Mutagenetix > Incidental Mutation

Incidental Mutation 'R8957:Or1a1'

682116

Institutional Source

Beutler Lab

Gene Symbol

Or1a1

Ensembl Gene

ENSMUSG00000070378

Gene Name

olfactory receptor family 1 subfamily A member 1

Synonyms

GA_x6K02T2P1NL-4348188-4349129, MOR125-5_p, Olfr403, IA7

MMRRC Submission

068793-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R8957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74086331-74087272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74086772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 148 (S148T)

Ref Sequence

ENSEMBL: ENSMUSP00000145741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076675] [ENSMUST00000206114]

AlphaFold

Q7TRX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000076675
AA Change: S148T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075971
Gene: ENSMUSG00000070378
AA Change: S148T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	7.3e-59	PFAM
Pfam:7tm_1	41	238	7.2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206114
AA Change: S148T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (66/66)

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
1500011B03Rik	A	G	5: 114,951,891 (GRCm39)	V28A	probably benign	Het
Abca12	T	A	1: 71,360,784 (GRCm39)	D503V	possibly damaging	Het
Aco2	A	T	15: 81,773,701 (GRCm39)		probably benign	Het
Aff1	A	G	5: 103,981,634 (GRCm39)	Q591R	possibly damaging	Het
Ankle2	G	A	5: 110,379,121 (GRCm39)	A7T	possibly damaging	Het
Ankrd12	T	C	17: 66,291,491 (GRCm39)	N1314S	probably benign	Het
Apeh	A	T	9: 107,969,572 (GRCm39)	M216K	probably benign	Het
Armh1	T	C	4: 117,087,104 (GRCm39)	Y187C	probably damaging	Het
Ascc3	C	A	10: 50,576,208 (GRCm39)	A821E	probably damaging	Het
Atf7ip	A	G	6: 136,543,701 (GRCm39)	D650G	probably null	Het
Cav1	T	A	6: 17,339,235 (GRCm39)	F107I	probably benign	Het
Ccdc146	A	G	5: 21,514,585 (GRCm39)		probably benign	Het
Ccdc57	A	G	11: 120,776,861 (GRCm39)	I513T	probably benign	Het
Ccrl2	T	C	9: 110,884,557 (GRCm39)	R314G	probably benign	Het
Cd1d1	T	C	3: 86,906,140 (GRCm39)	D45G	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Col4a1	T	A	8: 11,295,906 (GRCm39)		probably benign	Het
Cux2	C	T	5: 121,999,011 (GRCm39)	G1310R	probably benign	Het
Cyld	G	T	8: 89,432,410 (GRCm39)	R136L	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Dchs2	G	A	3: 83,189,573 (GRCm39)	V1646M		Het
Des	A	T	1: 75,340,295 (GRCm39)	I401F	probably damaging	Het
Dis3	T	C	14: 99,337,027 (GRCm39)	D28G	probably damaging	Het
Dnai4	T	C	4: 102,953,950 (GRCm39)	D83G	probably damaging	Het
Ehd1	A	G	19: 6,344,439 (GRCm39)	Y233C	probably damaging	Het
Fcrlb	G	A	1: 170,735,536 (GRCm39)	A246V	probably benign	Het
Firrm	C	T	1: 163,792,335 (GRCm39)	R554H	probably damaging	Het
Fnta	T	C	8: 26,489,541 (GRCm39)	R357G	probably benign	Het
Fpgs	T	C	2: 32,575,354 (GRCm39)	D420G	probably damaging	Het
Hdac4	T	C	1: 91,873,757 (GRCm39)		probably null	Het
Hdhd5	C	T	6: 120,495,404 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,772,154 (GRCm39)	R1342C	probably damaging	Het
Isyna1	T	G	8: 71,049,372 (GRCm39)	L428R	probably damaging	Het
Jmjd4	C	T	11: 59,340,884 (GRCm39)		probably benign	Het
Klra1	A	G	6: 130,357,609 (GRCm39)	V6A	possibly damaging	Het
Klrb1b	T	A	6: 128,795,522 (GRCm39)	K124N	probably benign	Het
Krtap19-3	T	C	16: 88,674,833 (GRCm39)		probably benign	Het
Lrrc74b	T	C	16: 17,378,976 (GRCm39)	T34A	probably benign	Het
Map9	A	G	3: 82,278,687 (GRCm39)	Y229C	probably benign	Het
Mmp28	T	C	11: 83,334,636 (GRCm39)	I373V	possibly damaging	Het
Mpdz	A	T	4: 81,251,216 (GRCm39)	Y1086*	probably null	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	A	G	11: 67,141,780 (GRCm39)	K880E	possibly damaging	Het
Nav2	T	G	7: 49,220,964 (GRCm39)	V1656G	probably damaging	Het
Or12d13	A	G	17: 37,647,382 (GRCm39)	V247A	probably damaging	Het
Or5b101	T	A	19: 13,004,881 (GRCm39)	I271F	probably benign	Het
Pate2	T	C	9: 35,596,911 (GRCm39)	W100R	probably benign	Het
Pcdhb11	A	C	18: 37,554,692 (GRCm39)	K7N	probably benign	Het
Pcdhb11	A	G	18: 37,555,872 (GRCm39)	T401A	probably benign	Het
Pgam1	T	A	19: 41,905,215 (GRCm39)	I183N	possibly damaging	Het
Pou5f1	T	G	17: 35,821,366 (GRCm39)	L326R	possibly damaging	Het
Rbm34	A	C	8: 127,692,208 (GRCm39)	V178G	probably benign	Het
Rc3h2	A	G	2: 37,289,660 (GRCm39)	V384A	possibly damaging	Het
Sec62	T	A	3: 30,864,671 (GRCm39)	F178L	unknown	Het
Slco1a6	T	C	6: 142,091,493 (GRCm39)	N69S	probably damaging	Het
Smok2b	T	A	17: 13,453,873 (GRCm39)	L11Q	probably damaging	Het
Snai2	T	C	16: 14,526,113 (GRCm39)	S255P	probably damaging	Het
Spata31h1	A	G	10: 82,124,908 (GRCm39)	Y2701H	probably benign	Het
Tesk2	T	A	4: 116,659,910 (GRCm39)	F343I	probably benign	Het
Tmem106c	A	T	15: 97,867,481 (GRCm39)	I222F	probably benign	Het
Tmub1	G	T	5: 24,651,775 (GRCm39)	T63K	probably benign	Het
Tnip3	A	G	6: 65,582,843 (GRCm39)	T217A	probably benign	Het
Vmn2r10	T	G	5: 109,149,780 (GRCm39)	K421N	possibly damaging	Het
Zfp975	A	T	7: 42,311,157 (GRCm39)	H485Q	probably damaging	Het

