Mutagenetix > Incidental Mutations

Incidental Mutation 'R0539:Olfr1044'

49667

Institutional Source

Beutler Lab

Gene Symbol

Olfr1044

Ensembl Gene

ENSMUSG00000075200

Gene Name

olfactory receptor 1044

Synonyms

MOR185-4, GA_x6K02T2Q125-47640742-47639798

MMRRC Submission

038731-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R0539 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86168589-86177820 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86171043 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 258 (M258K)

Ref Sequence

ENSEMBL: ENSMUSP00000150199 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099906
AA Change: M258K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097490
Gene: ENSMUSG00000075200
AA Change: M258K

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: M258K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,379,350	H129Q	probably damaging	Het
Abca14	G	A	7: 120,207,797	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,669,075	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,868,692	G574S	probably damaging	Het
Adgrg5	T	A	8: 94,938,632	N389K	probably damaging	Het
Ankk1	A	G	9: 49,418,030	V80A	probably benign	Het
Arhgap20	A	G	9: 51,850,155	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,914,799	K32*	probably null	Het
AW209491	T	C	13: 14,637,732	F390S	probably damaging	Het
Axl	A	T	7: 25,778,717		probably benign	Het
Bri3bp	A	G	5: 125,454,539	Y183C	probably damaging	Het
Cad	T	C	5: 31,075,457		probably benign	Het
Capns2	A	G	8: 92,901,732	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,925,162	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,523,706	V166A	possibly damaging	Het
Clmp	A	G	9: 40,782,486	Y333C	probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Copz1	A	G	15: 103,291,365	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,998,898	D738G	probably benign	Het
Ctnna2	T	A	6: 76,973,899	I165F	probably damaging	Het
Dcaf7	T	G	11: 106,051,826	S200A	probably damaging	Het
Deup1	T	A	9: 15,582,597	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,857,430		probably benign	Het
Dnase2b	A	T	3: 146,589,155		probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,178,768		probably null	Het
Ephb2	T	C	4: 136,655,976	Y931C	probably damaging	Het
Fam83h	T	C	15: 76,003,227	S754G	possibly damaging	Het
Fibp	T	A	19: 5,463,188	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,832,898	I571T	probably damaging	Het
Grm7	T	G	6: 111,359,094		probably benign	Het
Gsdma3	A	G	11: 98,635,919	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,032,141		probably benign	Het
Hist1h4c	A	G	13: 23,698,148	F101S	probably damaging	Het
Hydin	A	G	8: 110,523,072	I2216V	probably benign	Het
Ipo8	A	G	6: 148,818,108	M113T	probably benign	Het
Kdm6a	A	G	X: 18,262,425	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,188,217	E117K	probably damaging	Het
Lin7b	A	G	7: 45,369,902		probably benign	Het
Lipn	G	A	19: 34,084,603		probably benign	Het
Lrfn2	C	A	17: 49,071,044	N384K	probably damaging	Het
Lrrc6	A	T	15: 66,447,606	V305D	probably damaging	Het
Map1b	T	C	13: 99,434,018	K732E	unknown	Het
Mpl	A	G	4: 118,443,508	M541T	possibly damaging	Het
Mprip	T	C	11: 59,741,117		probably benign	Het
Mrc1	T	C	2: 14,270,126		probably benign	Het
Ms4a13	T	C	19: 11,171,871		probably benign	Het
Myo18b	G	T	5: 112,723,868	R2116S	probably damaging	Het
Nav2	A	G	7: 49,461,938	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,415,697	A642D	probably benign	Het
Ndufs7	T	A	10: 80,254,831		probably benign	Het
Nfkbiz	G	A	16: 55,817,879	T406M	probably benign	Het
Nr4a1	A	G	15: 101,270,884	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,493,404	F1103V	probably damaging	Het
Olfr1028	G	T	2: 85,952,009	M315I	probably benign	Het
Olfr1441	C	T	19: 12,422,809	L167F	probably damaging	Het
Olfr381	T	C	11: 73,486,063	T254A	probably benign	Het
Olfr479	C	T	7: 108,055,822	T280I	probably damaging	Het
Olfr958	A	T	9: 39,550,297	D191E	probably damaging	Het
Olfr996	T	A	2: 85,579,775	C179S	probably damaging	Het
Phf1	A	G	17: 26,934,458		probably null	Het
Pip	C	T	6: 41,849,885	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,118,162		probably null	Het
Prl2c5	A	G	13: 13,189,321		probably null	Het
Psph	T	A	5: 129,766,577		probably benign	Het
Ptch1	C	T	13: 63,543,480		probably benign	Het
Ptprs	C	T	17: 56,458,255	V10M	probably damaging	Het
Rarg	T	C	15: 102,238,877	R358G	probably damaging	Het
Rbl2	T	C	8: 91,112,505		probably benign	Het
Robo2	A	T	16: 73,985,574		probably benign	Het
Scin	A	T	12: 40,081,766	D256E	possibly damaging	Het
Scn8a	T	C	15: 101,016,568	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,225,301		probably benign	Het
Slc13a2	G	A	11: 78,399,138	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,692,230	I519V	probably benign	Het
Slc30a9	C	T	5: 67,334,610	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,202,762	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558	K466N	probably benign	Het
Snx16	T	C	3: 10,426,218	E209G	probably damaging	Het
Sp3	A	T	2: 72,970,532	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,454,794	V1202F	probably benign	Het
Stam2	A	T	2: 52,703,256		probably benign	Het
Stox2	T	C	8: 47,194,035	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,866,523	T49A	probably damaging	Het
Supt3	A	T	17: 45,003,131	I136F	possibly damaging	Het
Syne2	A	T	12: 76,024,121	R103S	possibly damaging	Het
Synj2	T	A	17: 5,996,888	M1K	probably null	Het
Tas2r110	T	C	6: 132,868,371	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434		probably null	Het
Tmem117	A	G	15: 94,714,912	T110A	possibly damaging	Het
Tmem247	A	G	17: 86,917,478	D5G	probably benign	Het
Tmem39a	T	A	16: 38,590,975	F363I	probably benign	Het
Tmem80	G	A	7: 141,335,895	A73T	possibly damaging	Het
Trpm4	C	T	7: 45,305,472	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,063,986		probably benign	Het
Vmn1r120	A	T	7: 21,053,472	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,580,947		probably benign	Het
Vmn2r95	T	C	17: 18,452,100	F700L	probably damaging	Het
Wdr70	G	A	15: 7,885,637	T550M	possibly damaging	Het
Zbtb22	A	G	17: 33,918,144	D421G	possibly damaging	Het
Zbtb45	G	A	7: 13,006,333	R452C	probably damaging	Het
Zfhx3	T	C	8: 108,800,509	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,806,593		probably null	Het
Zfp532	T	A	18: 65,623,766	S257T	probably benign	Het
Zfp933	G	A	4: 147,826,548	T197I	probably benign	Het
Zgrf1	T	A	3: 127,615,192	N1649K	probably damaging	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
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
R4850:Olfr1044	UTSW	2	86171671	missense	probably damaging	1.00
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'- TGTGGAACGGTTTCGATAGAGCAAA -3'
(R):5'- GTCTGCGCTGGCATCATGTTCA -3'

Sequencing Primer
(F):5'- CACACATAGTCCATCAAGTAATTTTC -3'
(R):5'- GCTGGCATCATGTTCATTTCC -3'

Posted On

2013-06-12