Mutagenetix > Incidental Mutation

Incidental Mutation 'R5918:Or1a1'

461483

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

044115-MU

Accession Numbers

Essential gene?

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

Stock #

R5918 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74086331-74087272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74086944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 205 (V205A)

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: V205A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075971
Gene: ENSMUSG00000070378
AA Change: V205A

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: V205A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206247

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

93% (66/71)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	T	5: 36,131,869 (GRCm39)	I399F	possibly damaging	Het
Aknad1	C	T	3: 108,659,703 (GRCm39)	P239L	probably benign	Het
Ankrd9	A	G	12: 110,943,200 (GRCm39)	V245A	probably benign	Het
Anxa1	T	C	19: 20,355,857 (GRCm39)		probably benign	Het
Arhgef2	A	G	3: 88,543,387 (GRCm39)	K454R	probably damaging	Het
AU040320	A	G	4: 126,708,064 (GRCm39)	T227A	probably benign	Het
Bbs2	C	T	8: 94,824,931 (GRCm39)	R17H	probably damaging	Het
Bcl2l12	A	G	7: 44,640,888 (GRCm39)		probably benign	Het
C1qtnf9	G	T	14: 61,009,737 (GRCm39)		probably benign	Het
Ccdc38	C	G	10: 93,406,748 (GRCm39)	Y219*	probably null	Het
Ceacam3	G	T	7: 16,893,670 (GRCm39)	D394Y	probably damaging	Het
Crip1	A	C	12: 113,117,287 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,260,803 (GRCm39)	V1987A	probably benign	Het
Dnah9	C	A	11: 65,725,025 (GRCm39)	C4376F	probably damaging	Het
Galnt9	T	C	5: 110,763,332 (GRCm39)	F446L	probably damaging	Het
Garin1a	A	G	6: 29,285,942 (GRCm39)	R76G	probably null	Het
Gm14322	A	G	2: 177,411,499 (GRCm39)	D103G	probably benign	Het
Gpa33	T	C	1: 165,958,107 (GRCm39)		probably null	Het
Lactb2	T	A	1: 13,720,954 (GRCm39)	I93F	probably benign	Het
Lifr	A	T	15: 7,188,897 (GRCm39)	T93S	probably benign	Het
Lmbr1l	A	T	15: 98,810,308 (GRCm39)	I101N	probably damaging	Het
Lrrc8c	G	A	5: 105,756,117 (GRCm39)	V631M	possibly damaging	Het
Mctp2	A	C	7: 71,878,288 (GRCm39)	D263E	probably damaging	Het
Nbeal1	T	A	1: 60,307,051 (GRCm39)	I1627N	possibly damaging	Het
Neb	T	C	2: 52,087,906 (GRCm39)	Y5188C	probably damaging	Het
Nf1	T	C	11: 79,460,048 (GRCm39)		probably benign	Het
Nr6a1	T	C	2: 38,629,103 (GRCm39)	D250G	probably damaging	Het
Ola1	T	C	2: 72,987,128 (GRCm39)	E168G	probably benign	Het
Or2d2b	T	A	7: 106,705,828 (GRCm39)	Q80L	probably damaging	Het
Or4k2	A	G	14: 50,424,425 (GRCm39)	I83T	probably benign	Het
Or7g22	T	C	9: 19,048,684 (GRCm39)	Y132H	probably damaging	Het
Or9i1b	T	A	19: 13,897,139 (GRCm39)	F252I	probably damaging	Het
Pik3r6	C	T	11: 68,416,497 (GRCm39)	Q29*	probably null	Het
Ppargc1a	C	T	5: 51,620,579 (GRCm39)		probably benign	Het
Ppl	C	T	16: 4,922,765 (GRCm39)	R242H	probably benign	Het
Ppp1r37	G	T	7: 19,266,036 (GRCm39)	Q577K	probably benign	Het
Prcd	A	G	11: 116,548,366 (GRCm39)	E25G	probably damaging	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Ptgs1	A	C	2: 36,141,089 (GRCm39)	E512A	probably damaging	Het
Radil	T	G	5: 142,473,357 (GRCm39)	I535L	probably benign	Het
Rbl2	G	T	8: 91,816,758 (GRCm39)	V373F	probably benign	Het
Ryr1	T	C	7: 28,708,577 (GRCm39)	Y4802C	probably benign	Het
Sdc2	A	G	15: 33,028,313 (GRCm39)	T144A	probably benign	Het
Senp6	T	C	9: 80,021,398 (GRCm39)		probably null	Het
Sipa1l3	T	C	7: 29,096,631 (GRCm39)	D531G	probably damaging	Het
Slc22a27	C	A	19: 7,887,411 (GRCm39)	C189F	possibly damaging	Het
Srcin1	T	C	11: 97,424,323 (GRCm39)		probably null	Het
Svep1	C	T	4: 58,069,345 (GRCm39)	E2814K	possibly damaging	Het
Tjp3	T	G	10: 81,113,746 (GRCm39)	H504P	probably benign	Het
Tmprss4	T	A	9: 45,086,414 (GRCm39)	K378*	probably null	Het
Tns4	C	T	11: 98,964,497 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,580,298 (GRCm39)	T15205A	possibly damaging	Het
Ush2a	G	T	1: 188,089,011 (GRCm39)	G322V	probably benign	Het
Vac14	A	T	8: 111,363,104 (GRCm39)		probably null	Het
Vmn1r175	T	G	7: 23,508,372 (GRCm39)	D85A	probably damaging	Het
Vmn2r93	T	C	17: 18,546,030 (GRCm39)	L634P	probably damaging	Het
Zeb2	A	T	2: 45,001,271 (GRCm39)		probably benign	Het
Zfp616	T	A	11: 73,974,086 (GRCm39)	H118Q	possibly damaging	Het
Zfp945	T	A	17: 23,069,955 (GRCm39)	H648L	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
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'- CGCCCGCTTCATTATGCAAC -3'
(R):5'- GCCGGAAATACATGCCCATG -3'

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

Posted On

2017-02-28