Mutagenetix > Incidental Mutation

Incidental Mutation 'R9159:Or2av9'

695597

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

Accession Numbers

Essential gene?

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

Stock #

R9159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58380545-58383325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58381350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 77 (V77A)

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: V77A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136008
Gene: ENSMUSG00000050813
AA Change: V77A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (72/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,394,238 (GRCm39)	M179K	probably benign	Het
A030003K21Rik	A	G	1: 82,920,787 (GRCm39)	V86A	unknown	Het
AC133488.1	A	T	16: 18,440,075 (GRCm39)	V363E	probably benign	Het
Adamts16	A	G	13: 70,901,408 (GRCm39)	S890P	probably benign	Het
Adgrf4	A	G	17: 42,973,293 (GRCm39)	V685A	probably benign	Het
Aff1	T	A	5: 103,990,131 (GRCm39)	M867K	possibly damaging	Het
Apba3	T	A	10: 81,106,867 (GRCm39)	S225T		Het
Aplp1	T	A	7: 30,141,775 (GRCm39)	T228S	probably benign	Het
Arhgap18	A	G	10: 26,730,886 (GRCm39)	D188G	probably benign	Het
BC024063	T	A	10: 81,944,906 (GRCm39)	S175R	possibly damaging	Het
Bloc1s6	T	G	2: 122,580,548 (GRCm39)	S2R	probably damaging	Het
Cd209b	A	G	8: 3,974,245 (GRCm39)	I119T	possibly damaging	Het
Cdk8	T	C	5: 146,168,549 (GRCm39)	V16A	probably damaging	Het
Cep295	A	G	9: 15,252,904 (GRCm39)	M308T	probably benign	Het
Cfap53	T	A	18: 74,416,272 (GRCm39)	Y2N	probably damaging	Het
Col28a1	T	A	6: 8,014,993 (GRCm39)	D804V	probably damaging	Het
Csta3	G	A	16: 36,038,069 (GRCm39)	V69I	probably benign	Het
Cyp2c40	A	T	19: 39,762,317 (GRCm39)	D443E	probably damaging	Het
Cyp2d9	A	G	15: 82,338,572 (GRCm39)	D202G	possibly damaging	Het
Dchs1	G	A	7: 105,415,126 (GRCm39)	A686V	probably benign	Het
Egf	A	T	3: 129,472,026 (GRCm39)	N1199K	probably benign	Het
Eva1a	A	G	6: 82,068,855 (GRCm39)	R61G	possibly damaging	Het
Exoc6	T	A	19: 37,597,478 (GRCm39)	D626E	probably benign	Het
Exosc10	T	C	4: 148,663,916 (GRCm39)		probably null	Het
Firrm	A	G	1: 163,814,514 (GRCm39)	I143T	probably damaging	Het
Gm12888	T	C	4: 121,176,600 (GRCm39)	Q67R	probably null	Het
Gm16485	A	G	9: 8,972,319 (GRCm39)	S62G	unknown	Het
Gng4	T	C	13: 13,999,896 (GRCm39)	I55T	probably damaging	Het
Gpihbp1	A	G	15: 75,469,830 (GRCm39)	S182G	possibly damaging	Het
Hax1	T	C	3: 89,903,127 (GRCm39)	R251G	probably damaging	Het
Igf2bp2	G	A	16: 21,900,502 (GRCm39)	T213I	probably damaging	Het
Il23a	T	A	10: 128,133,427 (GRCm39)	K66*	probably null	Het
Itga2	A	T	13: 115,014,298 (GRCm39)	L210*	probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Matr3	T	A	18: 35,712,355 (GRCm39)	M389K	possibly damaging	Het
