Mutagenetix > Incidental Mutation

Incidental Mutation 'R6092:Or2av9'

485998

Institutional Source

Beutler Lab

Gene Symbol

Or2av9

Ensembl Gene

ENSMUSG00000050813

Gene Name

olfactory receptor family 2 subfamily AV member 9

Synonyms

GA_x6K02T2NKPP-926908-927915, Olfr332, MOR284-2

MMRRC Submission

044249-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58380545-58383325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58380900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 227 (M227K)

Ref Sequence

ENSEMBL: ENSMUSP00000136008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180165] [ENSMUST00000203744]

AlphaFold

Q5NC45

Predicted Effect

probably damaging
Transcript: ENSMUST00000180165
AA Change: M227K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136008
Gene: ENSMUSG00000050813
AA Change: M227K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	40	289	6.8e-33	PFAM
Pfam:7tm_4	138	282	4.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203744

Meta Mutation Damage Score

0.6136

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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
1110002E22Rik	C	T	3: 137,774,701 (GRCm39)	P1297S	probably benign	Het
4930486L24Rik	C	T	13: 61,001,461 (GRCm39)	V89M	probably benign	Het
Abhd16a	T	C	17: 35,317,786 (GRCm39)		probably null	Het
Abtb1	A	C	6: 88,815,433 (GRCm39)	C264G	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arid1a	C	T	4: 133,421,163 (GRCm39)	G881R	unknown	Het
Asb8	A	G	15: 98,034,123 (GRCm39)	V144A	possibly damaging	Het
Atm	A	C	9: 53,435,714 (GRCm39)	C199G	probably damaging	Het
Atxn1	C	A	13: 45,720,288 (GRCm39)	V536L	probably benign	Het
Baz1a	C	T	12: 54,955,868 (GRCm39)	V1074M	possibly damaging	Het
BC034090	T	A	1: 155,100,659 (GRCm39)	D535V	probably damaging	Het
Casp8ap2	C	A	4: 32,639,380 (GRCm39)	H145N	probably damaging	Het
Ccdc24	T	A	4: 117,729,645 (GRCm39)	K25*	probably null	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cdh20	A	T	1: 110,026,036 (GRCm39)	Y424F	probably benign	Het
Clasp1	T	C	1: 118,438,028 (GRCm39)	S612P	probably damaging	Het
Cxcl14	T	C	13: 56,443,646 (GRCm39)	M55V	possibly damaging	Het
Dnah11	T	C	12: 117,892,191 (GRCm39)	T3661A	probably benign	Het
Dnah14	T	A	1: 181,449,398 (GRCm39)	D574E	probably benign	Het
Dnah6	C	T	6: 73,091,680 (GRCm39)	V2204M	possibly damaging	Het
Ercc4	A	T	16: 12,943,125 (GRCm39)	H178L	probably benign	Het
Far2	T	C	6: 148,076,581 (GRCm39)	F475L	probably benign	Het
Ggt7	A	G	2: 155,359,959 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,718,364 (GRCm39)	T81S	possibly damaging	Het
Gprc6a	A	G	10: 51,491,173 (GRCm39)	S788P	probably damaging	Het
Hmgxb3	C	A	18: 61,270,672 (GRCm39)	G884V	possibly damaging	Het
Homer1	T	A	13: 93,502,945 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,861,897 (GRCm39)	S483P	probably damaging	Het
Kansl1l	C	G	1: 66,812,643 (GRCm39)	E457Q	probably damaging	Het
Krtap4-9	G	A	11: 99,676,481 (GRCm39)		probably benign	Het
Lepr	C	A	4: 101,649,220 (GRCm39)	P874T	probably damaging	Het
Mad2l2	T	A	4: 148,228,067 (GRCm39)	F100L	probably damaging	Het
Mavs	A	T	2: 131,087,518 (GRCm39)	R339*	probably null	Het
Mettl1	G	A	10: 126,877,843 (GRCm39)		probably benign	Het
Mfsd8	A	G	3: 40,774,031 (GRCm39)	V493A	possibly damaging	Het
Mtmr9	C	T	14: 63,779,901 (GRCm39)	V63M	possibly damaging	Het
Mto1	T	C	9: 78,368,131 (GRCm39)	I425T	possibly damaging	Het
Or5g29	A	G	2: 85,420,950 (GRCm39)	Y22C	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pclo	C	T	5: 14,727,937 (GRCm39)		probably benign	Het
Phf2	T	C	13: 48,969,533 (GRCm39)	D608G	unknown	Het
Plch2	T	C	4: 155,068,829 (GRCm39)	T1266A	probably benign	Het
Prdm12	A	G	2: 31,533,889 (GRCm39)	N169D	probably damaging	Het
Rimbp3	A	G	16: 17,030,134 (GRCm39)	Y1186C	probably damaging	Het
Serpinb3d	T	C	1: 107,006,989 (GRCm39)	M240V	probably damaging	Het
Slc25a38	C	T	9: 119,945,658 (GRCm39)	R74C	probably damaging	Het
Slc25a39	A	T	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc26a8	T	C	17: 28,867,129 (GRCm39)	N564S	probably damaging	Het
Spag4	G	A	2: 155,907,696 (GRCm39)		probably benign	Het
Stx1b	A	G	7: 127,407,035 (GRCm39)	M74T	possibly damaging	Het
Tbc1d1	A	G	5: 64,507,242 (GRCm39)	D1153G	probably benign	Het
Tert	T	C	13: 73,776,700 (GRCm39)	F484L	probably benign	Het
Tet1	A	G	10: 62,649,494 (GRCm39)	V72A	probably benign	Het
Tnfrsf13c	T	C	15: 82,107,355 (GRCm39)	T147A	probably damaging	Het
Trpa1	A	T	1: 14,959,710 (GRCm39)	Y659N	probably damaging	Het
Trpm2	A	G	10: 77,761,516 (GRCm39)	F1045L	probably benign	Het
Ttc13	T	C	8: 125,405,772 (GRCm39)	H529R	probably benign	Het
Ttn	T	C	2: 76,545,614 (GRCm39)	T32570A	probably damaging	Het
Uba7	A	G	9: 107,860,359 (GRCm39)	T892A	possibly damaging	Het
Uty	A	T	Y: 1,174,836 (GRCm39)	M195K	probably benign	Het
Zfp109	A	G	7: 23,928,978 (GRCm39)	S152P	possibly damaging	Het
Zfp532	T	C	18: 65,777,281 (GRCm39)	V846A	probably damaging	Het
Zfp658	A	T	7: 43,223,951 (GRCm39)	H742L	possibly damaging	Het
Zfp831	C	A	2: 174,547,299 (GRCm39)	P1494Q	probably damaging	Het

