Mutagenetix > Incidental Mutation

Incidental Mutation 'R7175:Or1a1'

558564

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

045231-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74086331-74087272 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 74087004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 225 (L225*)

Ref Sequence

ENSEMBL: ENSMUSP00000145741 (fasta)

Gene Model

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

AlphaFold

Q7TRX2

Predicted Effect

probably null
Transcript: ENSMUST00000076675
AA Change: L225*

SMART Domains

Protein: ENSMUSP00000075971
Gene: ENSMUSG00000070378
AA Change: L225*

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 null
Transcript: ENSMUST00000206114
AA Change: L225*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,831,611 (GRCm39)	T1247I	probably benign	Het
Afdn	T	C	17: 14,108,869 (GRCm39)	L1479P	probably damaging	Het
Alox12e	T	C	11: 70,210,534 (GRCm39)	R363G	probably damaging	Het
Ank2	A	T	3: 126,740,590 (GRCm39)	S1765T	unknown	Het
Anks6	T	C	4: 47,046,268 (GRCm39)		probably null	Het
Apob	A	C	12: 8,057,034 (GRCm39)	I1839L	probably benign	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Ccs	T	A	19: 4,883,390 (GRCm39)	D136V	probably damaging	Het
Cd200	T	C	16: 45,220,578 (GRCm39)		probably null	Het
Cirbp	T	C	10: 80,006,297 (GRCm39)	S130P	probably benign	Het
Cpb1	A	G	3: 20,317,927 (GRCm39)	I199T	probably benign	Het
Csn3	C	T	5: 88,077,586 (GRCm39)	R31C	probably damaging	Het
Dcaf1	A	T	9: 106,735,775 (GRCm39)	I908F	probably benign	Het
Dhcr7	C	T	7: 143,399,227 (GRCm39)	T199I	probably damaging	Het
Dnah9	T	A	11: 66,024,463 (GRCm39)	Q277L	probably benign	Het
Echdc2	C	A	4: 108,031,366 (GRCm39)	P237T	probably damaging	Het
Efcab3	T	C	11: 104,838,237 (GRCm39)	V3625A	unknown	Het
Eif4g3	A	G	4: 137,853,526 (GRCm39)	N364S	probably damaging	Het
Eml6	T	A	11: 29,734,231 (GRCm39)	I1170L	probably benign	Het
Epha3	C	T	16: 63,403,863 (GRCm39)	R746Q	probably damaging	Het
Exosc5	G	A	7: 25,363,794 (GRCm39)	C102Y	probably damaging	Het
Fam91a1	A	T	15: 58,302,527 (GRCm39)	Y289F	probably benign	Het
Fbxo38	A	C	18: 62,648,544 (GRCm39)	F665V	probably benign	Het
Fcrl5	T	C	3: 87,353,645 (GRCm39)	V330A	probably benign	Het
Fer	T	A	17: 64,231,090 (GRCm39)	D280E	probably benign	Het
Gpr158	A	G	2: 21,373,113 (GRCm39)	H16R	probably benign	Het
Gzmg	C	T	14: 56,396,979 (GRCm39)	M1I	probably null	Het
Hectd4	C	T	5: 121,411,692 (GRCm39)	A456V	possibly damaging	Het
Hk2	T	A	6: 82,711,830 (GRCm39)	Q613L	probably benign	Het
Inhca	A	G	9: 103,128,988 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,938 (GRCm39)	F1121L	unknown	Het
Lztr1	G	T	16: 17,340,895 (GRCm39)	C557F	possibly damaging	Het
Mdn1	A	G	4: 32,694,634 (GRCm39)	Y1119C	probably damaging	Het
Nfkb1	A	T	3: 135,319,751 (GRCm39)	L248Q	probably damaging	Het
Or1p1b	T	C	11: 74,130,803 (GRCm39)	F138L	probably benign	Het
Or2g7	T	A	17: 38,378,370 (GRCm39)	S103T	probably damaging	Het
Or52e19	T	C	7: 102,959,054 (GRCm39)	V42A	probably benign	Het
Otulinl	A	C	15: 27,658,374 (GRCm39)	D165E	probably damaging	Het
Pate1	T	G	9: 35,596,408 (GRCm39)	D119A	probably damaging	Het
Pcdhgc4	T	C	18: 37,949,424 (GRCm39)	V280A	possibly damaging	Het
Pik3ap1	T	C	19: 41,275,929 (GRCm39)	D717G	probably damaging	Het
Prdm13	A	T	4: 21,679,473 (GRCm39)	L339Q	unknown	Het
Rasgrf1	T	A	9: 89,862,802 (GRCm39)	N519K	probably benign	Het
Rergl	A	G	6: 139,473,533 (GRCm39)	V39A	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sema4b	T	A	7: 79,848,402 (GRCm39)	M1K	probably null	Het
Slc20a1	T	G	2: 129,052,662 (GRCm39)	L648R	probably damaging	Het
Spata31h1	T	A	10: 82,122,583 (GRCm39)	S3476C	probably damaging	Het
Speg	A	G	1: 75,399,134 (GRCm39)	T2194A	probably benign	Het
Spns1	T	C	7: 125,972,961 (GRCm39)	D215G	probably damaging	Het
Tle4	A	T	19: 14,429,071 (GRCm39)	V717E	probably damaging	Het
Trim50	T	A	5: 135,382,151 (GRCm39)	M1K	probably null	Het
Trpa1	A	G	1: 14,963,431 (GRCm39)	V597A	possibly damaging	Het
Usp13	C	T	3: 32,971,757 (GRCm39)	Q746*	probably null	Het
Vmn1r35	A	T	6: 66,655,906 (GRCm39)	W255R	probably benign	Het
Vps35	A	T	8: 85,990,189 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,265,028 (GRCm39)		probably null	Het
Zfp318	T	A	17: 46,697,774 (GRCm39)	L210Q	probably damaging	Het
Zfp319	C	A	8: 96,055,410 (GRCm39)	K264N	probably damaging	Het
Zfp62	C	T	11: 49,107,580 (GRCm39)	S557L	probably damaging	Het
Zgrf1	T	C	3: 127,357,239 (GRCm39)	S822P	probably damaging	Het
Zxdc	A	G	6: 90,346,645 (GRCm39)	D2G	possibly damaging	Het
Zzef1	T	C	11: 72,742,727 (GRCm39)	I769T	possibly 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
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'- TCCTTCTGTGGCAATAAGGATG -3'
(R):5'- TTCAGAGCAGCCTTCATGTCC -3'

Sequencing Primer
(F):5'- AGGATGTGGCCAACTTCTAC -3'
(R):5'- TTCCTCAGGCTGTAGATGAAAG -3'

Posted On

2019-06-26