Mutagenetix > Incidental Mutation

Incidental Mutation 'R4502:Or6aa1'

331856

Institutional Source

Beutler Lab

Gene Symbol

Or6aa1

Ensembl Gene

ENSMUSG00000039608

Gene Name

olfactory receptor family 6 subfamily AA member 1

Synonyms

MOR104-2, Olfr303, GA_x6K02T2NHDJ-9712819-9713778

MMRRC Submission

041754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86043704-86044743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86044485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 74 (T74S)

Ref Sequence

ENSEMBL: ENSMUSP00000149419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053958] [ENSMUST00000215234] [ENSMUST00000215532] [ENSMUST00000215733] [ENSMUST00000216409]

AlphaFold

Q8VFP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053958
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062459
Gene: ENSMUSG00000039608
AA Change: T74S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-52	PFAM
Pfam:7tm_1	41	307	4.9e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215234
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215532
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215733
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216409
AA Change: T74S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	A	C	3: 20,369,962 (GRCm39)	Y215D	probably damaging	Het
Arf5	T	C	6: 28,425,775 (GRCm39)	V123A	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,407,246 (GRCm39)	V1164A	possibly damaging	Het
Atp6v0d1	A	G	8: 106,292,430 (GRCm39)	C39R	probably damaging	Het
Bmp8a	T	A	4: 123,236,192 (GRCm39)	S104C	probably damaging	Het
Cand1	T	C	10: 119,052,572 (GRCm39)	T185A	probably benign	Het
Ccdc171	A	G	4: 83,782,560 (GRCm39)	E1284G	probably damaging	Het
Chodl	A	G	16: 78,728,332 (GRCm39)	S26G	possibly damaging	Het
Cic	C	T	7: 24,987,892 (GRCm39)	P620S	probably damaging	Het
Col3a1	T	C	1: 45,387,837 (GRCm39)		probably benign	Het
Dpyd	G	T	3: 118,591,186 (GRCm39)	G225C	probably damaging	Het
Dst	G	A	1: 34,286,772 (GRCm39)	V5560M	probably damaging	Het
Eea1	G	A	10: 95,875,427 (GRCm39)	E1233K	probably benign	Het
Fryl	T	C	5: 73,245,740 (GRCm39)	D1139G	probably damaging	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
Hc	T	C	2: 34,896,264 (GRCm39)	D1173G	probably benign	Het
Htr2a	T	A	14: 74,879,428 (GRCm39)	M19K	probably benign	Het
Kank4	G	A	4: 98,665,335 (GRCm39)	S653L	possibly damaging	Het
Kcnt2	G	T	1: 140,435,485 (GRCm39)	C484F	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klhl1	A	G	14: 96,755,282 (GRCm39)	S158P	probably benign	Het
Ldb2	T	C	5: 44,826,749 (GRCm39)	D62G	probably damaging	Het
Ldhb	T	C	6: 142,436,183 (GRCm39)	K329E	possibly damaging	Het
Mtmr7	T	C	8: 41,011,203 (GRCm39)	E285G	possibly damaging	Het
Or2p2	A	T	13: 21,256,916 (GRCm39)	I185N	probably damaging	Het
Or5k15	T	C	16: 58,710,539 (GRCm39)	I15V	probably benign	Het
Pi4kb	T	A	3: 94,903,918 (GRCm39)	H501Q	probably benign	Het
Ppargc1b	T	C	18: 61,435,750 (GRCm39)	K910R	probably benign	Het
Ppp1r12a	G	T	10: 108,085,339 (GRCm39)	R428I	probably benign	Het
Rbbp8nl	G	T	2: 179,920,989 (GRCm39)	T465N	possibly damaging	Het
Rpl5	T	C	5: 108,052,723 (GRCm39)	F223S	possibly damaging	Het
Scpep1	T	C	11: 88,835,211 (GRCm39)	K154R	probably benign	Het
Sil1	T	C	18: 35,450,928 (GRCm39)	Y249C	probably benign	Het
Slc12a1	T	A	2: 125,067,964 (GRCm39)	L1017Q	probably damaging	Het
Slc2a9	T	C	5: 38,556,154 (GRCm39)	N264S	probably benign	Het
Slc49a4	T	C	16: 35,539,787 (GRCm39)	M345V	probably benign	Het
Tdrd5	T	A	1: 156,128,334 (GRCm39)	M141L	probably benign	Het
Tdrd9	T	C	12: 111,960,259 (GRCm39)	C182R	probably damaging	Het
Thap4	T	C	1: 93,678,709 (GRCm39)		probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Tnks1bp1	C	T	2: 84,892,991 (GRCm39)	R973*	probably null	Het
Ulk3	A	G	9: 57,500,512 (GRCm39)	Y307C	probably damaging	Het
Usp25	T	C	16: 76,912,284 (GRCm39)	L1001P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,764 (GRCm39)	T39S	probably benign	Het
Vps33b	G	A	7: 79,937,655 (GRCm39)	A468T	possibly damaging	Het
Wnt9a	T	C	11: 59,219,363 (GRCm39)	S130P	probably damaging	Het
Zfp236	T	C	18: 82,655,079 (GRCm39)	E730G	probably benign	Het
Zfp689	C	A	7: 127,047,925 (GRCm39)	V36L	probably benign	Het
Zfp938	A	G	10: 82,062,105 (GRCm39)	S172P	possibly damaging	Het