Other mutations in Or2av9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02510:Or2av9	APN	11	58,381,365 (GRCm39)	missense	probably damaging	1.00
R1671:Or2av9	UTSW	11	58,381,435 (GRCm39)	missense	possibly damaging	0.63
R2193:Or2av9	UTSW	11	58,380,732 (GRCm39)	missense	probably damaging	0.97
R2393:Or2av9	UTSW	11	58,381,546 (GRCm39)	missense	probably benign	0.20
R4713:Or2av9	UTSW	11	58,380,913 (GRCm39)	missense	probably benign	0.01
R5328:Or2av9	UTSW	11	58,381,255 (GRCm39)	missense	possibly damaging	0.91
R5636:Or2av9	UTSW	11	58,380,877 (GRCm39)	missense	probably damaging	1.00
R7011:Or2av9	UTSW	11	58,380,970 (GRCm39)	missense	possibly damaging	0.69
R7172:Or2av9	UTSW	11	58,380,571 (GRCm39)	missense	unknown
R7427:Or2av9	UTSW	11	58,380,606 (GRCm39)	missense	probably benign
R8832:Or2av9	UTSW	11	58,381,063 (GRCm39)	missense	possibly damaging	0.94
R9159:Or2av9	UTSW	11	58,381,350 (GRCm39)	missense	probably damaging	1.00
R9289:Or2av9	UTSW	11	58,380,745 (GRCm39)	missense	probably benign	0.22
Z1186:Or2av9	UTSW	11	58,381,314 (GRCm39)	missense	probably benign
Z1186:Or2av9	UTSW	11	58,381,123 (GRCm39)	missense	probably benign	0.01
Z1186:Or2av9	UTSW	11	58,380,574 (GRCm39)	nonsense	probably null
Z1187:Or2av9	UTSW	11	58,381,314 (GRCm39)	missense	probably benign
Z1187:Or2av9	UTSW	11	58,381,123 (GRCm39)	missense	probably benign	0.01
Z1187:Or2av9	UTSW	11	58,380,574 (GRCm39)	nonsense	probably null
Z1188:Or2av9	UTSW	11	58,381,314 (GRCm39)	missense	probably benign
Z1188:Or2av9	UTSW	11	58,381,123 (GRCm39)	missense	probably benign	0.01
Z1188:Or2av9	UTSW	11	58,380,574 (GRCm39)	nonsense	probably null
Z1189:Or2av9	UTSW	11	58,381,314 (GRCm39)	missense	probably benign
Z1189:Or2av9	UTSW	11	58,381,123 (GRCm39)	missense	probably benign	0.01
Z1189:Or2av9	UTSW	11	58,380,574 (GRCm39)	nonsense	probably null
Z1190:Or2av9	UTSW	11	58,381,314 (GRCm39)	missense	probably benign
Z1190:Or2av9	UTSW	11	58,381,123 (GRCm39)	missense	probably benign	0.01
Z1190:Or2av9	UTSW	11	58,380,574 (GRCm39)	nonsense	probably null
Z1191:Or2av9	UTSW	11	58,381,314 (GRCm39)	missense	probably benign
Z1191:Or2av9	UTSW	11	58,381,123 (GRCm39)	missense	probably benign	0.01
Z1191:Or2av9	UTSW	11	58,380,574 (GRCm39)	nonsense	probably null
Z1192:Or2av9	UTSW	11	58,381,314 (GRCm39)	missense	probably benign
Z1192:Or2av9	UTSW	11	58,381,123 (GRCm39)	missense	probably benign	0.01
Z1192:Or2av9	UTSW	11	58,380,574 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTATCACGGCTGCAGCATC -3'
(R):5'- AGGGAGATCAACCATTACTTCTG -3'

Sequencing Primer
(F):5'- CCTTGTTTCTCAGGCTGTAGATAAG -3'
(R):5'- AACCATTACTTCTGTGAGATGCC -3'

Posted On

2017-08-16