Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Olfr748'

405325

Institutional Source

Beutler Lab

Gene Symbol

Olfr748

Ensembl Gene

ENSMUSG00000060084

Gene Name

olfactory receptor 748

Synonyms

GA_x6K02T2PMLR-6454789-6455712, MOR106-9P

MMRRC Submission

042877-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50707373-50713797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50710443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 38 (T38A)

Ref Sequence

ENSEMBL: ENSMUSP00000149491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073561] [ENSMUST00000213101]

AlphaFold

E9Q9Z0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073561
AA Change: T38A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073251
Gene: ENSMUSG00000060084
AA Change: T38A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.6e-52	PFAM
Pfam:7tm_1	41	290	2.8e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213101
AA Change: T38A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.3011

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,152,003		noncoding transcript	Het
Acaca	A	G	11: 84,391,519	E2154G	probably benign	Het
Acacb	T	C	5: 114,241,952	F2056L	probably damaging	Het
Aff1	A	G	5: 103,811,157		probably benign	Het
Amn1	T	A	6: 149,185,124		probably benign	Het
Arid1a	C	A	4: 133,691,055		probably benign	Het
Aste1	T	A	9: 105,402,705		probably null	Het
Asxl3	T	A	18: 22,516,439	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,988,048	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,628,766	L207P	probably damaging	Het
Baz2b	T	C	2: 59,978,602	H101R	probably benign	Het
Bicc1	G	A	10: 70,947,900	T387M	possibly damaging	Het
Champ1	A	C	8: 13,878,981	K380Q	probably damaging	Het
Cnst	A	G	1: 179,610,440	E523G	probably benign	Het
Cops6	G	C	5: 138,161,116		probably benign	Het
Cp	G	C	3: 19,966,316	V158L	probably benign	Het
Cyfip1	T	A	7: 55,873,483	M52K	possibly damaging	Het
Dars	A	T	1: 128,364,302	F480I	probably benign	Het
Diaph1	T	C	18: 37,897,580	M274V	unknown	Het
Diaph1	C	A	18: 37,897,550	E284*	probably null	Het
Dock8	G	A	19: 25,061,153	V68M	probably benign	Het
Elavl4	A	G	4: 110,211,430	F247L	possibly damaging	Het
Emc10	C	T	7: 44,496,439		probably benign	Het
Fbxw16	T	C	9: 109,436,644	D369G	probably benign	Het
Fgr	A	T	4: 132,997,500	D304V	probably benign	Het
Filip1l	G	A	16: 57,570,036	S91N	possibly damaging	Het
Gm884	A	G	11: 103,616,231		probably benign	Het
Haus8	A	G	8: 71,255,710	S103P	unknown	Het
Hscb	A	G	5: 110,834,792	L143P	probably damaging	Het
Hsd11b2	A	T	8: 105,523,297	M347L	probably benign	Het
Jrk	C	A	15: 74,707,336	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,121,832	Y123*	probably null	Het
Mis18bp1	A	C	12: 65,157,043	M59R	probably damaging	Het
Mrps27	T	C	13: 99,409,873	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,427,794	V488L	possibly damaging	Het
Nepn	A	T	10: 52,400,800	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,517,506		probably null	Het
Olfr248	A	T	1: 174,391,225	Y52F	probably benign	Het
Olfr692	C	T	7: 105,368,413	T20I	probably benign	Het
Otud4	A	T	8: 79,672,892	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,115,568	I166N	possibly damaging	Het
Pak2	T	A	16: 32,021,830	N478Y	probably damaging	Het
Papss2	A	G	19: 32,639,000	D202G	probably benign	Het
Pcdh7	C	A	5: 57,728,111		probably null	Het
Peg3	C	A	7: 6,717,849	S19I	possibly damaging	Het
Prim2	G	T	1: 33,668,893	T40K	probably benign	Het
Ranbp2	T	C	10: 58,478,668	F1737L	probably benign	Het
Rex2	A	C	4: 147,057,985	N310T	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf39	C	T	17: 36,947,200	A86V	probably damaging	Het
Ror1	A	T	4: 100,425,938	N400I	probably benign	Het
Slc38a8	C	T	8: 119,494,289	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,956,310	V445A	probably benign	Het
Sptbn2	A	G	19: 4,718,908	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,008,218	F74L	probably benign	Het
Trappc11	G	C	8: 47,530,731	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,472,488	K350R	probably damaging	Het
Trnt1	T	C	6: 106,773,414	F93S	probably damaging	Het
Ube2c	T	C	2: 164,777,190	V161A	probably benign	Het
Usp24	A	G	4: 106,362,357	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,651,864	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,455,113	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,069,754	C517*	probably null	Het
Vps13a	A	T	19: 16,641,667	I2845N	probably damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Xpo5	T	C	17: 46,236,922	V896A	probably benign	Het
Zfp2	T	C	11: 50,901,241		probably benign	Het
Zgrf1	G	A	3: 127,600,980	M1328I	probably benign	Het
Zswim5	A	G	4: 116,979,577	D686G	possibly damaging	Het

