Mutagenetix > Incidental Mutations

Incidental Mutation 'R5141:Olfr44'

396473

Institutional Source

Beutler Lab

Gene Symbol

Olfr44

Ensembl Gene

ENSMUSG00000062649

Gene Name

olfactory receptor 44

Synonyms

GA_x6K02T2PVTD-33181773-33180838, MOR171-5, IB3

MMRRC Submission

042727-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39481786-39493995 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39484531 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 238 (F238L)

Ref Sequence

ENSEMBL: ENSMUSP00000150827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077757] [ENSMUST00000215065] [ENSMUST00000216316]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077757
AA Change: F241L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076935
Gene: ENSMUSG00000062649
AA Change: F241L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	4.1e-50	PFAM
Pfam:7tm_1	44	293	1.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215065
AA Change: F238L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216316
AA Change: F238L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (76/79)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,573,128	V193A	probably benign	Het
Adamts18	T	A	8: 113,775,270	T320S	probably damaging	Het
Adamtsl1	G	T	4: 86,156,850	M151I	possibly damaging	Het
Adgrv1	A	T	13: 81,270,918	V5986E	probably damaging	Het
Aifm3	A	G	16: 17,499,722	E69G	probably damaging	Het
Akap13	C	A	7: 75,609,614	T662K	probably benign	Het
Alms1	A	G	6: 85,621,432	D1080G	probably benign	Het
Als2	T	C	1: 59,170,452	E1457G	possibly damaging	Het
Apobec4	A	G	1: 152,756,213		probably benign	Het
Apoo-ps	C	T	13: 107,414,395		noncoding transcript	Het
Aspscr1	G	A	11: 120,689,177	V181I	probably benign	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
C3	T	A	17: 57,219,570	I804F	probably damaging	Het
Cbfa2t3	C	T	8: 122,635,021	G421R	probably benign	Het
Chmp4c	A	G	3: 10,367,153	E41G	probably damaging	Het
Clk4	T	A	11: 51,275,771	F96L	possibly damaging	Het
Ctsg	G	A	14: 56,101,727	R25*	probably null	Het
Cul1	A	G	6: 47,520,839	D618G	probably benign	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dip2a	G	A	10: 76,270,453	T1326I	probably damaging	Het
Etnk2	A	G	1: 133,368,862	I210V	probably benign	Het
Gm5773	T	A	3: 93,773,727	D235E	probably benign	Het
Gm7353	T	C	7: 3,111,001		noncoding transcript	Het
Gpi1	G	A	7: 34,227,096		probably benign	Het
Ing4	T	C	6: 125,039,874	M5T	probably benign	Het
Inpp4a	A	G	1: 37,380,087	I583V	probably benign	Het
Isyna1	T	C	8: 70,594,893	V64A	probably damaging	Het
Katnal2	T	A	18: 76,997,641	D310V	probably damaging	Het
Kbtbd8	A	G	6: 95,121,839	T126A	probably damaging	Het
Kif13a	T	C	13: 46,752,721	D582G	probably benign	Het
Lmf2	G	A	15: 89,351,607		probably null	Het
Lrp2	T	C	2: 69,552,349		probably null	Het
Lrp4	T	C	2: 91,478,678		probably benign	Het
Lyzl1	A	C	18: 4,169,209	D71A	possibly damaging	Het
Mak	C	T	13: 41,032,563	C543Y	possibly damaging	Het
Mapk8ip1	T	C	2: 92,386,765	D404G	probably damaging	Het
Mdga1	C	T	17: 29,852,493	E385K	probably benign	Het
Mst1r	T	A	9: 107,912,241	I573N	probably damaging	Het
Muc5ac	T	A	7: 141,814,742	N2365K	possibly damaging	Het
Ncan	T	C	8: 70,112,837	E179G	probably damaging	Het
Nlgn2	C	T	11: 69,825,390	R775H	probably damaging	Het
Olfr1228	A	C	2: 89,249,129	Y176*	probably null	Het
Olfr975	T	G	9: 39,949,874	K299T	probably benign	Het
Pcolce	G	T	5: 137,605,750	Q352K	probably benign	Het
Peg3	G	T	7: 6,709,382	T947N	probably benign	Het
Pld3	C	T	7: 27,533,795	D344N	probably damaging	Het
Plec	A	C	15: 76,190,533	D411E	probably damaging	Het
Pmp2	C	T	3: 10,182,414	D72N	probably benign	Het
Ptpn9	T	C	9: 57,036,676	V278A	possibly damaging	Het
Rbm33	A	G	5: 28,352,689	H300R	probably damaging	Het
Rpgrip1l	T	C	8: 91,260,918	Q837R	probably benign	Het
Rwdd4a	T	C	8: 47,550,674		probably benign	Het
Sema6a	T	C	18: 47,248,388	T1048A	probably damaging	Het
Senp1	G	A	15: 98,076,607	A108V	probably benign	Het
Serpine2	G	T	1: 79,802,863	Q290K	possibly damaging	Het
Sesn1	A	G	10: 41,811,101	N27S	probably benign	Het
Shroom1	T	A	11: 53,463,982	L243*	probably null	Het
Slc17a5	A	G	9: 78,540,988	Y395H	probably damaging	Het
Slc5a8	T	C	10: 88,919,560		probably null	Het
Sptbn5	G	A	2: 120,061,731	S1083F	probably benign	Het
Stx4a	T	A	7: 127,846,615	V231E	probably damaging	Het
Swt1	A	T	1: 151,411,394	S116T	probably benign	Het
Syt9	C	T	7: 107,504,219	T408I	probably damaging	Het
Tgm7	T	C	2: 121,100,999	T228A	probably benign	Het
Tmem115	A	G	9: 107,537,942	D310G	probably benign	Het
Trcg1	G	A	9: 57,241,304	G53D	probably damaging	Het
Tsfm	T	C	10: 127,029,613	K100E	probably damaging	Het
Usp1	A	G	4: 98,934,209	T587A	probably damaging	Het
Vcpip1	G	T	1: 9,748,077	A27E	unknown	Het
Vmn2r49	T	C	7: 9,986,373	N397S	probably benign	Het
Vmn2r8	A	G	5: 108,808,706	S17P	probably damaging	Het
Vwa3b	A	G	1: 37,187,021		probably benign	Het
Ythdc2	T	A	18: 44,865,047	S1094T	probably benign	Het
Zbtb22	C	G	17: 33,918,636	S585C	possibly damaging	Het
Zhx2	A	G	15: 57,821,786	T184A	probably benign	Het

