Mutagenetix > Incidental Mutations

Incidental Mutation 'R1054:Olfr648'

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94190

Institutional Source

Beutler Lab

Gene Symbol

Olfr648

Ensembl Gene

ENSMUSG00000042909

Gene Name

olfactory receptor 648

Synonyms

GA_x6K02T2PBJ9-6914780-6913830, MOR31-12

MMRRC Submission

039144-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104177598-104183392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104180291 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 39 (I39T)

Ref Sequence

ENSEMBL: ENSMUSP00000149047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052659] [ENSMUST00000216612]

Predicted Effect

probably benign
Transcript: ENSMUST00000052659
AA Change: I39T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: I39T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	2e-111	PFAM
Pfam:7TM_GPCR_Srsx	37	309	7.7e-7	PFAM
Pfam:7tm_1	43	294	3.1e-17	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
AA Change: I39T

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	309	1.1e-8	PFAM
Pfam:7tm_1	43	294	3.6e-28	PFAM
Pfam:7tm_4	141	287	1.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216612
AA Change: I39T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,751,559	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,178,544	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,313,353	M932K	probably benign	Het
Cdh15	T	C	8: 122,864,337	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534	D105N	probably damaging	Het
Cpne4	A	G	9: 105,022,401	T428A	probably benign	Het
Cramp1l	T	A	17: 24,983,177	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067		probably benign	Het
Eif3f	G	A	7: 108,937,817		probably null	Het
Elmod1	T	C	9: 53,912,774	D310G	probably benign	Het
Fam105a	T	C	15: 27,664,549	R79G	probably damaging	Het
Fn1	A	G	1: 71,586,214	*2272Q	probably null	Het
Gm12800	A	G	4: 101,909,164	E15G	probably benign	Het
Gm8765	T	C	13: 50,702,396	V690A	probably benign	Het
Gnat1	A	G	9: 107,677,439	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718		probably null	Het
Olfr414	A	G	1: 174,430,853	T142A	probably benign	Het
Pdzd2	A	G	15: 12,371,639	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536	V199A	possibly damaging	Het
Ptprm	A	T	17: 67,042,318	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,882,081	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945		noncoding transcript	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr16c6	A	G	4: 4,069,908	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518	H827N	probably damaging	Het
Taf4b	T	A	18: 14,821,473	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,522,428	V36A	probably benign	Het
Tmem74b	C	T	2: 151,706,419	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599	S407T	probably benign	Het

Other mutations in Olfr648

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Olfr648	APN	7	104180225	missense	probably damaging	1.00
IGL02488:Olfr648	APN	7	104180271	missense	possibly damaging	0.66
IGL02956:Olfr648	APN	7	104180127	missense	probably damaging	1.00
R0001:Olfr648	UTSW	7	104179473	nonsense	probably null
R0057:Olfr648	UTSW	7	104180329	missense	probably benign	0.13
R1262:Olfr648	UTSW	7	104179416	splice site	probably null
R4589:Olfr648	UTSW	7	104179429	splice site	probably null
R4975:Olfr648	UTSW	7	104179529	missense	probably damaging	1.00
R5068:Olfr648	UTSW	7	104180241	missense	probably damaging	1.00
R5643:Olfr648	UTSW	7	104179884	missense	probably benign	0.00
R6195:Olfr648	UTSW	7	104179754	missense	possibly damaging	0.78
R6211:Olfr648	UTSW	7	104179747	nonsense	probably null
R6233:Olfr648	UTSW	7	104179754	missense	possibly damaging	0.78
R6259:Olfr648	UTSW	7	104180054	missense	possibly damaging	0.53
R7138:Olfr648	UTSW	7	104180297	missense	probably damaging	1.00
R7357:Olfr648	UTSW	7	104179771	missense	probably damaging	1.00
R7570:Olfr648	UTSW	7	104179748	missense	probably damaging	1.00
R8352:Olfr648	UTSW	7	104179896	missense	probably damaging	1.00
R8452:Olfr648	UTSW	7	104179896	missense	probably damaging	1.00
X0018:Olfr648	UTSW	7	104179590	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCCACAGCAATCTTGACGATAG -3'
(R):5'- TCCAGAGCTGCTGAATGTTGTTACC -3'

Sequencing Primer
(F):5'- CAGCAATCTTGACGATAGTCTTGG -3'
(R):5'- GCTGCTGAATGTTGTTACCATTTTC -3'

Posted On

2014-01-05