Mutagenetix > Incidental Mutation

Incidental Mutation 'R4844:Or1a1'

372062

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

042457-MU

Accession Numbers

Essential gene?

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

Stock #

R4844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74086331-74087272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74086902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 191 (D191G)

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: D191G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075971
Gene: ENSMUSG00000070378
AA Change: D191G

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: D191G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206247

Meta Mutation Damage Score

0.4052

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (68/70)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,634,824 (GRCm39)	T147A	probably benign	Het
Acvrl1	T	C	15: 101,033,409 (GRCm39)	S99P	probably damaging	Het
Adamts3	T	A	5: 89,825,675 (GRCm39)	S1055C	probably damaging	Het
Aftph	T	C	11: 20,658,667 (GRCm39)		probably benign	Het
Aldh1a1	A	G	19: 20,611,764 (GRCm39)	K363E	probably benign	Het
Astn2	A	G	4: 65,562,967 (GRCm39)	V886A	possibly damaging	Het
Atad5	G	A	11: 80,005,137 (GRCm39)		probably null	Het
C9orf72	A	G	4: 35,213,565 (GRCm39)	V31A	possibly damaging	Het
Ccnf	G	T	17: 24,449,331 (GRCm39)	Y482*	probably null	Het
Cfap97	A	G	8: 46,622,712 (GRCm39)	D34G	possibly damaging	Het
Chst11	G	T	10: 83,026,923 (GRCm39)	E117*	probably null	Het
Cobl	A	T	11: 12,204,740 (GRCm39)	L572Q	probably benign	Het
Coch	G	A	12: 51,649,477 (GRCm39)	G263S	probably damaging	Het
Coq4	T	C	2: 29,686,026 (GRCm39)	I205T	possibly damaging	Het
Cyp3a13	A	T	5: 137,915,813 (GRCm39)	I62K	probably benign	Het
Cyp7a1	A	G	4: 6,273,655 (GRCm39)	S84P	probably damaging	Het
Dennd10	GTCT	GT	19: 60,823,435 (GRCm39)		probably null	Het
G6pc3	G	A	11: 102,084,057 (GRCm39)		probably null	Het
Gm10576	T	C	4: 100,911,707 (GRCm39)		noncoding transcript	Het
Gm17511	G	A	7: 126,885,454 (GRCm39)		noncoding transcript	Het
Gnat2	T	C	3: 108,002,831 (GRCm39)	S80P	probably damaging	Het
Gpaa1	C	T	15: 76,216,508 (GRCm39)		probably benign	Het
Gpr107	T	A	2: 31,078,686 (GRCm39)		probably null	Het
Hormad1	T	C	3: 95,478,242 (GRCm39)	Y103H	probably damaging	Het
Ighv14-1	T	G	12: 113,895,622 (GRCm39)	Q101P	probably damaging	Het
Igsf9	A	G	1: 172,324,737 (GRCm39)	D885G	probably benign	Het
Il15ra	G	A	2: 11,723,082 (GRCm39)		probably benign	Het
Islr2	C	T	9: 58,115,517 (GRCm39)		probably benign	Het
Jak3	A	T	8: 72,134,299 (GRCm39)	N467I	possibly damaging	Het
Jarid2	T	C	13: 45,067,248 (GRCm39)	V1023A	probably damaging	Het
Kcnn2	A	T	18: 45,816,187 (GRCm39)	T333S	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2c	T	C	5: 25,520,111 (GRCm39)	T2000A	probably benign	Het
Lpxn	A	G	19: 12,810,536 (GRCm39)	T327A	probably damaging	Het
Mxra8	A	G	4: 155,927,151 (GRCm39)	T362A	probably benign	Het
Myh6	A	G	14: 55,184,651 (GRCm39)	I1560T	possibly damaging	Het
Ndufv1	A	G	19: 4,062,574 (GRCm39)	S17P	probably benign	Het
Nwd1	A	T	8: 73,393,742 (GRCm39)	H335L	probably damaging	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Otop2	G	A	11: 115,214,201 (GRCm39)		probably null	Het
Pwwp2b	C	A	7: 138,835,502 (GRCm39)	S314R	probably benign	Het
Rfx7	C	T	9: 72,500,524 (GRCm39)	Q95*	probably null	Het
Serpine2	A	T	1: 79,777,241 (GRCm39)	L192*	probably null	Het
Smpdl3b	T	C	4: 132,465,369 (GRCm39)	I322M	probably damaging	Het
Spata31d1b	C	T	13: 59,866,169 (GRCm39)	R1106C	possibly damaging	Het
Sprr2k	T	G	3: 92,336,732 (GRCm39)		probably null	Het
St8sia1	T	A	6: 142,774,996 (GRCm39)	R194S	possibly damaging	Het
Sv2a	T	A	3: 96,095,695 (GRCm39)	V337D	probably damaging	Het
Tars1	G	A	15: 11,385,281 (GRCm39)	R637W	possibly damaging	Het
Tcp11l2	G	T	10: 84,449,555 (GRCm39)	V507L	probably benign	Het
Tpr	T	C	1: 150,321,630 (GRCm39)	Y2262H	possibly damaging	Het
Vars1	A	G	17: 35,230,588 (GRCm39)	E529G	probably damaging	Het
Vash2	C	T	1: 190,710,691 (GRCm39)		probably benign	Het
Vmn1r194	T	C	13: 22,429,223 (GRCm39)	V280A	probably benign	Het
Vti1a	A	G	19: 55,380,297 (GRCm39)	T142A	probably damaging	Het
Zfp111	C	T	7: 23,898,801 (GRCm39)	C270Y	probably damaging	Het
Zfp518a	T	A	19: 40,903,340 (GRCm39)	Y1090N	probably damaging	Het
Zfp616	A	T	11: 73,975,225 (GRCm39)	Y498F	probably benign	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
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
R8957:Or1a1	UTSW	11	74,086,772 (GRCm39)	missense	probably damaging	1.00
R9029:Or1a1	UTSW	11	74,086,563 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGTCGCCCGCTTCATTATGC -3'
(R):5'- GGAAATACATGCCCATGACTG -3'

Sequencing Primer
(F):5'- GCCCGCTTCATTATGCAACAATTATG -3'
(R):5'- TGCCCATGACTGTCCCATAATAC -3'

Posted On

2016-03-01