Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Or3a1'

222529

Institutional Source

Beutler Lab

Gene Symbol

Or3a1

Ensembl Gene

ENSMUSG00000063116

Gene Name

olfactory receptor family 3 subfamily A member 1

Synonyms

Olfr410, GA_x6K02T2P1NL-4467421-4466474, MOR255-5

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74225108-74226055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74225212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 282 (T282S)

Ref Sequence

ENSEMBL: ENSMUSP00000150291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052254] [ENSMUST00000213831] [ENSMUST00000214490]

AlphaFold

Q8VFX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052254
AA Change: T282S

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

SMART Domains

Protein: ENSMUSP00000050456
Gene: ENSMUSG00000063116
AA Change: T282S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	5.4e-53	PFAM
Pfam:7TM_GPCR_Srsx	38	253	5e-6	PFAM
Pfam:7tm_1	44	293	7.7e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213831
AA Change: T282S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214490
AA Change: T282S

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

Meta Mutation Damage Score

0.1393

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,519,855 (GRCm39)	N1387K	probably benign	Het
Abca13	T	C	11: 9,141,987 (GRCm39)	F8L	probably benign	Het
Abcg5	G	T	17: 84,977,348 (GRCm39)	L270M	probably damaging	Het
Acad10	A	G	5: 121,772,814 (GRCm39)	L489S	probably damaging	Het
Acsf2	G	A	11: 94,462,466 (GRCm39)	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,059,909 (GRCm39)	E282V	probably damaging	Het
Adcy4	C	T	14: 56,015,770 (GRCm39)	G440R	possibly damaging	Het
AI429214	G	A	8: 37,460,923 (GRCm39)	V24I	probably benign	Het
Angptl3	T	C	4: 98,925,634 (GRCm39)	I320T	probably damaging	Het
Apoa5	A	T	9: 46,181,665 (GRCm39)	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,436,875 (GRCm39)	V811G	probably damaging	Het
Bard1	C	T	1: 71,070,562 (GRCm39)	V641I	probably benign	Het
Calb2	T	C	8: 110,894,702 (GRCm39)	E23G	probably benign	Het
Cdkl4	A	G	17: 80,863,730 (GRCm39)		probably benign	Het
Cep85l	A	G	10: 53,154,171 (GRCm39)		probably benign	Het
Cfap91	T	C	16: 38,118,616 (GRCm39)	I728V	probably benign	Het
Chd1	G	T	17: 15,951,268 (GRCm39)	G281V	probably damaging	Het
Col17a1	C	T	19: 47,656,141 (GRCm39)	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833 (GRCm39)	D66V	probably damaging	Het
Csde1	A	T	3: 102,952,107 (GRCm39)	I204L	probably damaging	Het
Dchs1	A	T	7: 105,404,532 (GRCm39)	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,124,578 (GRCm39)	V428A	probably benign	Het
Dgkh	T	A	14: 78,840,489 (GRCm39)	D530V	probably benign	Het
Dis3l	A	T	9: 64,215,558 (GRCm39)		probably null	Het
Dst	T	G	1: 34,265,093 (GRCm39)		probably benign	Het
Eml6	C	T	11: 29,798,814 (GRCm39)		probably null	Het
En1	A	T	1: 120,531,133 (GRCm39)	E124D	probably benign	Het
Exo1	G	A	1: 175,736,096 (GRCm39)	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099 (GRCm39)	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,997,580 (GRCm39)		probably benign	Het
Foxp2	G	A	6: 15,396,818 (GRCm39)	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,595,047 (GRCm39)	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,103,444 (GRCm39)	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,391,657 (GRCm39)	I155T	unknown	Het
Hmcn2	A	G	2: 31,328,267 (GRCm39)	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,046,824 (GRCm39)		probably benign	Het
Hpx	G	A	7: 105,244,781 (GRCm39)	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,559,629 (GRCm39)	E151A	probably benign	Het
Krt6b	A	T	15: 101,586,562 (GRCm39)	L309H	probably damaging	Het
Lce1c	G	T	3: 92,587,765 (GRCm39)	C64F	unknown	Het
Marchf6	C	T	15: 31,462,087 (GRCm39)		probably null	Het
Myt1	C	A	2: 181,437,552 (GRCm39)	R88S	probably benign	Het
Nemp1	A	G	10: 127,529,446 (GRCm39)	S194G	probably benign	Het
Nphp4	A	G	4: 152,639,111 (GRCm39)	K914R	probably damaging	Het
Osbp	T	C	19: 11,951,265 (GRCm39)	M270T	probably benign	Het
Parg	T	C	14: 31,932,531 (GRCm39)	M457T	possibly damaging	Het
Phf20	T	C	2: 156,129,874 (GRCm39)	M482T	probably benign	Het
Pik3c2a	G	A	7: 115,941,472 (GRCm39)	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,798,759 (GRCm39)	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,944,216 (GRCm39)	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,456,744 (GRCm39)	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,821,110 (GRCm39)	T65S	probably benign	Het
Sipa1l2	G	A	8: 126,166,176 (GRCm39)	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,068,968 (GRCm39)	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,931,628 (GRCm39)	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,728,718 (GRCm39)	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,277,861 (GRCm39)	F301S	probably damaging	Het
Tmem233	A	C	5: 116,189,496 (GRCm39)	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,243,843 (GRCm39)	D193G	probably damaging	Het
Tprkb	T	C	6: 85,910,030 (GRCm39)		probably benign	Het
Tram1l1	A	G	3: 124,115,488 (GRCm39)	H216R	possibly damaging	Het
Ttn	A	G	2: 76,564,484 (GRCm39)	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,320,547 (GRCm39)	N25S	possibly damaging	Het
Unc80	C	A	1: 66,542,935 (GRCm39)	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,332,012 (GRCm39)	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,566,927 (GRCm39)	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,824,101 (GRCm39)	I995V	probably null	Het

