Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Olfr1338'

191265

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R1719 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118751975-118758737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118753600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 315 (W315R)

Ref Sequence

ENSEMBL: ENSMUSP00000149843 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084315
AA Change: W313R

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: W313R

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

possibly damaging
Transcript: ENSMUST00000214922
AA Change: W315R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216559
AA Change: W315R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,248,206	M459K	probably damaging	Het
A1cf	A	T	19: 31,927,126	K263M	probably damaging	Het
Adam26a	G	A	8: 43,570,036	T139M	possibly damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap9	C	T	5: 3,957,645	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,324,604	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cblc	A	T	7: 19,790,474	D280E	probably benign	Het
Cdk11b	T	C	4: 155,648,397		probably benign	Het
Cela2a	G	T	4: 141,817,946	F239L	probably damaging	Het
Cfap57	A	T	4: 118,606,631	C342S	probably benign	Het
Clca4a	C	A	3: 144,963,755	W345L	probably damaging	Het
Col6a5	T	C	9: 105,931,293	D852G	unknown	Het
Cyp4a32	T	C	4: 115,611,308	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,175,495	P287S	probably damaging	Het
Dmxl1	T	A	18: 49,934,637	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,200,747	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,643,936	Y56*	probably null	Het
Duox1	T	C	2: 122,338,644	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 184,037,225	S129R	probably benign	Het
Epcam	G	A	17: 87,642,128	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,220,650	E384G	probably damaging	Het
Exosc10	A	T	4: 148,568,503	D525V	probably damaging	Het
Fam186a	T	A	15: 99,942,346	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 109,148,174	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,457,397	E568G	probably damaging	Het
Fmn2	C	T	1: 174,608,458		probably benign	Het
Fut9	A	G	4: 25,619,744	F357L	possibly damaging	Het
Gas2l1	G	A	11: 5,064,266	H65Y	probably damaging	Het
Gjd2	A	T	2: 114,013,133	M1K	probably null	Het
Gm12169	T	C	11: 46,526,294	L13P	probably damaging	Het
Gm884	T	A	11: 103,617,071		probably benign	Het
Hdgfl3	T	C	7: 81,899,684	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,354,721	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,398,799	S223C	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Knl1	T	A	2: 119,071,738	W1307R	probably benign	Het
Kpna3	A	G	14: 61,387,477	L139P	probably damaging	Het
Lama3	T	C	18: 12,479,872		probably null	Het
Lin54	G	A	5: 100,485,249	P192L	possibly damaging	Het
Lpo	T	A	11: 87,809,192		probably null	Het
Lrrd1	T	G	5: 3,850,483		probably null	Het
Nbas	T	A	12: 13,560,977		probably null	Het
Nemp1	G	A	10: 127,696,248	G341D	probably damaging	Het
Nrp1	T	C	8: 128,425,885	F192L	probably damaging	Het
Nufip2	T	A	11: 77,693,090	V610E	probably damaging	Het
Nup160	T	G	2: 90,700,436	Y479*	probably null	Het
Oas1d	A	T	5: 120,919,962	D323V	possibly damaging	Het
Olfr125	A	G	17: 37,835,353	D118G	possibly damaging	Het
Olfr140	T	C	2: 90,051,784	Y180C	probably damaging	Het
Olfr147	G	A	9: 38,403,254	V127M	possibly damaging	Het
Olfr204	T	A	16: 59,314,706	R234*	probably null	Het
Olfr25	A	T	9: 38,330,507	T307S	probably benign	Het
Olfr677	C	A	7: 105,056,794	H183N	probably damaging	Het
Pcm1	T	A	8: 41,313,359	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,443,896	V215A	probably benign	Het
Phf12	T	A	11: 78,023,601	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,753,743	E537G	probably null	Het
Plxna2	C	T	1: 194,644,370	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,524,063	M236L	probably benign	Het
Qrsl1	A	T	10: 43,896,030	S55T	probably damaging	Het
Rbm5	T	C	9: 107,743,913		probably null	Het
Sipa1l2	A	G	8: 125,444,535	S1403P	probably damaging	Het
Sis	C	T	3: 72,965,604	C67Y	probably damaging	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Sprtn	C	A	8: 124,901,633	H154Q	probably damaging	Het
St7l	A	G	3: 104,870,987	T147A	probably benign	Het
Stab1	G	A	14: 31,146,028	Q1630*	probably null	Het
Stpg2	A	G	3: 139,232,199	D173G	probably benign	Het
Tcf20	G	A	15: 82,852,777	T1491I	probably benign	Het
Themis2	A	T	4: 132,789,649	I180N	possibly damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Ttn	C	T	2: 76,745,634	V24972M	probably damaging	Het
Ttn	A	G	2: 76,807,996	V13980A	probably damaging	Het
Usp5	A	T	6: 124,823,460	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,637,843	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,621,227	C534G	probably damaging	Het
Wdr60	T	C	12: 116,255,912	I137V	probably benign	Het
Wnk2	C	T	13: 49,060,726	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,852,642	P745S	probably damaging	Het
Zfp957	C	T	14: 79,213,996	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,401,327	E220G	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
R1301:Olfr1338	UTSW	4	118753619	missense	probably benign
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

2014-05-14