Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4812001:Or5an9'

556948

Institutional Source

Beutler Lab

Gene Symbol

Or5an9

Ensembl Gene

ENSMUSG00000094133

Gene Name

olfactory receptor family 5 subfamily AN member 9

Synonyms

MOR214-5, Olfr1431, GA_x6K02T2RE5P-2573738-2574676

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

PIT4812001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12186932-12187870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12187617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 229 (I229S)

Ref Sequence

ENSEMBL: ENSMUSP00000150967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072316] [ENSMUST00000213759]

AlphaFold

Q8VF59

Predicted Effect

probably damaging
Transcript: ENSMUST00000072316
AA Change: I229S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072158
Gene: ENSMUSG00000094133
AA Change: I229S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	8.4e-56	PFAM
Pfam:7tm_1	42	309	2.4e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213759
AA Change: I229S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 93.8%
3x: 91.0%
10x: 85.3%
20x: 73.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,630,053 (GRCm39)	S252P	possibly damaging	Het
4933409G03Rik	G	A	2: 68,419,292 (GRCm39)	V14I	probably benign	Het
Adgrf5	T	G	17: 43,761,260 (GRCm39)	V985G	probably damaging	Het
Ankrd44	A	T	1: 54,762,197 (GRCm39)	Y542*	probably null	Het
Atp13a3	T	C	16: 30,181,396 (GRCm39)	T75A	probably damaging	Het
Atr	T	C	9: 95,792,702 (GRCm39)	F1675L	probably benign	Het
Atrnl1	A	G	19: 57,720,055 (GRCm39)	I1082V	probably benign	Het
Clip1	T	A	5: 123,768,738 (GRCm39)	R620S	probably benign	Het
Cped1	T	C	6: 22,122,293 (GRCm39)	F391S	probably benign	Het
Cracr2a	T	C	6: 127,602,833 (GRCm39)	L230P	probably damaging	Het
Dctn1	T	A	6: 83,176,744 (GRCm39)	V1266E	possibly damaging	Het
Dlg1	T	A	16: 31,665,703 (GRCm39)	F687I	probably benign	Het
Dnah8	C	A	17: 30,927,419 (GRCm39)	D1358E	probably benign	Het
Dnajc11	A	G	4: 152,037,346 (GRCm39)	R84G	probably benign	Het
Dnajc14	C	A	10: 128,642,552 (GRCm39)	T158N	probably damaging	Het
Dscc1	A	G	15: 54,945,657 (GRCm39)	L346P	probably damaging	Het
Efcab3	A	G	11: 104,990,805 (GRCm39)	I71V	probably null	Het
Erbb3	T	A	10: 128,410,248 (GRCm39)	Q670L	possibly damaging	Het
Ercc4	G	A	16: 12,962,311 (GRCm39)	E652K	probably benign	Het
Ercc6l2	T	A	13: 64,006,071 (GRCm39)	V591D	possibly damaging	Het
Fam3c	C	T	6: 22,321,369 (GRCm39)	G134E	probably damaging	Het
Frmd5	A	G	2: 121,416,927 (GRCm39)	V70A	probably benign	Het
Gjd3	A	T	11: 102,691,807 (GRCm39)	Y65*	probably null	Het
Gm3033	A	C	14: 3,848,891 (GRCm38)	L137F		Het
Gria4	C	A	9: 4,427,128 (GRCm39)	A771S	probably damaging	Het
Hc	A	G	2: 34,919,464 (GRCm39)	L674P	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hycc2	T	G	1: 58,587,862 (GRCm39)	D117A	possibly damaging	Het
Inpp5f	A	T	7: 128,294,032 (GRCm39)	Y696F	probably benign	Het
Itga11	C	A	9: 62,639,475 (GRCm39)	Q157K	probably damaging	Het
Itgb5	G	T	16: 33,740,357 (GRCm39)	C489F	probably damaging	Het
Klhl38	C	T	15: 58,185,938 (GRCm39)	G264S	probably benign	Het
Krt78	C	T	15: 101,856,504 (GRCm39)	V436M	probably damaging	Het
Mia2	A	T	12: 59,148,365 (GRCm39)	D75V	possibly damaging	Het
Mphosph6	T	A	8: 118,525,888 (GRCm39)	Q20L	probably damaging	Het
Ogfr	C	T	2: 180,237,304 (GRCm39)	P630S	possibly damaging	Het
Or2c1	A	T	16: 3,657,394 (GRCm39)	K186*	probably null	Het
Or4c11	G	A	2: 88,695,314 (GRCm39)	V122M	probably benign	Het
Pbx3	T	C	2: 34,114,631 (GRCm39)	E101G	probably damaging	Het
Pcca	T	A	14: 123,027,794 (GRCm39)	N587K	probably benign	Het
Pdia3	G	T	2: 121,264,011 (GRCm39)	A287S	probably damaging	Het
Pfas	T	A	11: 68,880,862 (GRCm39)	D209V		Het
Pramel29	A	G	4: 143,936,086 (GRCm39)	I56T	probably benign	Het
Pter	A	T	2: 12,985,179 (GRCm39)	I170F	probably damaging	Het
Ptprq	A	T	10: 107,502,428 (GRCm39)	V830E	probably damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Rbm19	T	C	5: 120,266,315 (GRCm39)	V446A	possibly damaging	Het
Selp	A	G	1: 163,959,832 (GRCm39)	N363D	probably benign	Het
Six2	C	A	17: 85,992,729 (GRCm39)	S258I	possibly damaging	Het
Smc1b	A	G	15: 84,953,852 (GRCm39)	V1139A	possibly damaging	Het
Sp1	A	G	15: 102,316,843 (GRCm39)	T121A	possibly damaging	Het
Sucla2	A	T	14: 73,816,889 (GRCm39)	I210L	possibly damaging	Het
Trank1	T	C	9: 111,176,980 (GRCm39)	L339P	probably damaging	Het
Ttll5	T	A	12: 85,973,635 (GRCm39)	D794E	probably benign	Het
Usp32	C	T	11: 84,900,900 (GRCm39)	V1107I	probably damaging	Het
Vmn1r195	T	C	13: 22,463,033 (GRCm39)	Y168H	probably benign	Het
Vmn1r223	A	G	13: 23,434,060 (GRCm39)	N218S	probably damaging	Het
Vmn2r25	T	A	6: 123,800,447 (GRCm39)	S632C	probably damaging	Het
Vwa3a	A	T	7: 120,375,356 (GRCm39)	K390I	probably damaging	Het
Zfp442	A	T	2: 150,251,661 (GRCm39)	C80*	probably null	Het
Zic1	A	T	9: 91,246,394 (GRCm39)	I226N	probably damaging	Het

