Mutagenetix > Incidental Mutation

Incidental Mutation 'R1476:Or5t9'

164037

Institutional Source

Beutler Lab

Gene Symbol

Or5t9

Ensembl Gene

ENSMUSG00000044213

Gene Name

olfactory receptor family 5 subfamily T member 9

Synonyms

Olfr1094, GA_x6K02T2Q125-48321457-48322449, MOR179-7

MMRRC Submission

039529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R1476 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86659020-86660166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86659542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 149 (S149P)

Ref Sequence

ENSEMBL: ENSMUSP00000148902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105211] [ENSMUST00000217509]

AlphaFold

Q8VF13

Predicted Effect

probably benign
Transcript: ENSMUST00000105211
AA Change: S149P

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100846
Gene: ENSMUSG00000044213
AA Change: S149P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	320	4.6e-52	PFAM
Pfam:7tm_1	53	316	3.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217509
AA Change: S149P

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.2667

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

95% (80/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,528 (GRCm39)		probably benign	Het
A730015C16Rik	G	A	4: 108,705,205 (GRCm39)	V40M	probably damaging	Het
Abcg2	A	G	6: 58,655,322 (GRCm39)	D419G	probably benign	Het
Adamts17	A	C	7: 66,725,091 (GRCm39)	E777A	probably damaging	Het
Ak1	A	G	2: 32,523,478 (GRCm39)	K166R	probably benign	Het
Ankrd12	T	C	17: 66,293,300 (GRCm39)	K711R	probably damaging	Het
Ate1	A	T	7: 130,020,301 (GRCm39)		probably null	Het
Atp5f1a	A	G	18: 77,869,625 (GRCm39)	H519R	probably benign	Het
Best1	G	T	19: 9,967,853 (GRCm39)	Y284*	probably null	Het
C2cd6	A	G	1: 59,115,887 (GRCm39)		probably benign	Het
Casz1	G	T	4: 149,030,628 (GRCm39)	V1216L	probably benign	Het
Cdc42bpg	A	G	19: 6,363,812 (GRCm39)	D493G	probably damaging	Het
Ces2f	A	G	8: 105,679,134 (GRCm39)	D317G	possibly damaging	Het
Chst15	A	T	7: 131,872,002 (GRCm39)	M93K	possibly damaging	Het
Cntnap5a	T	C	1: 115,828,750 (GRCm39)	L58P	probably damaging	Het
Crip3	T	C	17: 46,741,702 (GRCm39)		probably benign	Het
Csmd2	G	A	4: 128,380,794 (GRCm39)	E2117K	probably benign	Het
Cstf3	A	G	2: 104,478,564 (GRCm39)	D212G	possibly damaging	Het
Cttnbp2	T	C	6: 18,434,220 (GRCm39)	K546R	probably damaging	Het
Cubn	A	G	2: 13,480,931 (GRCm39)	I308T	probably benign	Het
Cxcl9	T	A	5: 92,472,972 (GRCm39)	D75V	probably damaging	Het
Dcdc5	C	T	2: 106,188,977 (GRCm39)		noncoding transcript	Het
Defa30	C	A	8: 21,624,752 (GRCm39)	T25K	possibly damaging	Het
Dock7	A	T	4: 98,967,672 (GRCm39)	H239Q	possibly damaging	Het
Dpp4	A	G	2: 62,178,245 (GRCm39)	V629A	possibly damaging	Het
Fam83a	T	C	15: 57,873,341 (GRCm39)	M390T	probably benign	Het
Fem1c	A	G	18: 46,657,552 (GRCm39)	L54P	probably damaging	Het
Fntb	T	A	12: 76,957,007 (GRCm39)	M282K	probably benign	Het
Galnt2l	A	G	8: 122,996,323 (GRCm39)		probably benign	Het
Gm11099	G	A	2: 58,749,482 (GRCm39)		probably benign	Het
Gm1527	T	C	3: 28,980,705 (GRCm39)	S602P	probably benign	Het
Gm5478	T	A	15: 101,553,080 (GRCm39)	I331F	probably damaging	Het
Gm7853	C	A	14: 35,811,540 (GRCm39)		noncoding transcript	Het
Gsta2	A	T	9: 78,249,147 (GRCm39)	C18S	probably benign	Het
H1f8	T	C	6: 115,924,701 (GRCm39)	V69A	possibly damaging	Het
Hecw1	T	C	13: 14,480,671 (GRCm39)	E465G	probably damaging	Het
Herc1	A	G	9: 66,415,548 (GRCm39)	D4841G	probably damaging	Het
Hus1b	A	G	13: 31,130,984 (GRCm39)	V225A	probably benign	Het
Keg1	A	T	19: 12,693,387 (GRCm39)	M137L	probably benign	Het
Kmt2a	C	T	9: 44,735,932 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mga	T	A	2: 119,772,156 (GRCm39)	V1672E	probably damaging	Het
Mios	T	C	6: 8,234,237 (GRCm39)	S803P	probably benign	Het
Mrtfa	T	C	15: 80,902,409 (GRCm39)		probably benign	Het
Msh4	A	T	3: 153,569,021 (GRCm39)	Y851N	probably damaging	Het
Mybl1	A	C	1: 9,742,886 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,183,221 (GRCm39)	Y865C	probably damaging	Het
Naip1	T	C	13: 100,563,378 (GRCm39)	S596G	probably benign	Het
Nek5	G	T	8: 22,586,747 (GRCm39)	Q355K	possibly damaging	Het
Nphp3	G	T	9: 103,903,126 (GRCm39)	R701L	possibly damaging	Het
Or52n2	A	T	7: 104,542,444 (GRCm39)	Y130*	probably null	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Or5m10	T	A	2: 85,717,592 (GRCm39)	Y149*	probably null	Het
Or9g4	T	A	2: 85,505,262 (GRCm39)	T78S	possibly damaging	Het
Palm	A	G	10: 79,651,021 (GRCm39)	N149D	possibly damaging	Het
Pot1b	T	C	17: 55,960,451 (GRCm39)	I626M	possibly damaging	Het
Ptprt	T	A	2: 161,769,404 (GRCm39)	D487V	probably damaging	Het
Qpct	A	G	17: 79,378,201 (GRCm39)	I124V	probably benign	Het
Rbm12b1	T	A	4: 12,145,817 (GRCm39)	D596E	possibly damaging	Het
Rnf157	A	G	11: 116,245,585 (GRCm39)	C277R	probably damaging	Het
Rnf169	A	G	7: 99,574,535 (GRCm39)	S687P	possibly damaging	Het
Sfxn1	T	A	13: 54,246,469 (GRCm39)		probably null	Het
Slc6a21	T	C	7: 44,922,052 (GRCm39)	V649A	probably benign	Het
Slit3	A	T	11: 35,577,126 (GRCm39)	T1120S	probably damaging	Het
Spem2	A	T	11: 69,708,896 (GRCm39)	M58K	probably benign	Het
Sprr2k	T	A	3: 92,340,703 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,440,334 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,769,791 (GRCm39)	F584I	possibly damaging	Het
Tkfc	A	T	19: 10,572,690 (GRCm39)	M317K	probably null	Het
Tnni3k	C	T	3: 154,735,942 (GRCm39)	G134S	probably benign	Het
Ttn	C	T	2: 76,570,124 (GRCm39)	R26923H	probably damaging	Het
Tuba3b	T	C	6: 145,564,179 (GRCm39)	V75A	possibly damaging	Het
Unc79	T	C	12: 103,149,784 (GRCm39)	L2626P	probably damaging	Het
Usp24	A	T	4: 106,219,130 (GRCm39)	I491F	probably damaging	Het
V1ra8	A	T	6: 90,180,132 (GRCm39)	I112F	probably damaging	Het
Vmn1r29	T	G	6: 58,284,663 (GRCm39)	F128V	probably benign	Het
Wdr87-ps	A	G	7: 29,234,315 (GRCm39)		noncoding transcript	Het
Zfp157	T	A	5: 138,453,357 (GRCm39)		probably null	Het

