Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Or5b109'

408360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5b109

Ensembl Gene

ENSMUSG00000096365

Gene Name

olfactory receptor family 5 subfamily B member 109

Synonyms

Olfr1463, GA_x6K02T2RE5P-3560863-3561795, MOR202-29P

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

13211616-13212548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13212418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 268 (S268L)

Ref Sequence

ENSEMBL: ENSMUSP00000146566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064102] [ENSMUST00000207246]

AlphaFold

Q7TQR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000064102
AA Change: S268L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070872
Gene: ENSMUSG00000096365
AA Change: S268L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	310	1e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	306	3.2e-6	PFAM
Pfam:7tm_1	42	291	1.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207246
AA Change: S268L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	probably benign	Het

Other mutations in Or5b109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Or5b109	APN	19	13,212,103 (GRCm39)	missense	probably benign	0.01
IGL02596:Or5b109	APN	19	13,211,763 (GRCm39)	missense	probably damaging	1.00
IGL03232:Or5b109	APN	19	13,212,341 (GRCm39)	nonsense	probably null
IGL03380:Or5b109	APN	19	13,212,365 (GRCm39)	missense	probably benign	0.00
PIT4382001:Or5b109	UTSW	19	13,212,259 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Or5b109	UTSW	19	13,212,216 (GRCm39)	missense	probably benign	0.00
R0652:Or5b109	UTSW	19	13,211,899 (GRCm39)	missense	possibly damaging	0.80
R0658:Or5b109	UTSW	19	13,212,424 (GRCm39)	missense	possibly damaging	0.94
R1181:Or5b109	UTSW	19	13,212,195 (GRCm39)	missense	probably benign	0.07
R1239:Or5b109	UTSW	19	13,212,040 (GRCm39)	missense	possibly damaging	0.80
R1316:Or5b109	UTSW	19	13,211,803 (GRCm39)	missense	probably damaging	1.00
R1465:Or5b109	UTSW	19	13,212,265 (GRCm39)	missense	possibly damaging	0.61
R1465:Or5b109	UTSW	19	13,212,265 (GRCm39)	missense	possibly damaging	0.61
R1900:Or5b109	UTSW	19	13,212,277 (GRCm39)	missense	possibly damaging	0.54
R1927:Or5b109	UTSW	19	13,212,393 (GRCm39)	missense	probably damaging	1.00
R2239:Or5b109	UTSW	19	13,212,085 (GRCm39)	missense	probably benign	0.00
R2380:Or5b109	UTSW	19	13,212,085 (GRCm39)	missense	probably benign	0.00
R3760:Or5b109	UTSW	19	13,212,250 (GRCm39)	missense	probably damaging	1.00
R3765:Or5b109	UTSW	19	13,211,795 (GRCm39)	missense	probably damaging	1.00
R3835:Or5b109	UTSW	19	13,212,103 (GRCm39)	missense	probably benign	0.18
R4690:Or5b109	UTSW	19	13,212,132 (GRCm39)	missense	possibly damaging	0.91
R4907:Or5b109	UTSW	19	13,212,157 (GRCm39)	missense	probably damaging	1.00
R5444:Or5b109	UTSW	19	13,212,322 (GRCm39)	missense	probably benign	0.28
R5465:Or5b109	UTSW	19	13,212,052 (GRCm39)	missense	probably benign	0.00
R6083:Or5b109	UTSW	19	13,211,889 (GRCm39)	missense	probably benign	0.01
R6259:Or5b109	UTSW	19	13,211,785 (GRCm39)	missense	probably damaging	0.98
R6324:Or5b109	UTSW	19	13,212,468 (GRCm39)	missense	possibly damaging	0.95
R6561:Or5b109	UTSW	19	13,212,394 (GRCm39)	missense	probably damaging	1.00
R6845:Or5b109	UTSW	19	13,211,997 (GRCm39)	missense	probably damaging	1.00
R7260:Or5b109	UTSW	19	13,212,388 (GRCm39)	missense	probably damaging	0.98
R7843:Or5b109	UTSW	19	13,211,901 (GRCm39)	missense	possibly damaging	0.48
R8560:Or5b109	UTSW	19	13,211,656 (GRCm39)	missense	possibly damaging	0.91
R8719:Or5b109	UTSW	19	13,211,836 (GRCm39)	missense	probably damaging	0.97
R9207:Or5b109	UTSW	19	13,212,400 (GRCm39)	missense	possibly damaging	0.60
R9273:Or5b109	UTSW	19	13,212,268 (GRCm39)	missense	probably damaging	1.00
R9607:Or5b109	UTSW	19	13,211,953 (GRCm39)	missense
X0063:Or5b109	UTSW	19	13,211,999 (GRCm39)	missense	probably damaging	1.00
X0067:Or5b109	UTSW	19	13,212,061 (GRCm39)	missense	possibly damaging	0.95

Posted On

2016-08-02