Mutagenetix > Incidental Mutation

Incidental Mutation 'R4850:Olfr1044'

373445

Institutional Source

Beutler Lab

Gene Symbol

Olfr1044

Ensembl Gene

ENSMUSG00000075200

Gene Name

olfactory receptor 1044

Synonyms

MOR185-4, GA_x6K02T2Q125-47640742-47639798

MMRRC Submission

042462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R4850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86168589-86177820 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86171671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 49 (I49F)

Ref Sequence

ENSEMBL: ENSMUSP00000150199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099906] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215171] [ENSMUST00000216028]

AlphaFold

Q8VGR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000099906
AA Change: I49F

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

SMART Domains

Protein: ENSMUSP00000097490
Gene: ENSMUSG00000075200
AA Change: I49F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.7e-59	PFAM
Pfam:7tm_1	41	290	2.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213886

Predicted Effect

probably benign
Transcript: ENSMUST00000213949

Predicted Effect

probably damaging
Transcript: ENSMUST00000215171
AA Change: I49F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215739

Predicted Effect

probably benign
Transcript: ENSMUST00000216028

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (79/80)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,262,938	S3012P	unknown	Het
Abcb10	C	T	8: 123,982,690	A42T	probably benign	Het
Acsf3	T	C	8: 122,817,436	V551A	probably damaging	Het
Adgrl2	G	A	3: 148,859,020	T304I	probably damaging	Het
Akr1d1	A	G	6: 37,554,587		probably null	Het
Ankrd17	A	T	5: 90,264,786	H1226Q	probably damaging	Het
Arap1	T	C	7: 101,398,791	I847T	probably damaging	Het
Atad2b	G	A	12: 4,943,251	G257S	probably benign	Het
Cand2	A	T	6: 115,801,948	T1158S	probably benign	Het
Cic	G	A	7: 25,272,902	R686H	probably damaging	Het
Cldn1	T	A	16: 26,363,163	T99S	probably benign	Het
Cnga3	G	T	1: 37,258,006	E173*	probably null	Het
Cryge	G	T	1: 65,051,052		probably benign	Het
Dsp	T	A	13: 38,192,469	L1410H	probably damaging	Het
Dync2h1	T	C	9: 7,134,364	T1548A	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
Eml5	T	C	12: 98,790,619	D1917G	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam71d	A	G	12: 78,715,153	D197G	probably damaging	Het
Fn3krp	A	T	11: 121,425,053	H90L	possibly damaging	Het
Gm10718	A	T	9: 3,023,716	T56S	probably benign	Het
Gm4847	A	T	1: 166,642,339	I55K	probably damaging	Het
Gsn	T	A	2: 35,283,900		probably null	Het
Haghl	T	C	17: 25,783,006		probably benign	Het
Hist1h2bj	G	T	13: 22,043,251		probably benign	Het
Hmg20b	T	A	10: 81,346,927	E139V	probably damaging	Het
Hsd3b6	G	A	3: 98,807,905	T57I	probably benign	Het
Igkv5-48	A	G	6: 69,726,796	S42P	probably damaging	Het
Igsf23	T	C	7: 19,953,934		probably benign	Het
Kcnt1	T	C	2: 25,908,100	F874L	probably damaging	Het
Maf1	T	C	15: 76,352,962	F110L	possibly damaging	Het
Mtpap	C	T	18: 4,387,044	R365W	probably damaging	Het
Mtus1	A	C	8: 41,084,470	S70A	possibly damaging	Het
Nfatc1	T	A	18: 80,697,865	T307S	probably benign	Het
Nphs1	T	G	7: 30,463,232	S379A	possibly damaging	Het
Nup205	A	G	6: 35,230,530	T1506A	probably benign	Het
Olfr275	T	C	4: 52,825,450	S18P	possibly damaging	Het
Pcdhga8	A	T	18: 37,727,709	Y606F	probably damaging	Het
Pde7a	A	G	3: 19,243,117	V123A	probably benign	Het
Pex1	C	T	5: 3,624,426	T809I	probably benign	Het
Prdm13	C	A	4: 21,678,243	R749L	possibly damaging	Het
Prkcd	A	G	14: 30,599,743	L498P	probably damaging	Het
Pros1	A	T	16: 62,885,524	E67V	probably damaging	Het
Rab44	A	G	17: 29,140,089	E417G	possibly damaging	Het
Rangrf	A	G	11: 68,973,640		probably null	Het
Rp1	T	A	1: 4,348,675	K738M	probably damaging	Het
Ryr2	A	T	13: 11,668,820	D3119E	probably damaging	Het
Ryr2	G	A	13: 11,745,752	R1482C	probably damaging	Het
Sbspon	T	A	1: 15,858,968	T200S	probably damaging	Het
Sfxn5	T	C	6: 85,332,376		probably benign	Het
Slc26a8	T	A	17: 28,654,883	I377F	probably benign	Het
Slc30a7	A	G	3: 115,993,008	F72L	probably damaging	Het
Slc32a1	T	C	2: 158,614,192	F256L	possibly damaging	Het
Slco6b1	T	C	1: 96,911,833		noncoding transcript	Het
Smpd1	A	G	7: 105,555,985	H357R	probably benign	Het
Sncaip	A	T	18: 52,871,384	H361L	probably damaging	Het
Tenm2	A	C	11: 36,023,488	Y2406*	probably null	Het
Terb1	T	A	8: 104,485,425	H308L	probably benign	Het
Trim61	A	T	8: 65,013,418	L397H	probably damaging	Het
Trp53bp1	T	A	2: 121,205,113		probably null	Het
Ttn	T	G	2: 76,781,555	E9007D	possibly damaging	Het
Urb1	A	T	16: 90,795,414	C319*	probably null	Het
Vmn2r95	T	C	17: 18,451,653	Y551H	probably damaging	Het
Vwde	A	T	6: 13,196,048	V326D	possibly damaging	Het
Xdh	A	G	17: 73,898,335	L1045P	probably damaging	Het
Zfp638	T	C	6: 83,979,475	I1688T	possibly damaging	Het
Zwint	T	A	10: 72,655,956		probably benign	Het

