Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Or4a80'

219151

Institutional Source

Beutler Lab

Gene Symbol

Or4a80

Ensembl Gene

ENSMUSG00000075075

Gene Name

olfactory receptor family 4 subfamily A member 80

Synonyms

MOR231-19P, MOR231-19P, MOR231-18, GA_x6K02T2Q125-51193814-51192857, Olfr1253, Olfr1559-ps1, Olfr1253-ps1

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89582214-89583170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89582417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 252 (C252S)

Ref Sequence

ENSEMBL: ENSMUSP00000151024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099765] [ENSMUST00000213484] [ENSMUST00000215185] [ENSMUST00000215988]

AlphaFold

A2AUA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099765
AA Change: C252S

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097353
Gene: ENSMUSG00000075075
AA Change: C252S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	9.2e-46	PFAM
Pfam:7tm_1	39	285	1.1e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213484
AA Change: C252S

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215185
AA Change: C252S

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215988
AA Change: C252S

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly damaging	Het

Other mutations in Or4a80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01938:Or4a80	APN	2	89,582,692 (GRCm39)	missense	probably benign	0.12
IGL02287:Or4a80	APN	2	89,582,958 (GRCm39)	nonsense	probably null
IGL03149:Or4a80	APN	2	89,583,172 (GRCm39)	splice site	probably null
R0017:Or4a80	UTSW	2	89,582,365 (GRCm39)	missense	possibly damaging	0.67
R1466:Or4a80	UTSW	2	89,582,611 (GRCm39)	missense	probably damaging	1.00
R1466:Or4a80	UTSW	2	89,582,611 (GRCm39)	missense	probably damaging	1.00
R1584:Or4a80	UTSW	2	89,582,611 (GRCm39)	missense	probably damaging	1.00
R2484:Or4a80	UTSW	2	89,582,578 (GRCm39)	missense	probably benign	0.00
R5135:Or4a80	UTSW	2	89,582,239 (GRCm39)	missense	possibly damaging	0.67
R5648:Or4a80	UTSW	2	89,582,417 (GRCm39)	missense	probably damaging	0.99
R6021:Or4a80	UTSW	2	89,582,465 (GRCm39)	missense	probably benign	0.13
R6952:Or4a80	UTSW	2	89,582,971 (GRCm39)	missense	possibly damaging	0.64
R7039:Or4a80	UTSW	2	89,583,095 (GRCm39)	missense	probably benign	0.01
R7088:Or4a80	UTSW	2	89,582,443 (GRCm39)	missense	probably benign	0.01
R7443:Or4a80	UTSW	2	89,582,285 (GRCm39)	missense	probably benign	0.01
R7444:Or4a80	UTSW	2	89,583,103 (GRCm39)	missense	probably benign	0.01
R7538:Or4a80	UTSW	2	89,582,665 (GRCm39)	missense	probably damaging	1.00
R7594:Or4a80	UTSW	2	89,582,906 (GRCm39)	missense	probably benign	0.32
R7818:Or4a80	UTSW	2	89,582,288 (GRCm39)	missense	possibly damaging	0.90
R7964:Or4a80	UTSW	2	89,583,158 (GRCm39)	missense	possibly damaging	0.63
R8358:Or4a80	UTSW	2	89,582,423 (GRCm39)	missense	probably benign	0.24
R8438:Or4a80	UTSW	2	89,583,061 (GRCm39)	missense	probably damaging	0.98
R8493:Or4a80	UTSW	2	89,582,599 (GRCm39)	missense	probably benign	0.06
R8724:Or4a80	UTSW	2	89,582,373 (GRCm39)	missense	probably damaging	1.00
R8785:Or4a80	UTSW	2	89,583,298 (GRCm39)	start gained	probably benign
R9668:Or4a80	UTSW	2	89,582,636 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTTGCCCAGTGCTTAGTC -3'
(R):5'- GCATGTACTGACACCTACTTCC -3'

Sequencing Primer
(F):5'- CCCAGTGCTTAGTCATATGAGCAG -3'
(R):5'- CTTGGCCTCACTATCATTGCTAATGG -3'

Posted On

2014-08-25