Other mutations in Or5an9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Or5an9	APN	19	12,187,404 (GRCm39)	missense	possibly damaging	0.65
IGL02206:Or5an9	APN	19	12,187,824 (GRCm39)	missense	probably damaging	1.00
IGL02938:Or5an9	APN	19	12,187,046 (GRCm39)	missense	probably benign	0.00
R0402:Or5an9	UTSW	19	12,186,953 (GRCm39)	missense	probably damaging	1.00
R0661:Or5an9	UTSW	19	12,187,068 (GRCm39)	missense	probably damaging	1.00
R1193:Or5an9	UTSW	19	12,187,803 (GRCm39)	missense	probably damaging	1.00
R1483:Or5an9	UTSW	19	12,187,114 (GRCm39)	nonsense	probably null
R4091:Or5an9	UTSW	19	12,187,143 (GRCm39)	missense	probably damaging	1.00
R4280:Or5an9	UTSW	19	12,187,302 (GRCm39)	missense	probably damaging	1.00
R5028:Or5an9	UTSW	19	12,187,518 (GRCm39)	missense	possibly damaging	0.94
R5540:Or5an9	UTSW	19	12,187,824 (GRCm39)	missense	probably damaging	1.00
R6042:Or5an9	UTSW	19	12,187,286 (GRCm39)	missense	probably damaging	0.99
R6045:Or5an9	UTSW	19	12,187,659 (GRCm39)	missense	probably damaging	1.00
R7104:Or5an9	UTSW	19	12,187,242 (GRCm39)	missense	possibly damaging	0.82
R9068:Or5an9	UTSW	19	12,187,703 (GRCm39)	missense	probably damaging	1.00
R9165:Or5an9	UTSW	19	12,187,286 (GRCm39)	missense	probably damaging	0.99
Z1088:Or5an9	UTSW	19	12,187,854 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGGACTCACAGGCTCTGTATC -3'
(R):5'- CATGGGAATCACCACAGTGTAG -3'

Sequencing Primer
(F):5'- CAGATATGTGCCTTGCTGCAGC -3'
(R):5'- TCACCACAGTGTAGAAGACAGATGTG -3'

Posted On

2019-06-07