Mettl15	T	C	2: 108,923,444 (GRCm39)	D326G	probably damaging	Het
Mta1	T	A	12: 113,100,025 (GRCm39)	V645E	probably damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Naa15	T	A	3: 51,358,802 (GRCm39)	N362K	probably benign	Het
Necab2	T	C	8: 120,189,303 (GRCm39)	Y158H	probably damaging	Het
Nphp3	T	A	9: 103,897,980 (GRCm39)	L523Q	probably damaging	Het
Nphs1	T	G	7: 30,165,026 (GRCm39)	F540V	possibly damaging	Het
Or2k2	A	G	4: 58,785,320 (GRCm39)	I134T	probably benign	Het
Or5p55	A	T	7: 107,567,524 (GRCm39)	R307*	probably null	Het
Ppa1	A	T	10: 61,496,784 (GRCm39)	I91F	probably damaging	Het
Prdm6	C	A	18: 53,598,019 (GRCm39)	A127D	unknown	Het
Prdm8	T	C	5: 98,334,175 (GRCm39)	F581L	probably damaging	Het
Rbbp6	T	C	7: 122,589,428 (GRCm39)	I372T	probably damaging	Het
Rnf144b	A	G	13: 47,396,348 (GRCm39)	I228M	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd2	T	C	9: 110,374,385 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,613,824 (GRCm39)	H441R	possibly damaging	Het
Shbg	G	A	11: 69,506,430 (GRCm39)	L327F	probably benign	Het
Sik3	C	T	9: 46,123,539 (GRCm39)	Q1113*	probably null	Het
Smad2	T	A	18: 76,395,573 (GRCm39)	I4N	possibly damaging	Het
Spata31h1	G	A	10: 82,118,524 (GRCm39)	R4829*	probably null	Het
Sult2b1	T	A	7: 45,391,534 (GRCm39)	E84V	probably damaging	Het
Tbc1d8	A	G	1: 39,444,474 (GRCm39)	Y162H		Het
Tedc2	A	G	17: 24,436,705 (GRCm39)	L308P	probably damaging	Het
Tmc5	T	C	7: 118,233,264 (GRCm39)	V26A	probably benign	Het
Tmem120b	T	A	5: 123,242,566 (GRCm39)	N181K	possibly damaging	Het
Tmem229b	T	G	12: 79,011,448 (GRCm39)	N161T	possibly damaging	Het
Tmem43	A	C	6: 91,459,291 (GRCm39)	D254A	probably benign	Het
Trpv6	T	C	6: 41,603,074 (GRCm39)	D266G	probably benign	Het
Tspan9	A	G	6: 127,943,717 (GRCm39)	I102T	possibly damaging	Het
Ung	A	G	5: 114,270,166 (GRCm39)		probably benign	Het
Upp2	C	T	2: 58,667,996 (GRCm39)	H230Y	probably damaging	Het
Vmn1r184	G	A	7: 25,966,545 (GRCm39)	S97N	possibly damaging	Het
Vmn2r73	A	T	7: 85,521,931 (GRCm39)	V136E	possibly damaging	Het
Wdr20rt	T	C	12: 65,272,918 (GRCm39)	V127A	probably damaging	Het
Yme1l1	T	A	2: 23,063,058 (GRCm39)	F210I	probably damaging	Het
Yrdc	T	C	4: 124,747,811 (GRCm39)		probably null	Het
Zfhx4	G	T	3: 5,464,312 (GRCm39)	R1515L	probably damaging	Het
Zfhx4	C	T	3: 5,466,217 (GRCm39)	P2150L	probably damaging	Het
Zfp267	C	A	3: 36,219,902 (GRCm39)	H642N	possibly damaging	Het
Zfp988	C	T	4: 147,416,450 (GRCm39)	P295S	possibly 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
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
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'- ACCTTGGGGCTCATGAGAATG -3'
(R):5'- AAAACTACATCCAGTTTCATCCTGCTG -3'

Sequencing Primer
(F):5'- GGCTCATGAGAATGGTATACCTC -3'
(R):5'- AGTTTCATCCTGCTGGGGCTC -3'

Posted On

2022-01-20