Mutagenetix > Incidental Mutations

Incidental Mutation 'R5940:Olfr1085'

462463

Institutional Source

Beutler Lab

Gene Symbol

Olfr1085

Ensembl Gene

ENSMUSG00000075176

Gene Name

olfactory receptor 1085

Synonyms

GA_x6K02T2Q125-48147264-48146323, MOR191-1

MMRRC Submission

044132-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86653665-86662019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86658050 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 136 (M136K)

Ref Sequence

ENSEMBL: ENSMUSP00000150955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099879] [ENSMUST00000213279] [ENSMUST00000214566]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099879
AA Change: M136K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097464
Gene: ENSMUSG00000075176
AA Change: M136K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4.6e-49	PFAM
Pfam:7tm_1	41	290	1.1e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213279
AA Change: M136K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214566
AA Change: M136K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (88/92)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,893,288		probably benign	Het
1110008L16Rik	T	A	12: 55,304,874	W323R	probably damaging	Het
1500015O10Rik	C	T	1: 43,737,241	R41*	probably null	Het
3425401B19Rik	T	C	14: 32,662,688	Y440C	possibly damaging	Het
5430419D17Rik	A	T	7: 131,238,263	D638V	probably damaging	Het
Aasdh	G	T	5: 76,882,898	S618R	probably benign	Het
Alpk1	T	G	3: 127,670,946	T1228P	probably benign	Het
Ank3	T	C	10: 69,920,486	V850A	probably benign	Het
Apeh	A	T	9: 108,091,899		probably null	Het
Ash1l	C	T	3: 88,984,036	T1074I	probably damaging	Het
C3	G	A	17: 57,210,244	S1297F	possibly damaging	Het
Cchcr1	G	A	17: 35,524,993	R284Q	probably damaging	Het
Cd93	A	T	2: 148,442,232	I398N	probably benign	Het
Chrd	G	T	16: 20,734,586	R226L	probably null	Het
Clvs1	A	T	4: 9,449,443	N344I	possibly damaging	Het
Cyp4v3	A	T	8: 45,321,784	I111N	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
Cysltr2	T	A	14: 73,029,949	Y107F	probably damaging	Het
Defb47	A	T	14: 63,000,910	E28D	probably benign	Het
Dnajc30	T	A	5: 135,064,559	Y103*	probably null	Het
Drap1	T	C	19: 5,423,000	T160A	probably benign	Het
Dsp	A	G	13: 38,196,026	E2249G	possibly damaging	Het
E2f8	T	A	7: 48,871,077	I499F	probably benign	Het
Ebf1	T	A	11: 44,621,221	Y116N	probably damaging	Het
Ect2	C	A	3: 27,115,465	E746D	probably benign	Het
Enpep	T	A	3: 129,312,578	Y333F	probably damaging	Het
Fat4	T	C	3: 38,889,649	V897A	probably benign	Het
Gja3	T	A	14: 57,035,860	S352C	probably damaging	Het
Gm884	T	C	11: 103,613,886	S243G	probably benign	Het
Gpr153	C	A	4: 152,283,375	P561Q	probably benign	Het
Hlcs	T	C	16: 94,134,712	M574V	probably damaging	Het
Hmcn1	A	G	1: 150,657,222	V3070A	probably benign	Het
Hsd3b2	G	T	3: 98,711,971	N219K	probably benign	Het
Htra3	T	C	5: 35,652,980	I453V	possibly damaging	Het
Klrc1	A	T	6: 129,674,935	M220K	possibly damaging	Het
Kntc1	T	G	5: 123,786,195	I1048S	probably benign	Het
Macf1	T	A	4: 123,432,881	D2822V	probably damaging	Het
Mcu	T	A	10: 59,456,732	I42F	possibly damaging	Het
Mkln1	T	A	6: 31,489,372	D521E	probably damaging	Het
Ms4a13	T	C	19: 11,192,966	N5D	possibly damaging	Het
Msh3	T	G	13: 92,249,843	N838T	probably damaging	Het
Msl2	T	A	9: 101,101,091	C221*	probably null	Het
Ncapd2	A	G	6: 125,168,869	S1310P	probably benign	Het
Ncoa6	A	T	2: 155,415,865	M586K	probably damaging	Het
Ndel1	C	T	11: 68,822,571		probably benign	Het
Ndst4	T	C	3: 125,561,419		probably benign	Het
Nes	T	G	3: 87,975,952	V506G	probably damaging	Het
Nrg1	T	C	8: 31,849,344	K200E	probably damaging	Het
Nt5c1b	A	G	12: 10,375,515	K295E	probably damaging	Het
Olfr1278	G	A	2: 111,292,384	V39M	possibly damaging	Het
Olfr1487	T	A	19: 13,619,153		probably null	Het
Olfr750	T	A	14: 51,070,722	I224L	probably damaging	Het
Olfr878	C	T	9: 37,919,437	T260I	probably damaging	Het
Olfr919	G	T	9: 38,697,711	Y218*	probably null	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pde1a	A	G	2: 79,887,839		probably null	Het
Pds5a	A	G	5: 65,643,985		probably benign	Het
Plbd1	A	T	6: 136,613,721		probably benign	Het
Plod2	T	A	9: 92,591,397	V292E	probably benign	Het
Polg	A	G	7: 79,454,071	V879A	possibly damaging	Het
Ppargc1a	C	T	5: 51,473,911	A459T	probably damaging	Het
Psip1	T	C	4: 83,476,322	E83G	probably damaging	Het
Rhbdf1	T	C	11: 32,209,847	D843G	probably benign	Het
Rnpepl1	G	T	1: 92,917,712	C451F	probably damaging	Het
Rrp1	T	C	10: 78,405,415	D206G	probably damaging	Het
Setbp1	A	T	18: 78,755,488	D1492E	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc16a6	C	T	11: 109,473,196		probably benign	Homo
Slc7a6os	A	G	8: 106,210,805	S37P	probably damaging	Het
Tenm4	T	A	7: 96,845,895	S1140T	probably damaging	Het
Thoc6	C	A	17: 23,670,341	R115L	probably benign	Het
Tmem63c	C	T	12: 87,075,172	H385Y	probably benign	Het
Trpm8	G	T	1: 88,351,415	E649*	probably null	Het
Usf1	A	G	1: 171,417,779	E253G	possibly damaging	Het
Vps13d	T	C	4: 145,074,975	T443A	probably benign	Het
Wdr86	T	C	5: 24,722,662	Y93C	probably damaging	Het
Zfp597	A	T	16: 3,865,821	I357N	probably damaging	Het
Zfp709	A	G	8: 71,890,220	I497V	possibly damaging	Het
Zxdc	T	C	6: 90,370,325	S223P	probably damaging	Het

