Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Or2av9'

440383

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

043287-MU

Accession Numbers

Essential gene?

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

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58380545-58383325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58380877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 235 (K235E)

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: K235E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136008
Gene: ENSMUSG00000050813
AA Change: K235E

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,922,382 (GRCm39)	Q448*	probably null	Het
Abca5	A	G	11: 110,192,362 (GRCm39)	Y717H	probably benign	Het
Abcg2	T	A	6: 58,649,041 (GRCm39)	D295E	probably damaging	Het
Accsl	C	T	2: 93,699,370 (GRCm39)	E7K	probably benign	Het
Acvr2b	A	G	9: 119,257,375 (GRCm39)	Y152C	probably damaging	Het
Akap13	A	G	7: 75,354,120 (GRCm39)	E1747G	probably damaging	Het
Arpp19	C	T	9: 74,945,215 (GRCm39)		probably benign	Het
Atp10d	A	G	5: 72,445,562 (GRCm39)	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,743,582 (GRCm39)		probably benign	Het
Bms1	C	A	6: 118,365,786 (GRCm39)	M1133I	probably benign	Het
Bysl	A	C	17: 47,913,648 (GRCm39)	D259E	probably benign	Het
Capn1	A	T	19: 6,064,472 (GRCm39)	V9E	probably benign	Het
Cdkl2	T	C	5: 92,181,601 (GRCm39)	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,426,750 (GRCm39)	Q184*	probably null	Het
Cypt12	C	T	3: 18,002,749 (GRCm39)	R41C	probably benign	Het
Dnaaf11	A	T	15: 66,372,665 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,173,307 (GRCm39)	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,644,089 (GRCm39)	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,787,031 (GRCm39)	C148R	probably damaging	Het
Gpd1	A	T	15: 99,619,939 (GRCm39)	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,024,738 (GRCm39)	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,316,932 (GRCm39)	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,108,584 (GRCm39)	T35A	probably benign	Het
Lgr6	T	C	1: 134,914,816 (GRCm39)	D644G	probably benign	Het
Mdn1	C	T	4: 32,695,480 (GRCm39)	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,778,439 (GRCm39)	V221A	probably damaging	Het
Mrgprb4	A	G	7: 47,848,218 (GRCm39)	C237R	probably benign	Het
Myo1b	A	G	1: 51,836,687 (GRCm39)	M264T	probably damaging	Het
Naxd	A	G	8: 11,552,676 (GRCm39)	N32S	probably benign	Het
Nlrp12	A	T	7: 3,273,926 (GRCm39)	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nuggc	A	T	14: 65,885,637 (GRCm39)	K755*	probably null	Het
Or9i2	C	T	19: 13,815,701 (GRCm39)	V279M	possibly damaging	Het
Pik3ca	G	A	3: 32,515,709 (GRCm39)	R794Q	probably damaging	Het
Pnp2	A	G	14: 51,193,649 (GRCm39)		probably null	Het
Ric3	G	A	7: 108,638,027 (GRCm39)	T242I	probably damaging	Het
Rnf213	A	C	11: 119,327,731 (GRCm39)	Q1906P	probably damaging	Het
Rnf213	G	A	11: 119,327,455 (GRCm39)	R1814K	probably benign	Het
Rufy2	T	A	10: 62,833,733 (GRCm39)	I265N	probably damaging	Het
Scap	G	T	9: 110,209,662 (GRCm39)	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,202,744 (GRCm39)	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 55,036,352 (GRCm39)	D907G	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,530,860 (GRCm39)	L749F	possibly damaging	Het
Smtn	T	G	11: 3,467,829 (GRCm39)		probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sptbn5	G	A	2: 119,887,885 (GRCm39)		probably benign	Het
Stam	G	T	2: 14,122,238 (GRCm39)	M112I	probably damaging	Het
Tex35	C	T	1: 156,927,794 (GRCm39)	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394 (GRCm39)	E157G	probably damaging	Het
Traf6	G	A	2: 101,527,254 (GRCm39)	V335M	probably benign	Het
Ubr5	T	A	15: 37,984,240 (GRCm39)	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,603,637 (GRCm39)	H605R	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
R6092:Or2av9	UTSW	11	58,380,900 (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'- TGAGATGCCCGCTATTCTGAG -3'

Sequencing Primer
(F):5'- TCCTTGTTTCTCAGGCTGTAGATAAG -3'
(R):5'- AGATGCCCGCTATTCTGAGAATGTC -3'

Posted On

2016-11-08