Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Olfr1338'

537092

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

044983-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118751975-118758737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118754307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 79 (T79I)

Ref Sequence

ENSEMBL: ENSMUSP00000149843 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000084315
AA Change: T77I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: T77I

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 damaging
Transcript: ENSMUST00000214922
AA Change: T79I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216559
AA Change: T79I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,943,053 (GRCm38)	D103E	probably benign	Het
Abcc3	A	T	11: 94,375,555 (GRCm38)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,029,183 (GRCm38)	Y214C	possibly damaging	Het
Azi2	A	G	9: 118,049,895 (GRCm38)		probably null	Het
BC067074	C	A	13: 113,318,378 (GRCm38)	S319R	probably damaging	Het
Cacnb2	T	A	2: 14,986,015 (GRCm38)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,374,562 (GRCm38)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,404,132 (GRCm38)	V68I	probably benign	Het
Eea1	G	T	10: 96,037,478 (GRCm38)	C1134F	probably benign	Het
Ehmt2	T	G	17: 34,912,772 (GRCm38)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,365,350 (GRCm38)	F531L	probably damaging	Het
Eme1	G	A	11: 94,650,477 (GRCm38)	T173I	probably benign	Het
Gli2	A	T	1: 118,844,416 (GRCm38)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,280,138 (GRCm38)	K186E	probably benign	Het
Gpr108	A	T	17: 57,236,990 (GRCm38)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,955,642 (GRCm38)	T135N	probably benign	Het
Hydin	G	A	8: 110,532,856 (GRCm38)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 18,179,800 (GRCm38)	R25L	probably benign	Het
Igsf10	A	C	3: 59,331,933 (GRCm38)	S276A	probably benign	Het
Kctd1	A	G	18: 14,973,988 (GRCm38)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,152,501 (GRCm38)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,625,063 (GRCm38)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,809,744 (GRCm38)		probably benign	Het
Myh15	A	G	16: 49,153,111 (GRCm38)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,944,109 (GRCm38)	F408S	probably benign	Het
Nrp1	T	C	8: 128,493,057 (GRCm38)	F652S	probably damaging	Het
Olfr487	A	T	7: 108,211,918 (GRCm38)	F204I	probably benign	Het
Olfr574	A	T	7: 102,948,768 (GRCm38)	H91L	possibly damaging	Het
Olfr821	T	C	10: 130,034,532 (GRCm38)	M302T	probably benign	Het
Opa1	G	T	16: 29,620,868 (GRCm38)	R792L	probably benign	Het
Pcdha6	G	T	18: 36,968,343 (GRCm38)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,196,970 (GRCm38)	Y347*	probably null	Het
Pdpr	G	T	8: 111,124,613 (GRCm38)		probably null	Het
Pigt	T	A	2: 164,507,331 (GRCm38)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,737,981 (GRCm38)	D591A	possibly damaging	Het
Prrg2	G	A	7: 45,059,989 (GRCm38)	T97M	possibly damaging	Het
Qars	A	G	9: 108,513,183 (GRCm38)	T428A	probably damaging	Het
Rai1	T	C	11: 60,185,715 (GRCm38)	F202L	probably damaging	Het
Rars	A	T	11: 35,808,486 (GRCm38)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925 (GRCm38)		probably benign	Het
Slc16a6	A	C	11: 109,455,040 (GRCm38)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,954,153 (GRCm38)	T330A	probably damaging	Het
Smc1b	A	T	15: 85,067,759 (GRCm38)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,251,470 (GRCm38)	A4S	possibly damaging	Het
Sv2b	A	C	7: 75,125,767 (GRCm38)		probably null	Het
Syt9	A	T	7: 107,425,286 (GRCm38)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,773,353 (GRCm38)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,944,300 (GRCm38)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,797,871 (GRCm38)	C3286S	probably damaging	Het
Vill	A	G	9: 119,065,882 (GRCm38)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,747,370 (GRCm38)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,117,267 (GRCm38)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,472,574 (GRCm38)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,601,142 (GRCm38)	V197A	probably benign	Het
Wasf1	A	T	10: 40,920,369 (GRCm38)	I32F	probably damaging	Het
Wasf2	G	T	4: 133,194,730 (GRCm38)	A387S	unknown	Het
Wdr92	G	A	11: 17,222,309 (GRCm38)	V133M	probably damaging	Het
Zbtb14	G	A	17: 69,387,679 (GRCm38)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm38)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,686,990 (GRCm38)	E882G	possibly damaging	Het

Other mutations in Olfr1338

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Olfr1338	APN	4	118,753,762 (GRCm38)	missense	possibly damaging	0.78
IGL02726:Olfr1338	APN	4	118,753,764 (GRCm38)	missense	probably benign	0.00
IGL02928:Olfr1338	APN	4	118,754,500 (GRCm38)	missense	probably damaging	1.00
IGL03102:Olfr1338	APN	4	118,753,934 (GRCm38)	missense	probably benign	0.00
R0062:Olfr1338	UTSW	4	118,753,903 (GRCm38)	missense	probably benign	0.00
R0062:Olfr1338	UTSW	4	118,753,903 (GRCm38)	missense	probably benign	0.00
R0299:Olfr1338	UTSW	4	118,754,535 (GRCm38)	start codon destroyed	probably null	0.82
R0501:Olfr1338	UTSW	4	118,753,830 (GRCm38)	missense	probably benign	0.00
R1301:Olfr1338	UTSW	4	118,753,619 (GRCm38)	missense	probably benign
R1719:Olfr1338	UTSW	4	118,753,600 (GRCm38)	missense	possibly damaging	0.78
R2327:Olfr1338	UTSW	4	118,754,134 (GRCm38)	missense	probably benign	0.13
R3110:Olfr1338	UTSW	4	118,754,224 (GRCm38)	missense	probably damaging	0.99
R3112:Olfr1338	UTSW	4	118,754,224 (GRCm38)	missense	probably damaging	0.99
R4582:Olfr1338	UTSW	4	118,753,893 (GRCm38)	missense	probably damaging	1.00
R4615:Olfr1338	UTSW	4	118,754,137 (GRCm38)	missense	probably benign	0.34
R5640:Olfr1338	UTSW	4	118,753,789 (GRCm38)	missense	probably benign	0.07
R6513:Olfr1338	UTSW	4	118,754,027 (GRCm38)	nonsense	probably null
R7157:Olfr1338	UTSW	4	118,754,418 (GRCm38)	missense	possibly damaging	0.93
R7168:Olfr1338	UTSW	4	118,753,851 (GRCm38)	missense	probably damaging	0.98
R7378:Olfr1338	UTSW	4	118,754,175 (GRCm38)	missense	possibly damaging	0.74
R7451:Olfr1338	UTSW	4	118,753,687 (GRCm38)	missense	probably benign	0.03
R7770:Olfr1338	UTSW	4	118,754,057 (GRCm38)	missense	probably benign	0.04
R7847:Olfr1338	UTSW	4	118,754,368 (GRCm38)	missense	possibly damaging	0.79
R8839:Olfr1338	UTSW	4	118,754,214 (GRCm38)	missense	probably damaging	0.99
R8942:Olfr1338	UTSW	4	118,754,397 (GRCm38)	missense	possibly damaging	0.94
R9274:Olfr1338	UTSW	4	118,753,686 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACAGTATAGCGCAGTGGATAGC -3'
(R):5'- GTTTCCAAGGCAGAACCAAAG -3'

Sequencing Primer
(F):5'- GTGGATAGCAAATTGCCACATACCG -3'
(R):5'- CCAAAGTTGGGTTTCAGAGTTCATCC -3'

Posted On

2018-10-18