Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Olfr1130'

541865

Institutional Source

Beutler Lab

Gene Symbol

Olfr1130

Ensembl Gene

ENSMUSG00000059205

Gene Name

olfactory receptor 1130

Synonyms

MOR264-4, GA_x6K02T2Q125-49112575-49113519

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87606212-87609852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87607613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 75 (L75P)

Ref Sequence

ENSEMBL: ENSMUSP00000150905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000213103] [ENSMUST00000216580]

AlphaFold

A0A1L1SQT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000213103
AA Change: L75P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216580
AA Change: L75P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	Het

Other mutations in Olfr1130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Olfr1130	APN	2	87607979	missense	probably damaging	1.00
IGL01310:Olfr1130	APN	2	87607508	missense	possibly damaging	0.68
IGL02558:Olfr1130	APN	2	87607559	missense	probably benign	0.00
R0323:Olfr1130	UTSW	2	87607497	missense	probably benign
R0590:Olfr1130	UTSW	2	87607994	missense	probably damaging	0.98
R0718:Olfr1130	UTSW	2	87607927	missense	probably benign	0.08
R2445:Olfr1130	UTSW	2	87607958	missense	probably damaging	0.99
R3408:Olfr1130	UTSW	2	87607876	missense	probably benign	0.03
R4280:Olfr1130	UTSW	2	87608251	missense	possibly damaging	0.90
R4491:Olfr1130	UTSW	2	87607392	start codon destroyed	probably null	0.84
R4928:Olfr1130	UTSW	2	87608143	missense	probably benign	0.06
R5033:Olfr1130	UTSW	2	87607711	missense	probably damaging	1.00
R5061:Olfr1130	UTSW	2	87607832	missense	probably benign	0.00
R5109:Olfr1130	UTSW	2	87607411	missense	possibly damaging	0.64
R5109:Olfr1130	UTSW	2	87607975	missense	possibly damaging	0.78
R5772:Olfr1130	UTSW	2	87608173	missense	probably benign	0.12
R6004:Olfr1130	UTSW	2	87607909	missense	probably damaging	1.00
R6005:Olfr1130	UTSW	2	87608080	missense	probably damaging	0.97
R6411:Olfr1130	UTSW	2	87607973	missense	probably damaging	1.00
R7085:Olfr1130	UTSW	2	87607406	missense	probably benign	0.00
R7484:Olfr1130	UTSW	2	87607937	missense	probably damaging	1.00
R8429:Olfr1130	UTSW	2	87607524	missense	probably benign	0.06
R8471:Olfr1130	UTSW	2	87607645	missense	probably damaging	0.99
R8485:Olfr1130	UTSW	2	87608257	missense	probably benign	0.00
R8890:Olfr1130	UTSW	2	87608068	missense	probably damaging	1.00
R8935:Olfr1130	UTSW	2	87608077	missense	possibly damaging	0.72
X0060:Olfr1130	UTSW	2	87608042	missense	probably benign	0.11
Z1176:Olfr1130	UTSW	2	87607754	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- TGACAGAGTTTCTCCTCCTGGG -3'
(R):5'- CCAGCTGAGTGCACTTTGTTG -3'

Sequencing Primer
(F):5'- TGGGATTTTCAGACCTTCCTAAC -3'
(R):5'- GTTCATGACCAAAGGATAGTGC -3'

Posted On

2018-11-28