Other mutations in Olfr1085

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Olfr1085	APN	2	86657726	missense	probably damaging	0.98
IGL01137:Olfr1085	APN	2	86657711	missense	possibly damaging	0.92
IGL01329:Olfr1085	APN	2	86658207	missense	probably benign	0.31
IGL01398:Olfr1085	APN	2	86657688	missense	probably damaging	1.00
IGL02248:Olfr1085	APN	2	86657717	missense	probably damaging	1.00
IGL02699:Olfr1085	APN	2	86658347	missense	probably benign	0.34
IGL02818:Olfr1085	APN	2	86657784	missense	probably damaging	1.00
IGL03095:Olfr1085	APN	2	86658431	missense	possibly damaging	0.50
IGL03218:Olfr1085	APN	2	86658359	missense	probably benign	0.32
R0121:Olfr1085	UTSW	2	86657819	missense	probably benign	0.42
R0546:Olfr1085	UTSW	2	86657891	missense	possibly damaging	0.91
R0583:Olfr1085	UTSW	2	86658360	missense	probably benign	0.20
R0980:Olfr1085	UTSW	2	86657865	missense	probably benign	0.39
R2067:Olfr1085	UTSW	2	86658437	missense	probably damaging	1.00
R2111:Olfr1085	UTSW	2	86658437	missense	probably damaging	1.00
R3760:Olfr1085	UTSW	2	86657888	missense	possibly damaging	0.91
R4530:Olfr1085	UTSW	2	86657561	missense	probably benign	0.00
R4809:Olfr1085	UTSW	2	86657685	missense	possibly damaging	0.95
R6027:Olfr1085	UTSW	2	86657804	missense	probably damaging	1.00
R6417:Olfr1085	UTSW	2	86658166	nonsense	probably null
R6420:Olfr1085	UTSW	2	86658166	nonsense	probably null
R6619:Olfr1085	UTSW	2	86658062	missense	probably damaging	1.00
R6762:Olfr1085	UTSW	2	86657844	missense	probably benign	0.22
R6946:Olfr1085	UTSW	2	86657588	missense	probably damaging	1.00
R7673:Olfr1085	UTSW	2	86657726	missense	probably damaging	1.00
R7718:Olfr1085	UTSW	2	86658029	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- ACCTCATGTGTATTTGAACAGAGC -3'
(R):5'- AATGTGGACTCCAGTCTCCAC -3'

Sequencing Primer
(F):5'- TTGAACAGAGCAAAGATATTAATGGG -3'
(R):5'- GGATATTCTACAGCCATTGGACC -3'

Posted On

2017-02-28