Mutagenetix > Incidental Mutation

Incidental Mutation 'R6103:Or5ar1'

485355

Institutional Source

Beutler Lab

Gene Symbol

Or5ar1

Ensembl Gene

ENSMUSG00000075208

Gene Name

olfactory receptor family 5 subfamily AR member 1

Synonyms

MOR180-1, Olfr1019, GA_x6K02T2Q125-47320309-47319377

MMRRC Submission

044253-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R6103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85671201-85672133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85671776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 120 (Y120H)

Ref Sequence

ENSEMBL: ENSMUSP00000150622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102634] [ENSMUST00000213515]

AlphaFold

Q8VGS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000102634
AA Change: Y120H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099694
Gene: ENSMUSG00000075208
AA Change: Y120H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.7e-55	PFAM
Pfam:7TM_GPCR_Srsx	35	237	1.6e-6	PFAM
Pfam:7tm_1	41	290	1.4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213515
AA Change: Y120H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1331

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,768,445 (GRCm39)	S926P	possibly damaging	Het
Acacb	T	A	5: 114,383,942 (GRCm39)	M2157K	probably damaging	Het
Aco2	T	C	15: 81,797,452 (GRCm39)	V636A	probably benign	Het
Adgrf3	T	C	5: 30,401,265 (GRCm39)	Y51C	probably damaging	Het
Adprhl1	T	C	8: 13,272,055 (GRCm39)	T1568A	possibly damaging	Het
Ank1	T	A	8: 23,603,999 (GRCm39)	S937T	probably damaging	Het
Ankrd50	T	C	3: 38,508,578 (GRCm39)	E340G	probably damaging	Het
Avpr1b	C	T	1: 131,537,155 (GRCm39)	P90S	probably damaging	Het
Cacna2d3	T	C	14: 29,118,446 (GRCm39)	H159R	probably damaging	Het
Carmil3	A	T	14: 55,742,884 (GRCm39)	T1185S	probably benign	Het
Casp2	A	T	6: 42,256,814 (GRCm39)	R357S	probably damaging	Het
Ccdc34	A	G	2: 109,848,352 (GRCm39)	D47G	probably benign	Het
Cd109	A	G	9: 78,605,596 (GRCm39)		probably null	Het
Cd209d	T	C	8: 3,928,304 (GRCm39)	Y27C	probably damaging	Het
Cep350	T	A	1: 155,800,322 (GRCm39)	D1176V	probably benign	Het
Cpd	A	T	11: 76,690,625 (GRCm39)	S844T	probably benign	Het
Cyp4x1	A	G	4: 114,968,864 (GRCm39)	L380P	probably damaging	Het
Dscam	A	G	16: 96,626,781 (GRCm39)	V376A	probably benign	Het
Enam	T	A	5: 88,650,187 (GRCm39)	N565K	probably damaging	Het
Fam110c	G	A	12: 31,124,794 (GRCm39)	W252*	probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fgb	T	C	3: 82,951,170 (GRCm39)	D281G	probably benign	Het
Frem2	T	A	3: 53,457,209 (GRCm39)	T2048S	probably benign	Het
Fut8	A	T	12: 77,378,721 (GRCm39)		probably benign	Het
Glmp	T	C	3: 88,235,338 (GRCm39)	S238P	probably benign	Het
Gm35315	T	A	5: 110,226,137 (GRCm39)	Y434F	probably damaging	Het
Gnpnat1	A	G	14: 45,620,856 (GRCm39)	F71S	probably damaging	Het
Gpnmb	A	G	6: 49,019,820 (GRCm39)	R64G	possibly damaging	Het
Grxcr1	T	C	5: 68,323,547 (GRCm39)	F275S	possibly damaging	Het
Ift140	T	A	17: 25,312,100 (GRCm39)	C1314S	probably damaging	Het
Kif9	T	C	9: 110,318,917 (GRCm39)	I127T	possibly damaging	Het
Mmd2	A	G	5: 142,553,618 (GRCm39)		probably null	Het
Ms4a3	A	T	19: 11,616,582 (GRCm39)	V20D	possibly damaging	Het
Mtres1	A	T	10: 43,408,916 (GRCm39)	Y76N	probably benign	Het
Myh7b	A	G	2: 155,460,663 (GRCm39)	E272G	probably damaging	Het
Naaladl1	G	A	19: 6,158,743 (GRCm39)	G292S	probably damaging	Het
Notch2	T	A	3: 98,043,059 (GRCm39)	Y1475N	possibly damaging	Het
Obp2a	G	A	2: 25,590,163 (GRCm39)	E21K	probably damaging	Het
Osbpl10	T	A	9: 114,890,940 (GRCm39)	Y109*	probably null	Het
Plcd1	A	T	9: 118,901,109 (GRCm39)	W749R	probably benign	Het
Ptpro	A	G	6: 137,377,704 (GRCm39)	E718G	possibly damaging	Het
Rbm4	C	T	19: 4,837,947 (GRCm39)	R295H	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Setdb2	T	C	14: 59,646,981 (GRCm39)		probably null	Het
Slc25a18	C	A	6: 120,766,399 (GRCm39)	L131I	probably damaging	Het
Slc4a10	A	G	2: 62,064,809 (GRCm39)	H221R	probably damaging	Het
Tbc1d32	A	T	10: 56,026,979 (GRCm39)	W757R	probably damaging	Het
Tmem183a	C	A	1: 134,275,884 (GRCm39)	V331L	probably benign	Het
Try10	C	A	6: 41,333,484 (GRCm39)	H76Q	probably damaging	Het
Ttn	T	A	2: 76,748,599 (GRCm39)	H4150L	probably benign	Het
Vmn2r52	G	A	7: 9,905,327 (GRCm39)	P171S	probably benign	Het
Vmn2r88	A	G	14: 51,652,826 (GRCm39)	T450A	probably benign	Het
Yipf7	A	T	5: 69,698,405 (GRCm39)	V34D	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zg16	A	G	7: 126,649,748 (GRCm39)	V71A	probably benign	Het

