Mutagenetix > Incidental Mutation

Incidental Mutation 'R0519:Or5m9'

48367

Institutional Source

Beutler Lab

Gene Symbol

Or5m9

Ensembl Gene

ENSMUSG00000102091

Gene Name

olfactory receptor family 5 subfamily M member 9

Synonyms

Olfr1533-ps1, MOR245-14P, MOR227-8P, Olfr1034, GA_x6K02T2Q125-47521463-47522395, MOR227-8P

MMRRC Submission

038712-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R0519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85876788-85877810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85877411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 195 (Y195F)

Ref Sequence

ENSEMBL: ENSMUSP00000150150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079298] [ENSMUST00000213496] [ENSMUST00000213865] [ENSMUST00000214546] [ENSMUST00000215682] [ENSMUST00000218397]

AlphaFold

A0A1L1ST14

Predicted Effect

probably benign
Transcript: ENSMUST00000079298
AA Change: Y195F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078279
Gene: ENSMUSG00000042796
AA Change: Y195F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.3e-50	PFAM
Pfam:7tm_1	39	288	9.9e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213364

Predicted Effect

probably benign
Transcript: ENSMUST00000213496
AA Change: Y195F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213865

Predicted Effect

probably benign
Transcript: ENSMUST00000214546

Predicted Effect

probably benign
Transcript: ENSMUST00000215682

Predicted Effect

probably benign
Transcript: ENSMUST00000218397

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.6%
20x: 93.2%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,696,067 (GRCm39)	R168G	probably benign	Het
2810004N23Rik	C	T	8: 125,566,668 (GRCm39)	G251R	possibly damaging	Het
3425401B19Rik	A	G	14: 32,384,919 (GRCm39)	S349P	possibly damaging	Het
Ackr4	A	G	9: 103,976,650 (GRCm39)	V99A	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Asxl3	A	G	18: 22,656,577 (GRCm39)	Q1529R	possibly damaging	Het
Atg12	T	C	18: 46,874,477 (GRCm39)	E46G	probably benign	Het
Cdcp2	A	G	4: 106,964,389 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,318,089 (GRCm39)		probably benign	Het
Clip2	A	G	5: 134,545,005 (GRCm39)	V383A	probably benign	Het
Cntln	C	T	4: 84,923,290 (GRCm39)		probably benign	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Csmd2	A	C	4: 128,380,798 (GRCm39)	Y2118S	possibly damaging	Het
Dip2c	T	A	13: 9,613,244 (GRCm39)	V415E	probably damaging	Het
Dpy19l2	C	T	9: 24,469,391 (GRCm39)	R755Q	probably benign	Het
Dsn1	A	T	2: 156,840,633 (GRCm39)		probably benign	Het
Dtd2	T	C	12: 52,051,742 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 6,027,399 (GRCm39)	T602A	probably benign	Het
Ercc6	A	C	14: 32,248,799 (GRCm39)	D450A	probably damaging	Het
Fgf12	A	T	16: 28,008,380 (GRCm39)	V104D	probably benign	Het
Frem1	A	T	4: 82,888,870 (GRCm39)		probably null	Het
Gcgr	G	T	11: 120,426,982 (GRCm39)	W88L	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Hapln1	A	G	13: 89,732,835 (GRCm39)		probably benign	Het
Hmgn3	T	C	9: 82,994,301 (GRCm39)	E40G	probably damaging	Het
Hsdl1	G	A	8: 120,292,450 (GRCm39)	A255V	probably damaging	Het
Hyls1	T	C	9: 35,472,499 (GRCm39)	K306E	probably damaging	Het
Jcad	C	T	18: 4,649,122 (GRCm39)		probably benign	Het
Kif14	C	A	1: 136,396,885 (GRCm39)	A397E	probably damaging	Het
Lcmt2	A	T	2: 120,969,825 (GRCm39)		probably null	Het
Lifr	T	C	15: 7,207,061 (GRCm39)	L524P	probably damaging	Het
Ly6g6f	T	C	17: 35,301,828 (GRCm39)	K209E	possibly damaging	Het
Macf1	G	A	4: 123,365,113 (GRCm39)	T1651I	probably benign	Het
Mapk4	T	C	18: 74,103,392 (GRCm39)	D39G	probably damaging	Het
Mbl1	A	G	14: 40,880,522 (GRCm39)	M137V	probably damaging	Het
Mcm10	G	A	2: 5,013,356 (GRCm39)	S92L	probably benign	Het
Mug1	A	G	6: 121,828,383 (GRCm39)	K265R	possibly damaging	Het
Mxra7	A	G	11: 116,701,612 (GRCm39)		probably null	Het
Neu3	G	A	7: 99,472,524 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,460,648 (GRCm39)	T2395A	probably benign	Het
Or1j1	T	A	2: 36,702,627 (GRCm39)	H159L	probably damaging	Het
Or6s1	T	A	14: 51,308,614 (GRCm39)	I79F	probably damaging	Het
Or7g34	A	T	9: 19,478,245 (GRCm39)	I145N	probably benign	Het
Osgepl1	T	C	1: 53,360,255 (GRCm39)	V327A	probably damaging	Het
Pcdhb21	T	C	18: 37,649,085 (GRCm39)	V738A	possibly damaging	Het
Plekha8	A	T	6: 54,599,092 (GRCm39)		probably benign	Het
Ptprq	A	C	10: 107,374,781 (GRCm39)		probably benign	Het
Pus10	T	A	11: 23,661,201 (GRCm39)	F263Y	probably benign	Het
Rad54b	A	T	4: 11,599,809 (GRCm39)	I338F	probably damaging	Het
Rad54l2	A	G	9: 106,585,498 (GRCm39)	F756L	probably damaging	Het
Scn11a	A	G	9: 119,619,185 (GRCm39)	L719P	probably damaging	Het
Slc2a2	G	A	3: 28,772,965 (GRCm39)	V253I	possibly damaging	Het
Slc39a4	A	T	15: 76,499,338 (GRCm39)	N192K	probably benign	Het
Soat1	T	A	1: 156,268,816 (GRCm39)	I245F	probably damaging	Het
Sorcs2	G	A	5: 36,188,534 (GRCm39)	A858V	probably benign	Het
Tcim	T	C	8: 24,928,651 (GRCm39)	T88A	possibly damaging	Het
Tecta	G	A	9: 42,259,188 (GRCm39)		probably benign	Het
Tgm5	C	A	2: 120,879,376 (GRCm39)	L553F	probably damaging	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmem214	A	C	5: 31,027,012 (GRCm39)	M1L	probably null	Het
Togaram1	T	C	12: 65,012,776 (GRCm39)		probably benign	Het
Topaz1	C	A	9: 122,578,544 (GRCm39)	L485I	possibly damaging	Het
Ttn	T	C	2: 76,548,626 (GRCm39)		probably benign	Het
Ube2o	A	G	11: 116,437,285 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,734,465 (GRCm39)	D246E	probably benign	Het
Vcpkmt	T	C	12: 69,629,102 (GRCm39)	D132G	probably benign	Het
Vmn2r111	T	A	17: 22,792,102 (GRCm39)	Q51H	probably benign	Het
Vmn2r95	C	T	17: 18,659,765 (GRCm39)	P170S	probably damaging	Het
Zbtb38	A	G	9: 96,567,826 (GRCm39)	I1086T	probably damaging	Het
Zfp444	G	A	7: 6,191,172 (GRCm39)	A118T	probably benign	Het
Zp2	A	G	7: 119,737,372 (GRCm39)	I272T	probably damaging	Het