Other mutations in Or6aa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02228:Or6aa1	APN	7	86,044,286 (GRCm39)	missense	possibly damaging	0.50
IGL02902:Or6aa1	APN	7	86,043,743 (GRCm39)	utr 3 prime	probably benign
IGL02937:Or6aa1	APN	7	86,043,798 (GRCm39)	missense	possibly damaging	0.89
BB001:Or6aa1	UTSW	7	86,043,938 (GRCm39)	missense	probably damaging	1.00
BB011:Or6aa1	UTSW	7	86,043,938 (GRCm39)	missense	probably damaging	1.00
R1455:Or6aa1	UTSW	7	86,043,803 (GRCm39)	missense	probably damaging	0.97
R1524:Or6aa1	UTSW	7	86,044,020 (GRCm39)	missense	probably benign	0.01
R1762:Or6aa1	UTSW	7	86,044,353 (GRCm39)	missense	probably damaging	0.97
R3014:Or6aa1	UTSW	7	86,043,884 (GRCm39)	missense	probably benign	0.19
R3027:Or6aa1	UTSW	7	86,043,761 (GRCm39)	missense	probably benign	0.00
R4073:Or6aa1	UTSW	7	86,044,155 (GRCm39)	missense	probably damaging	0.98
R4503:Or6aa1	UTSW	7	86,044,485 (GRCm39)	missense	possibly damaging	0.49
R4607:Or6aa1	UTSW	7	86,043,718 (GRCm39)	splice site	probably null
R4608:Or6aa1	UTSW	7	86,043,718 (GRCm39)	splice site	probably null
R7134:Or6aa1	UTSW	7	86,044,752 (GRCm39)	start gained	probably benign
R7298:Or6aa1	UTSW	7	86,044,131 (GRCm39)	missense	probably damaging	1.00
R7827:Or6aa1	UTSW	7	86,043,765 (GRCm39)	nonsense	probably null
R7924:Or6aa1	UTSW	7	86,043,938 (GRCm39)	missense	probably damaging	1.00
R8160:Or6aa1	UTSW	7	86,044,473 (GRCm39)	missense	possibly damaging	0.61
R8294:Or6aa1	UTSW	7	86,044,487 (GRCm39)	missense	probably damaging	1.00
R9465:Or6aa1	UTSW	7	86,043,864 (GRCm39)	missense	probably benign	0.00
R9725:Or6aa1	UTSW	7	86,043,973 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCATGATGCAGCTGAAAACC -3'
(R):5'- TTCTAGGGTTTCCAGGCTCC -3'

Sequencing Primer
(F):5'- CTGAAAACCTCAGGCAAATGTG -3'
(R):5'- AGGCTCCTCTTCACTGCAG -3'

Posted On

2015-07-21