Other mutations in Olfr44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Olfr44	APN	9	39484648	missense	probably benign	0.02
IGL02239:Olfr44	APN	9	39484561	missense	probably damaging	1.00
IGL02305:Olfr44	APN	9	39485037	missense	probably damaging	0.97
IGL02353:Olfr44	APN	9	39485148	missense	probably benign
IGL02360:Olfr44	APN	9	39485148	missense	probably benign
R0212:Olfr44	UTSW	9	39485088	missense	probably damaging	1.00
R0600:Olfr44	UTSW	9	39484988	missense	probably benign	0.34
R1329:Olfr44	UTSW	9	39484444	missense	probably damaging	0.97
R1348:Olfr44	UTSW	9	39485236	missense	probably benign
R1594:Olfr44	UTSW	9	39484746	missense	probably benign	0.03
R5017:Olfr44	UTSW	9	39484755	missense	possibly damaging	0.90
R5244:Olfr44	UTSW	9	39484512	missense	probably damaging	1.00
R5524:Olfr44	UTSW	9	39484987	missense	probably damaging	0.97
R5630:Olfr44	UTSW	9	39484951	missense	probably benign	0.00
R5860:Olfr44	UTSW	9	39484471	missense	probably benign	0.07
R6444:Olfr44	UTSW	9	39484318	missense	probably benign	0.04
R6649:Olfr44	UTSW	9	39484752	missense	probably benign	0.02
R6653:Olfr44	UTSW	9	39484752	missense	probably benign	0.02
R7115:Olfr44	UTSW	9	39484648	missense	probably benign	0.02
R7595:Olfr44	UTSW	9	39484315	missense	probably benign	0.05
R7791:Olfr44	UTSW	9	39484881	missense	probably damaging	1.00
R8054:Olfr44	UTSW	9	39484737	missense	not run

Predicted Primers

PCR Primer
(F):5'- TTTTCAAGGCAACAGCAACATC -3'
(R):5'- CTGCAAATTAGATGTGATCAACCAC -3'

Sequencing Primer
(F):5'- AGCAACATCTTTATTCCTCAGACTG -3'
(R):5'- GTGATCAACCACTATTTCTGTGAC -3'

Posted On

2016-06-21