Other mutations in Or5m9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Or5m9	APN	2	85,876,996 (GRCm39)	missense	possibly damaging	0.55
IGL01066:Or5m9	APN	2	85,877,602 (GRCm39)	missense	probably damaging	0.97
IGL01326:Or5m9	APN	2	85,877,627 (GRCm39)	missense	probably damaging	0.96
IGL02862:Or5m9	APN	2	85,877,648 (GRCm39)	missense	probably benign	0.07
ANU74:Or5m9	UTSW	2	85,877,655 (GRCm39)	nonsense	probably null
PIT4651001:Or5m9	UTSW	2	85,876,862 (GRCm39)	missense	probably damaging	1.00
R0415:Or5m9	UTSW	2	85,877,399 (GRCm39)	missense	probably benign	0.00
R0492:Or5m9	UTSW	2	85,877,278 (GRCm39)	missense	possibly damaging	0.81
R0492:Or5m9	UTSW	2	85,876,931 (GRCm39)	missense	probably benign	0.00
R0517:Or5m9	UTSW	2	85,877,548 (GRCm39)	missense	probably damaging	0.99
R0619:Or5m9	UTSW	2	85,877,655 (GRCm39)	nonsense	probably null
R1015:Or5m9	UTSW	2	85,877,426 (GRCm39)	missense	possibly damaging	0.49
R1592:Or5m9	UTSW	2	85,877,333 (GRCm39)	missense	probably benign	0.00
R1598:Or5m9	UTSW	2	85,877,657 (GRCm39)	missense	probably damaging	0.99
R2062:Or5m9	UTSW	2	85,877,299 (GRCm39)	missense	probably damaging	1.00
R4690:Or5m9	UTSW	2	85,877,242 (GRCm39)	missense	probably damaging	1.00
R5757:Or5m9	UTSW	2	85,876,910 (GRCm39)	missense	possibly damaging	0.93
R5991:Or5m9	UTSW	2	85,877,254 (GRCm39)	missense	probably benign	0.05
R6037:Or5m9	UTSW	2	85,876,928 (GRCm39)	missense	probably benign	0.00
R6037:Or5m9	UTSW	2	85,876,928 (GRCm39)	missense	probably benign	0.00
R6760:Or5m9	UTSW	2	85,877,358 (GRCm39)	nonsense	probably null
R6852:Or5m9	UTSW	2	85,876,948 (GRCm39)	missense	probably benign	0.28
R9686:Or5m9	UTSW	2	85,877,335 (GRCm39)	missense	probably benign
S24628:Or5m9	UTSW	2	85,877,399 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGTCCAGGGTTGTCTGTATCCGC -3'
(R):5'- GGGGTTCAGCATAGGAATCACACTG -3'

Sequencing Primer
(F):5'- TGTATCCGCCTCATTTCTGTG -3'
(R):5'- CTCAGATACATGAATATGAGGGTTCC -3'

Posted On

2013-06-12