Mutagenetix > Incidental Mutation

Incidental Mutation 'R8048:Olfr1062'

618852

Institutional Source

Beutler Lab

Gene Symbol

Olfr1062

Ensembl Gene

ENSMUSG00000090059

Gene Name

olfactory receptor 1062

Synonyms

GA_x6K02T2Q125-47892992-47892045, MOR185-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86420399-86426749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86423307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 123 (Y123F)

Ref Sequence

ENSEMBL: ENSMUSP00000149742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105213] [ENSMUST00000217481]

AlphaFold

Q7TR71

Predicted Effect

probably damaging
Transcript: ENSMUST00000105213
AA Change: Y123F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100848
Gene: ENSMUSG00000090059
AA Change: Y123F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-46	PFAM
Pfam:7tm_1	41	290	2.8e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217481
AA Change: Y123F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,410,844	L318F	probably damaging	Het
Alms1	T	A	6: 85,641,334	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883	T443I	probably benign	Het
Arhgap29	C	T	3: 121,992,901	R372W	probably damaging	Het
Astn1	T	C	1: 158,688,638	I1266T	probably benign	Het
Bsg	T	C	10: 79,709,746	V164A	probably benign	Het
C1qa	G	T	4: 136,896,610	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,863	V92A	probably benign	Het
Ccdc187	T	A	2: 26,293,514	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,263,210	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,622,172	A285V	probably null	Het
Dsg1c	A	T	18: 20,274,767	K390M	probably damaging	Het
Dst	T	C	1: 34,190,636	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,649,758		probably null	Het
Fez2	T	C	17: 78,387,053	I303V	probably benign	Het
Ffar1	A	T	7: 30,860,578	I298N	probably benign	Het
Hpx	C	T	7: 105,595,478	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,121,802	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903	D99G	probably benign	Het
Ivl	T	A	3: 92,571,924	K278M	probably damaging	Het
Lyst	A	G	13: 13,687,645	T2589A	probably benign	Het
Madd	A	T	2: 91,154,448	M1359K	probably damaging	Het
Nav3	T	C	10: 109,764,918	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,179,698	C439*	probably null	Het
Nebl	T	C	2: 17,424,522	D266G	probably benign	Het
Oas1f	G	T	5: 120,847,537	G49V	probably damaging	Het
Oas1f	A	T	5: 120,848,416	Q144L	possibly damaging	Het
Olfr1032	T	G	2: 86,008,180	S135A	probably damaging	Het
Olfr1052	C	T	2: 86,298,328	P171S	probably benign	Het
Olfr134	T	C	17: 38,175,528	V148A	probably benign	Het
Olfr141	T	A	2: 86,806,171	Y276F	probably damaging	Het
Olfr1440	A	G	19: 12,394,355	I31V	not run	Het
Olfr324	A	G	11: 58,597,407	I6V	unknown	Het
Olfr711	C	T	7: 106,972,464		probably benign	Het
Olfr740	T	C	14: 50,453,916	L288P	possibly damaging	Het
Olfr917	C	T	9: 38,665,812	E11K	probably benign	Het
Pard3b	T	A	1: 62,153,989	V217E	probably damaging	Het
Pcdha2	T	A	18: 36,939,460	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,303,127	F1248L		Het
Plekha2	A	T	8: 25,063,989		probably benign	Het
Plpp4	C	T	7: 129,379,477	R151C	unknown	Het
Pramef17	T	A	4: 143,991,607	Y422F	probably benign	Het
Prdm16	A	G	4: 154,320,882	L1245P	probably damaging	Het
Prob1	G	A	18: 35,653,551	A550V	probably benign	Het
Prok1	T	C	3: 107,237,092	H65R	probably benign	Het
Ptcd1	A	G	5: 145,155,077	V404A	probably benign	Het
Sbf2	T	C	7: 110,315,082	E1631G	probably benign	Het
Sdad1	C	A	5: 92,300,089	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,910,072	A547S	probably benign	Het
Sptb	T	C	12: 76,628,559	D227G	probably benign	Het
Tbx1	A	G	16: 18,588,019	M1T	probably null	Het
Tespa1	T	A	10: 130,347,339	V51D	probably damaging	Het
Tmc7	T	C	7: 118,566,245	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,121,559	T23S	probably damaging	Het
Trib3	A	T	2: 152,338,633	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,183,500	V178A	probably benign	Het
Virma	T	A	4: 11,539,918	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,471,500	T254A	probably benign	Het
Vps13d	A	G	4: 145,155,567	V1152A		Het
Wdr47	T	C	3: 108,618,968	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,324,537	D676E	unknown	Het
Zc3h6	T	A	2: 129,017,014	S988R	probably benign	Het

