Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Or2ah1'

548669

Institutional Source

Beutler Lab

Gene Symbol

Or2ah1

Ensembl Gene

ENSMUSG00000043892

Gene Name

olfactory receptor family 2 subfamily AH member 1

Synonyms

GA_x6K02T2Q125-47301584-47302519, Olfr1018, MOR260-5

MMRRC Submission

045164-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R7068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85653317-85654252 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85653396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 27 (V27A)

Ref Sequence

ENSEMBL: ENSMUSP00000151090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]

AlphaFold

A2ASV3

Predicted Effect

probably benign
Transcript: ENSMUST00000054201
AA Change: V27A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	4.1e-59	PFAM
Pfam:7tm_1	42	291	1.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214416
AA Change: V27A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,221,803 (GRCm39)	H24R	probably benign	Het
Ago2	A	T	15: 73,018,299 (GRCm39)	F46L	probably damaging	Het
Amd1	A	G	10: 40,166,508 (GRCm39)	F123L	probably benign	Het
Arhgef10	T	C	8: 15,008,639 (GRCm39)	F546L	probably damaging	Het
Asic2	G	A	11: 81,043,081 (GRCm39)	H71Y	probably benign	Het
Asphd1	A	G	7: 126,547,850 (GRCm39)	V151A	probably benign	Het
Best3	T	C	10: 116,824,543 (GRCm39)	V3A	probably damaging	Het
C4b	A	G	17: 34,952,451 (GRCm39)	L1196P	probably damaging	Het
Cd22	A	G	7: 30,577,504 (GRCm39)	V3A	probably benign	Het
Cdkl3	T	C	11: 51,902,154 (GRCm39)		probably null	Het
Clcnka	A	T	4: 141,114,421 (GRCm39)	V631E	probably damaging	Het
Cmya5	A	G	13: 93,229,205 (GRCm39)	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,597,355 (GRCm39)	E3559G	probably benign	Het
Emsy	A	T	7: 98,259,968 (GRCm39)	D39E	probably benign	Het
Fbxl16	G	T	17: 26,038,485 (GRCm39)	V477F	possibly damaging	Het
Flt1	A	T	5: 147,610,444 (GRCm39)	I393N	probably damaging	Het
Gabra4	A	T	5: 71,729,402 (GRCm39)	N433K	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Ghsr	T	A	3: 27,425,986 (GRCm39)	V14D	probably benign	Het
Glb1l	A	G	1: 75,179,381 (GRCm39)	Y183H	probably damaging	Het
Hycc1	A	G	5: 24,169,793 (GRCm39)	S519P	possibly damaging	Het
Ighv3-4	T	C	12: 114,217,274 (GRCm39)	T106A	probably damaging	Het
Ik	T	G	18: 36,888,518 (GRCm39)	F439V	possibly damaging	Het
Itih5	T	C	2: 10,254,115 (GRCm39)	S789P	probably damaging	Het
Kcnj8	T	C	6: 142,511,965 (GRCm39)	D214G	probably damaging	Het
Kdm5a	C	A	6: 120,407,176 (GRCm39)	H1464N	probably benign	Het
Klb	A	T	5: 65,536,683 (GRCm39)	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,960,859 (GRCm39)	R421L	possibly damaging	Het
Mroh9	T	A	1: 162,866,750 (GRCm39)	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,756 (GRCm39)	M278R	probably null	Het
Ndufa8	T	C	2: 35,934,447 (GRCm39)	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,338,722 (GRCm39)	R695S	probably damaging	Het
Nuf2	G	A	1: 169,349,988 (GRCm39)	P97S	probably damaging	Het
Or14c46	A	C	7: 85,918,745 (GRCm39)	L84R	probably damaging	Het
Or5ac24	T	C	16: 59,165,567 (GRCm39)	T166A	possibly damaging	Het
P4ha2	A	G	11: 54,001,820 (GRCm39)	T33A	probably benign	Het
Parp1	A	G	1: 180,416,233 (GRCm39)	H544R	probably damaging	Het
Plec	A	G	15: 76,061,969 (GRCm39)	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,379 (GRCm39)	Y85*	probably null	Het
Sema6d	A	G	2: 124,499,741 (GRCm39)	I309V	probably benign	Het
Skint2	T	C	4: 112,481,548 (GRCm39)	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,109,877 (GRCm39)	N130S	probably benign	Het
Slc35f1	T	C	10: 52,938,596 (GRCm39)	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,232,144 (GRCm39)	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,014,952 (GRCm39)	T506A	probably damaging	Het
Smchd1	A	T	17: 71,694,087 (GRCm39)	S1219R	probably benign	Het
Smco1	A	G	16: 32,092,929 (GRCm39)	N200S	probably benign	Het
Srcap	A	G	7: 127,141,115 (GRCm39)	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,207 (GRCm39)	T459I	probably benign	Het
Tarbp1	C	T	8: 127,153,773 (GRCm39)	A1560T	probably damaging	Het
Tcl1b1	T	A	12: 105,125,952 (GRCm39)		probably benign	Het
Tdrd5	T	C	1: 156,111,841 (GRCm39)	E436G	probably damaging	Het
Trim31	T	A	17: 37,209,408 (GRCm39)	C55S	probably damaging	Het
Tsr1	G	T	11: 74,794,745 (GRCm39)	E467*	probably null	Het
Tulp4	T	A	17: 6,235,564 (GRCm39)	D178E	probably damaging	Het
Vmn1r30	A	G	6: 58,411,995 (GRCm39)	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,285,575 (GRCm39)	R132G	probably benign	Het

Other mutations in Or2ah1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Or2ah1	APN	2	85,653,332 (GRCm39)	missense	probably benign	0.00
IGL02795:Or2ah1	APN	2	85,653,856 (GRCm39)	nonsense	probably null
IGL03189:Or2ah1	APN	2	85,653,902 (GRCm39)	missense	probably benign	0.27
IGL03329:Or2ah1	APN	2	85,653,729 (GRCm39)	missense	probably benign	0.02
IGL03400:Or2ah1	APN	2	85,654,094 (GRCm39)	missense	probably damaging	1.00
G1patch:Or2ah1	UTSW	2	85,654,134 (GRCm39)	missense	probably damaging	0.97
IGL02796:Or2ah1	UTSW	2	85,653,933 (GRCm39)	missense	probably benign	0.00
R5322:Or2ah1	UTSW	2	85,653,531 (GRCm39)	missense	probably damaging	0.99
R5597:Or2ah1	UTSW	2	85,653,804 (GRCm39)	missense	probably damaging	0.96
R6521:Or2ah1	UTSW	2	85,653,794 (GRCm39)	missense	probably benign	0.01
R6725:Or2ah1	UTSW	2	85,654,134 (GRCm39)	missense	probably damaging	0.97
R7105:Or2ah1	UTSW	2	85,654,224 (GRCm39)	missense	probably benign	0.22
R8011:Or2ah1	UTSW	2	85,653,957 (GRCm39)	missense	possibly damaging	0.90
R8294:Or2ah1	UTSW	2	85,653,531 (GRCm39)	missense	probably damaging	0.99
R9160:Or2ah1	UTSW	2	85,653,318 (GRCm39)	start codon destroyed	probably null	0.37
Z1176:Or2ah1	UTSW	2	85,653,365 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGGGCATCTTATCATTTGCAC -3'
(R):5'- CACCATGTTGGAAAGCATCTG -3'

Sequencing Primer
(F):5'- TTTGCACTAAAGTTCAGACACC -3'
(R):5'- GCATCTGCGGAACATTAGTG -3'

Posted On

2019-05-13