Other mutations in Or5ar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Or5ar1	APN	2	85,671,706 (GRCm39)	missense	probably benign	0.02
IGL02734:Or5ar1	APN	2	85,671,883 (GRCm39)	missense	possibly damaging	0.88
IGL03030:Or5ar1	APN	2	85,671,416 (GRCm39)	missense	probably damaging	1.00
IGL03207:Or5ar1	APN	2	85,671,317 (GRCm39)	missense	probably benign	0.14
IGL03215:Or5ar1	APN	2	85,671,725 (GRCm39)	missense	probably damaging	1.00
IGL03220:Or5ar1	APN	2	85,671,326 (GRCm39)	missense	possibly damaging	0.87
R0441:Or5ar1	UTSW	2	85,671,859 (GRCm39)	missense	probably damaging	1.00
R4013:Or5ar1	UTSW	2	85,671,725 (GRCm39)	missense	probably damaging	1.00
R4604:Or5ar1	UTSW	2	85,671,526 (GRCm39)	missense	probably damaging	0.99
R5307:Or5ar1	UTSW	2	85,671,358 (GRCm39)	missense	probably damaging	1.00
R5754:Or5ar1	UTSW	2	85,671,656 (GRCm39)	missense	probably damaging	1.00
R6010:Or5ar1	UTSW	2	85,671,905 (GRCm39)	missense	probably benign	0.16
R6062:Or5ar1	UTSW	2	85,671,458 (GRCm39)	missense	probably benign
R6443:Or5ar1	UTSW	2	85,671,979 (GRCm39)	missense	probably damaging	0.99
R7442:Or5ar1	UTSW	2	85,672,096 (GRCm39)	missense	probably benign	0.04
R7490:Or5ar1	UTSW	2	85,671,307 (GRCm39)	missense	probably damaging	1.00
R7524:Or5ar1	UTSW	2	85,671,701 (GRCm39)	missense	probably benign
R7605:Or5ar1	UTSW	2	85,671,383 (GRCm39)	missense	probably benign	0.34
R7615:Or5ar1	UTSW	2	85,672,001 (GRCm39)	missense	probably benign	0.02
R9706:Or5ar1	UTSW	2	85,671,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTGGTGGGATTTCACAG -3'
(R):5'- TCCTGATCATAACAGACAGTCAGC -3'

Sequencing Primer
(F):5'- TGGGATTTCACAGAAGAAATGGTTG -3'
(R):5'- TGATCATAACAGACAGTCAGCTTCAC -3'

Posted On

2017-08-16