Other mutations in Olfr1062

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Olfr1062	APN	2	86422992	missense	probably damaging	0.98
IGL02638:Olfr1062	APN	2	86423677	splice site	probably null
IGL02863:Olfr1062	APN	2	86423113	missense	probably benign	0.44
R0211:Olfr1062	UTSW	2	86423107	missense	probably damaging	0.96
R0211:Olfr1062	UTSW	2	86423107	missense	probably damaging	0.96
R1486:Olfr1062	UTSW	2	86423481	missense	probably damaging	0.99
R2327:Olfr1062	UTSW	2	86422821	nonsense	probably null
R3695:Olfr1062	UTSW	2	86423643	missense	probably damaging	0.96
R3981:Olfr1062	UTSW	2	86422842	missense	probably damaging	1.00
R4156:Olfr1062	UTSW	2	86423200	missense	possibly damaging	0.67
R4860:Olfr1062	UTSW	2	86422957	missense	probably damaging	1.00
R4860:Olfr1062	UTSW	2	86422957	missense	probably damaging	1.00
R5024:Olfr1062	UTSW	2	86423461	missense	possibly damaging	0.77
R5351:Olfr1062	UTSW	2	86423266	missense	probably damaging	1.00
R5566:Olfr1062	UTSW	2	86423377	nonsense	probably null
R5777:Olfr1062	UTSW	2	86423325	missense	probably benign	0.00
R6628:Olfr1062	UTSW	2	86423017	missense	probably benign	0.02
R7039:Olfr1062	UTSW	2	86422833	missense	possibly damaging	0.48
R7159:Olfr1062	UTSW	2	86423612	splice site	probably null
R7236:Olfr1062	UTSW	2	86423189	nonsense	probably null
R7251:Olfr1062	UTSW	2	86423596	missense	probably benign	0.45
R7575:Olfr1062	UTSW	2	86423238	missense	probably benign
R7840:Olfr1062	UTSW	2	86423239	missense	probably benign	0.00
R8167:Olfr1062	UTSW	2	86423140	missense	probably damaging	1.00
R8465:Olfr1062	UTSW	2	86423631	missense	probably benign	0.03
R8672:Olfr1062	UTSW	2	86423632	missense	probably benign
R8871:Olfr1062	UTSW	2	86423353	missense	probably benign
R9244:Olfr1062	UTSW	2	86423079	missense	probably damaging	0.97
R9513:Olfr1062	UTSW	2	86423363	missense	probably damaging	1.00
X0065:Olfr1062	UTSW	2	86423122	missense	probably benign	0.39
Z1176:Olfr1062	UTSW	2	86423374	missense	probably benign	0.07
Z1177:Olfr1062	UTSW	2	86423253	missense	probably damaging	1.00
Z1177:Olfr1062	UTSW	2	86423412	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AACAGTTTCTGGAAGGTGAGTGTC -3'
(R):5'- CCTGGCGGTCATCAACTTTG -3'

Sequencing Primer
(F):5'- GCTAACAGAGGGACATTGTCAC -3'
(R):5'- GCGGTCATCAACTTTGGCAAC -3'

Posted On

2020-01-23