Other mutations in Or3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02103:Or3a1	APN	11	74,225,862 (GRCm39)	missense	probably damaging	1.00
IGL02885:Or3a1	APN	11	74,225,519 (GRCm39)	missense	possibly damaging	0.95
R0363:Or3a1	UTSW	11	74,225,925 (GRCm39)	missense	probably damaging	1.00
R1033:Or3a1	UTSW	11	74,225,462 (GRCm39)	missense	possibly damaging	0.48
R1722:Or3a1	UTSW	11	74,225,271 (GRCm39)	missense	probably damaging	1.00
R1759:Or3a1	UTSW	11	74,225,808 (GRCm39)	missense	possibly damaging	0.49
R2278:Or3a1	UTSW	11	74,225,991 (GRCm39)	missense	probably benign	0.00
R4756:Or3a1	UTSW	11	74,225,402 (GRCm39)	missense	probably benign
R5382:Or3a1	UTSW	11	74,225,806 (GRCm39)	missense	probably benign	0.00
R6026:Or3a1	UTSW	11	74,225,914 (GRCm39)	missense	probably damaging	0.99
R6048:Or3a1	UTSW	11	74,225,961 (GRCm39)	missense	probably benign	0.13
R8488:Or3a1	UTSW	11	74,225,932 (GRCm39)	missense	probably benign	0.01
R9134:Or3a1	UTSW	11	74,225,670 (GRCm39)	missense	probably damaging	1.00
R9368:Or3a1	UTSW	11	74,225,193 (GRCm39)	missense	probably damaging	1.00
X0067:Or3a1	UTSW	11	74,225,776 (GRCm39)	missense	probably benign	0.00
Z1088:Or3a1	UTSW	11	74,225,518 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCTGTGGGCAACAATAATTATC -3'
(R):5'- AGCTGCAGTTCTGCGAATCC -3'

Sequencing Primer
(F):5'- CTGTGGGCAACAATAATTATCATCCC -3'
(R):5'- AATCCGCTCTGCTGAAGG -3'

Posted On

2014-08-25