Mutagenetix > Incidental Mutation

Incidental Mutation 'R7172:Or2av9'

558361

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

045264-MU

Accession Numbers

Essential gene?

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

Stock #

R7172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58380545-58383325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58380571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 337 (I337F)

Ref Sequence

ENSEMBL: ENSMUSP00000136008 (fasta)

Gene Model

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

AlphaFold

Q5NC45

Predicted Effect

unknown
Transcript: ENSMUST00000180165
AA Change: I337F

SMART Domains

Protein: ENSMUSP00000136008
Gene: ENSMUSG00000050813
AA Change: I337F

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,480,238 (GRCm39)	Y33F	probably damaging	Het
Abca4	C	T	3: 121,897,189 (GRCm39)	Q623*	probably null	Het
Abcb1a	A	T	5: 8,752,399 (GRCm39)	I457F	probably benign	Het
Abcb9	G	A	5: 124,200,869 (GRCm39)	Q716*	probably null	Het
Abhd15	T	C	11: 77,406,122 (GRCm39)	V33A	probably benign	Het
Abl2	A	G	1: 156,450,157 (GRCm39)	D108G	probably damaging	Het
Adamts3	G	A	5: 90,030,860 (GRCm39)		probably benign	Het
Atmin	G	T	8: 117,683,281 (GRCm39)	V314L	probably damaging	Het
Axl	G	T	7: 25,486,399 (GRCm39)	Q102K	probably benign	Het
Cdhr5	A	G	7: 140,851,841 (GRCm39)	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,016,790 (GRCm39)	A126D	probably damaging	Het
Col25a1	A	T	3: 130,363,981 (GRCm39)	K537*	probably null	Het
Cxcl2	A	G	5: 91,051,879 (GRCm39)	T26A	probably benign	Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dnah17	T	A	11: 117,931,957 (GRCm39)	K3672*	probably null	Het
Fadd	G	T	7: 144,135,908 (GRCm39)	H73Q	probably benign	Het
Fancm	A	G	12: 65,152,828 (GRCm39)	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,218,603 (GRCm39)	S789P	probably damaging	Het
Glis2	G	A	16: 4,431,339 (GRCm39)	V289I	probably benign	Het
Gm17728	A	C	17: 9,641,220 (GRCm39)	D110A	probably damaging	Het
Gm9602	T	A	14: 15,933,429 (GRCm39)	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,917,049 (GRCm39)	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,787,385 (GRCm39)		probably null	Het
Gps2	C	T	11: 69,807,262 (GRCm39)	T306I	probably benign	Het
Hmcn1	A	G	1: 150,629,450 (GRCm39)	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,181,276 (GRCm39)	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,550,894 (GRCm39)	A145S	probably benign	Het
Impdh2	G	T	9: 108,437,809 (GRCm39)	C26F	probably benign	Het
Kcnh6	T	C	11: 105,911,100 (GRCm39)	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,576,691 (GRCm39)	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,188,228 (GRCm39)	M1K	probably null	Het
Klk1b11	A	T	7: 43,648,671 (GRCm39)	D194V	possibly damaging	Het
Lama1	A	G	17: 68,111,540 (GRCm39)	I2264V		Het
Lmntd2	A	G	7: 140,793,554 (GRCm39)	S111P	unknown	Het
Megf8	T	C	7: 25,043,092 (GRCm39)	L1338P	probably damaging	Het
Mipol1	G	A	12: 57,372,321 (GRCm39)	E127K	possibly damaging	Het
Mmp25	A	T	17: 23,863,762 (GRCm39)	C23S	probably benign	Het
Mup8	A	T	4: 60,222,425 (GRCm39)	C15*	probably null	Het
Myh2	A	T	11: 67,079,527 (GRCm39)	T995S	probably benign	Het
Myo1d	C	T	11: 80,483,621 (GRCm39)	V863I	probably benign	Het
N4bp1	A	G	8: 87,587,052 (GRCm39)		probably null	Het
Nat10	G	T	2: 103,563,314 (GRCm39)	P562T	probably damaging	Het
Nedd9	C	G	13: 41,470,280 (GRCm39)	R291P	probably benign	Het
Nlrc3	G	T	16: 3,781,617 (GRCm39)	H613Q	probably benign	Het
Ntn1	A	T	11: 68,276,493 (GRCm39)	C152S	probably damaging	Het
Pam	A	T	1: 97,762,203 (GRCm39)	D793E	probably benign	Het
Patz1	T	G	11: 3,258,032 (GRCm39)	V631G	probably benign	Het
Pcdh15	G	A	10: 74,338,597 (GRCm39)	V1068M	probably damaging	Het
Pramel17	A	G	4: 101,694,193 (GRCm39)	V230A	probably benign	Het
Prmt5	A	G	14: 54,752,343 (GRCm39)	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,339,943 (GRCm39)	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,561,156 (GRCm39)	S220R	probably benign	Het
Rdh7	T	G	10: 127,724,218 (GRCm39)	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,701,966 (GRCm39)	W163G	possibly damaging	Het
Ryr3	T	A	2: 112,492,002 (GRCm39)	N3783I	probably damaging	Het
Shld2	G	A	14: 33,959,525 (GRCm39)	T819I	probably damaging	Het
Slit1	A	G	19: 41,623,105 (GRCm39)	L644P	probably damaging	Het
Steap2	A	G	5: 5,732,896 (GRCm39)	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,981,390 (GRCm39)	M686V	probably damaging	Het
Tdrp	G	A	8: 14,024,579 (GRCm39)	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946 (GRCm39)	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,914,994 (GRCm39)	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,155,618 (GRCm39)	V757E	probably benign	Het
Trim10	A	G	17: 37,180,955 (GRCm39)	E62G	possibly damaging	Het
Ushbp1	G	T	8: 71,841,410 (GRCm39)	A473E	possibly damaging	Het
Vmn1r50	A	C	6: 90,084,386 (GRCm39)	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,838,294 (GRCm39)	N68D	probably damaging	Het
Wdr83	A	G	8: 85,806,453 (GRCm39)	V115A	probably damaging	Het
Zdhhc17	A	G	10: 110,845,809 (GRCm39)	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,818,527 (GRCm39)	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,058,572 (GRCm39)	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,391,753 (GRCm39)	R133S	probably benign	Het
Zscan20	G	T	4: 128,479,469 (GRCm39)	C1007*	probably null	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
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'- AATGAATTAGAAACCCTTCGCC -3'
(R):5'- TTCATCTACATGACGCCCAC -3'

Sequencing Primer
(F):5'- GCCTTTGCACAGATGTCATCG -3'
(R):5'- CCAGGTAGGTGCTGTGC -3'

Posted On

2019-06-26