Other mutations in Or1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Or1a1	APN	11	74,086,587 (GRCm39)	missense	probably damaging	1.00
IGL01716:Or1a1	APN	11	74,087,207 (GRCm39)	missense	probably benign	0.01
R0598:Or1a1	UTSW	11	74,086,658 (GRCm39)	missense	possibly damaging	0.90
R1168:Or1a1	UTSW	11	74,087,247 (GRCm39)	missense	probably benign
R1440:Or1a1	UTSW	11	74,086,505 (GRCm39)	missense	probably damaging	1.00
R1657:Or1a1	UTSW	11	74,086,722 (GRCm39)	missense	probably damaging	0.98
R1834:Or1a1	UTSW	11	74,086,479 (GRCm39)	missense	probably benign	0.00
R1990:Or1a1	UTSW	11	74,086,989 (GRCm39)	missense	probably damaging	0.99
R1991:Or1a1	UTSW	11	74,086,989 (GRCm39)	missense	probably damaging	0.99
R2206:Or1a1	UTSW	11	74,087,150 (GRCm39)	missense	possibly damaging	0.87
R2207:Or1a1	UTSW	11	74,087,150 (GRCm39)	missense	possibly damaging	0.87
R3103:Or1a1	UTSW	11	74,086,901 (GRCm39)	missense	probably benign	0.39
R4662:Or1a1	UTSW	11	74,086,542 (GRCm39)	missense	probably damaging	1.00
R4844:Or1a1	UTSW	11	74,086,902 (GRCm39)	missense	probably damaging	0.98
R5336:Or1a1	UTSW	11	74,086,859 (GRCm39)	missense	probably damaging	1.00
R5918:Or1a1	UTSW	11	74,086,944 (GRCm39)	missense	probably damaging	0.96
R6858:Or1a1	UTSW	11	74,086,925 (GRCm39)	missense	probably benign	0.01
R7175:Or1a1	UTSW	11	74,087,004 (GRCm39)	nonsense	probably null
R7362:Or1a1	UTSW	11	74,086,412 (GRCm39)	missense	probably benign	0.01
R7670:Or1a1	UTSW	11	74,087,033 (GRCm39)	missense	probably damaging	1.00
R8677:Or1a1	UTSW	11	74,086,415 (GRCm39)	missense	probably benign	0.00
R9029:Or1a1	UTSW	11	74,086,563 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ATTCCCAAGATGCTGGCCAAC -3'
(R):5'- TGATGATGCACAGCAGTGGC -3'

Sequencing Primer
(F):5'- AGGTAGCAAGGCCATCTCCTTTG -3'
(R):5'- GTGGCACAGAGAAGACCCC -3'

Posted On

2021-08-31