Other mutations in Olfr748

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Olfr748	APN	14	50,710,993 (GRCm38)	missense	possibly damaging	0.95
IGL02965:Olfr748	APN	14	50,711,196 (GRCm38)	missense	probably damaging	1.00
R0576:Olfr748	UTSW	14	50,711,204 (GRCm38)	missense	probably damaging	0.98
R1184:Olfr748	UTSW	14	50,710,614 (GRCm38)	missense	probably benign	0.01
R2129:Olfr748	UTSW	14	50,710,636 (GRCm38)	missense	probably damaging	0.99
R2895:Olfr748	UTSW	14	50,710,516 (GRCm38)	missense	probably damaging	0.99
R2896:Olfr748	UTSW	14	50,710,516 (GRCm38)	missense	probably damaging	0.99
R4017:Olfr748	UTSW	14	50,710,876 (GRCm38)	missense	probably benign	0.03
R5053:Olfr748	UTSW	14	50,710,511 (GRCm38)	nonsense	probably null
R5057:Olfr748	UTSW	14	50,711,212 (GRCm38)	missense	probably damaging	1.00
R5113:Olfr748	UTSW	14	50,710,914 (GRCm38)	missense	probably benign	0.00
R5294:Olfr748	UTSW	14	50,710,779 (GRCm38)	missense	probably benign	0.01
R5499:Olfr748	UTSW	14	50,710,867 (GRCm38)	missense	probably damaging	1.00
R5582:Olfr748	UTSW	14	50,710,968 (GRCm38)	missense	probably damaging	1.00
R5727:Olfr748	UTSW	14	50,710,360 (GRCm38)	missense	possibly damaging	0.74
R6797:Olfr748	UTSW	14	50,711,106 (GRCm38)	missense	probably damaging	1.00
R7685:Olfr748	UTSW	14	50,710,758 (GRCm38)	missense	possibly damaging	0.95
R7717:Olfr748	UTSW	14	50,710,762 (GRCm38)	missense	probably damaging	1.00
R7778:Olfr748	UTSW	14	50,710,471 (GRCm38)	missense	possibly damaging	0.60
R8276:Olfr748	UTSW	14	50,710,830 (GRCm38)	missense	probably benign	0.28
R8839:Olfr748	UTSW	14	50,710,500 (GRCm38)	missense	possibly damaging	0.73
R9322:Olfr748	UTSW	14	50,711,050 (GRCm38)	missense	probably damaging	1.00
R9358:Olfr748	UTSW	14	50,710,345 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTCAATCTCTTGGTCCAAAG -3'
(R):5'- ATTCAGTTGTGCCCAGGGAG -3'

Sequencing Primer
(F):5'- CTCTTGGTCCAAAGAAAAGCTTC -3'
(R):5'- TAAAGCATCCAGTGAAGGATATAGTC -3'

Posted On

2016-07-22