Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Olfr1290'

543535

Institutional Source

Beutler Lab

Gene Symbol

Olfr1290

Ensembl Gene

ENSMUSG00000095809

Gene Name

olfactory receptor 1290

Synonyms

GA_x6K02T2Q125-72541649-72540711, MOR248-9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111487528-111493829 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 111490109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099616] [ENSMUST00000208695] [ENSMUST00000208881] [ENSMUST00000217611]

AlphaFold

Q7TQX8

Predicted Effect

probably null
Transcript: ENSMUST00000099616

SMART Domains

Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	3.5e-52	PFAM
Pfam:7tm_1	41	287	1e-18	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000208695

Predicted Effect

silent
Transcript: ENSMUST00000208881

Predicted Effect

silent
Transcript: ENSMUST00000217611

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Olfr1290

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Olfr1290	APN	2	111489220	makesense	probably null
IGL01418:Olfr1290	APN	2	111489639	missense	probably benign	0.37
IGL02288:Olfr1290	APN	2	111489720	missense	probably benign	0.09
IGL02507:Olfr1290	APN	2	111489423	missense	possibly damaging	0.87
IGL02508:Olfr1290	APN	2	111489835	missense	probably damaging	1.00
IGL02951:Olfr1290	APN	2	111490120	missense	probably benign	0.00
IGL03357:Olfr1290	APN	2	111489944	missense	probably benign	0.01
R1101:Olfr1290	UTSW	2	111489442	missense	probably damaging	1.00
R2256:Olfr1290	UTSW	2	111489978	missense	probably damaging	1.00
R2420:Olfr1290	UTSW	2	111489257	splice site	probably null
R4672:Olfr1290	UTSW	2	111489557	missense	possibly damaging	0.66
R4715:Olfr1290	UTSW	2	111489744	missense	probably benign
R4855:Olfr1290	UTSW	2	111489948	missense	probably damaging	1.00
R6011:Olfr1290	UTSW	2	111489847	missense	probably benign	0.03
R6141:Olfr1290	UTSW	2	111490119	missense	probably benign	0.34
R6156:Olfr1290	UTSW	2	111489750	missense	probably damaging	1.00
R6703:Olfr1290	UTSW	2	111490109	splice site	probably null
R7413:Olfr1290	UTSW	2	111489588	missense	probably benign	0.18
R7861:Olfr1290	UTSW	2	111490024	missense	probably damaging	0.99
R8007:Olfr1290	UTSW	2	111489723	missense	probably damaging	1.00
R8914:Olfr1290	UTSW	2	111489659	missense	probably damaging	1.00
R8947:Olfr1290	UTSW	2	111489697	missense	probably benign	0.02
R9003:Olfr1290	UTSW	2	111490066	missense	probably benign	0.11
R9396:Olfr1290	UTSW	2	111489519	missense	probably benign	0.22
Z1176:Olfr1290	UTSW	2	111489877	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGAGGAAAGCCACATATC -3'
(R):5'- GGAAAGTAGCCTCCCTCATAC -3'

Sequencing Primer
(F):5'- CCACATATCAATAAAGGACAGGTTG -3'
(R):5'- GAAAGTAGCCTCCCTCATACCTCTAG -3'

Posted On

2019-02-22