GPCR_Srsx	36	306	1e-8	PFAM
Pfam:7tm_1	42	291	1.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214922
AA Change: M308I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216559
AA Change: M308I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	A	G	7: 144,633,689	W447R	possibly damaging	Het
Blm	T	A	7: 80,455,417	K103*	probably null	Het
Camta2	A	G	11: 70,676,404	I675T	probably benign	Het
Catsperz	G	A	19: 6,925,082	R15C	probably damaging	Het
Chd1l	T	C	3: 97,603,648		probably benign	Het
Corin	C	A	5: 72,304,933	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 107,080,907	M127R	probably damaging	Het
Dcdc2a	A	T	13: 25,102,586	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,208,545		probably null	Het
Emilin2	T	C	17: 71,255,965		probably benign	Het
Epb41l2	T	A	10: 25,443,902	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,868,601	M166I	probably benign	Het
Gm13124	T	A	4: 144,565,065	I24L	probably benign	Het
Gm4450	G	A	3: 98,446,866	Q106*	probably null	Het
Golm1	T	C	13: 59,638,373	D335G	probably damaging	Het
Gpn1	T	A	5: 31,503,429	M188K	probably damaging	Het
Gpr84	T	A	15: 103,309,219	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,201	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,867,059		probably null	Het
Hmgcr	G	A	13: 96,659,020	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,961,205		probably benign	Het
Klhl7	T	G	5: 24,159,491	W508G	probably damaging	Het
Lrp2	C	A	2: 69,428,604	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 158,135,331	N1357D	probably benign	Het
Macf1	T	C	4: 123,486,658		probably benign	Het
Mroh7	T	C	4: 106,720,495	T329A	probably damaging	Het
Mroh9	C	T	1: 163,043,983		probably null	Het
Mta2	A	G	19: 8,949,186		probably benign	Het
Myo3a	A	T	2: 22,267,095		probably benign	Het
Nrip2	A	G	6: 128,407,389	D153G	probably benign	Het
Nup133	T	C	8: 123,917,417		probably benign	Het
Nup210	C	T	6: 91,042,347	V259M	possibly damaging	Het
Olfr1466	A	T	19: 13,341,847	I30F	probably benign	Het
Olfr1499	A	T	19: 13,815,362	V76D	probably damaging	Het
Otog	C	T	7: 46,289,689	R2048C	probably damaging	Het
Paqr7	T	C	4: 134,507,813	L327P	probably damaging	Het
Parl	A	G	16: 20,286,926	S249P	probably damaging	Het
Phc1	A	G	6: 122,325,874	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,110,831		probably null	Het
Plpp1	A	G	13: 112,834,943	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,628,887	F194L	probably benign	Het
Rp1	A	T	1: 4,345,936	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 32,896,960	R47*	probably null	Het
Sis	T	C	3: 72,946,582	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,282,478	D209G	probably benign	Het
Slc26a4	A	T	12: 31,525,568	C706*	probably null	Het
Slc37a2	A	G	9: 37,236,881	V325A	probably benign	Het
Speg	T	A	1: 75,401,501	D784E	probably damaging	Het
Sycp1	T	C	3: 102,920,622	I270V	probably benign	Het
Tatdn2	T	A	6: 113,704,115	F309I	probably damaging	Het
Tmem206	T	C	1: 191,348,435	V284A	probably damaging	Het
Tmem67	T	C	4: 12,089,400		probably benign	Het
Trpm1	T	A	7: 64,203,053		probably null	Het
Wrn	T	C	8: 33,292,686	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,063,397	V2299A	probably benign	Het
Zfp819	T	A	7: 43,617,100	S260T	possibly damaging	Het

Other mutations in Olfr1338

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Olfr1338	APN	4	118753762	missense	possibly damaging	0.78
IGL02726:Olfr1338	APN	4	118753764	missense	probably benign	0.00
IGL02928:Olfr1338	APN	4	118754500	missense	probably damaging	1.00
IGL03102:Olfr1338	APN	4	118753934	missense	probably benign	0.00
R0062:Olfr1338	UTSW	4	118753903	missense	probably benign	0.00
R0062:Olfr1338	UTSW	4	118753903	missense	probably benign	0.00
R0299:Olfr1338	UTSW	4	118754535	start codon destroyed	probably null	0.82
R0501:Olfr1338	UTSW	4	118753830	missense	probably benign	0.00
R1719:Olfr1338	UTSW	4	118753600	missense	possibly damaging	0.78
R2327:Olfr1338	UTSW	4	118754134	missense	probably benign	0.13
R3110:Olfr1338	UTSW	4	118754224	missense	probably damaging	0.99
R3112:Olfr1338	UTSW	4	118754224	missense	probably damaging	0.99
R4582:Olfr1338	UTSW	4	118753893	missense	probably damaging	1.00
R4615:Olfr1338	UTSW	4	118754137	missense	probably benign	0.34
R5640:Olfr1338	UTSW	4	118753789	missense	probably benign	0.07
R6513:Olfr1338	UTSW	4	118754027	nonsense	probably null
R6889:Olfr1338	UTSW	4	118754307	missense	probably damaging	0.99
R7157:Olfr1338	UTSW	4	118754418	missense	possibly damaging	0.93
R7168:Olfr1338	UTSW	4	118753851	missense	probably damaging	0.98
R7378:Olfr1338	UTSW	4	118754175	missense	possibly damaging	0.74
R7451:Olfr1338	UTSW	4	118753687	missense	probably benign	0.03
R7770:Olfr1338	UTSW	4	118754057	missense	probably benign	0.04
R7847:Olfr1338	UTSW	4	118754368	missense	possibly damaging	0.79
R8839:Olfr1338	UTSW	4	118754214	missense	probably damaging	0.99
R8942:Olfr1338	UTSW	4	118754397	missense	possibly damaging	0.94
R9274:Olfr1338	UTSW	4	118753686	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCCAGCAGGATGACTGATGTGTTTG -3'
(R):5'- ACCCACCTCATTGAGATGGTGGAC -3'

Sequencing Primer
(F):5'- GGGATTGTACCTTATGTACCTTGTC -3'
(R):5'- GGCAATTCTCAAGATCAAGTCC -3'

Posted On

2014-02-18