Other mutations in Olfr1044

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Olfr1044	APN	2	86171397	missense	possibly damaging	0.90
IGL02562:Olfr1044	APN	2	86171040	missense	probably damaging	1.00
R0230:Olfr1044	UTSW	2	86171542	missense	probably benign	0.22
R0306:Olfr1044	UTSW	2	86171716	missense	possibly damaging	0.80
R0373:Olfr1044	UTSW	2	86171706	missense	probably damaging	0.98
R0539:Olfr1044	UTSW	2	86171043	missense	probably damaging	0.98
R1925:Olfr1044	UTSW	2	86171010	missense	probably benign	0.22
R2367:Olfr1044	UTSW	2	86171637	missense	probably damaging	1.00
R4114:Olfr1044	UTSW	2	86171415	missense	possibly damaging	0.90
R4851:Olfr1044	UTSW	2	86171671	missense	probably damaging	1.00
R7402:Olfr1044	UTSW	2	86171202	missense	probably benign	0.34
R7439:Olfr1044	UTSW	2	86171010	missense	probably damaging	1.00
R7441:Olfr1044	UTSW	2	86171010	missense	probably damaging	1.00
R7624:Olfr1044	UTSW	2	86171220	missense	possibly damaging	0.95
R8096:Olfr1044	UTSW	2	86171712	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCATAAAGGCTAGGAAACAGC -3'
(R):5'- ATTTGATGGACAAGCTTTGAGC -3'

Sequencing Primer
(F):5'- GCCTAACTGAGCAGCACATG -3'
(R):5'- CATGTTAACAGTGTAATGTGTTTCAC -3'

Posted On

2016-03-01