Other mutations in Or5t9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02839:Or5t9	APN	2	86,659,712 (GRCm39)	missense	probably benign
IGL03053:Or5t9	APN	2	86,659,607 (GRCm39)	missense	possibly damaging	0.93
IGL03168:Or5t9	APN	2	86,659,607 (GRCm39)	missense	possibly damaging	0.93
IGL02799:Or5t9	UTSW	2	86,659,300 (GRCm39)	missense	probably damaging	0.99
R0511:Or5t9	UTSW	2	86,659,950 (GRCm39)	missense	probably benign	0.02
R0944:Or5t9	UTSW	2	86,659,281 (GRCm39)	missense	probably benign	0.01
R1065:Or5t9	UTSW	2	86,659,888 (GRCm39)	missense	probably damaging	0.98
R1807:Or5t9	UTSW	2	86,659,445 (GRCm39)	missense	probably benign	0.03
R2865:Or5t9	UTSW	2	86,659,198 (GRCm39)	missense	probably benign	0.21
R2915:Or5t9	UTSW	2	86,659,570 (GRCm39)	missense	probably benign	0.02
R3055:Or5t9	UTSW	2	86,659,471 (GRCm39)	missense	possibly damaging	0.94
R3104:Or5t9	UTSW	2	86,660,035 (GRCm39)	missense	probably benign	0.03
R4862:Or5t9	UTSW	2	86,659,876 (GRCm39)	missense	probably damaging	1.00
R4874:Or5t9	UTSW	2	86,659,598 (GRCm39)	missense	probably damaging	0.98
R5505:Or5t9	UTSW	2	86,659,845 (GRCm39)	missense	possibly damaging	0.88
R5507:Or5t9	UTSW	2	86,659,661 (GRCm39)	missense	probably damaging	1.00
R6318:Or5t9	UTSW	2	86,659,998 (GRCm39)	missense	possibly damaging	0.73
R6538:Or5t9	UTSW	2	86,659,869 (GRCm39)	missense	possibly damaging	0.55
R8058:Or5t9	UTSW	2	86,660,052 (GRCm39)	missense	probably benign	0.01
R8285:Or5t9	UTSW	2	86,659,443 (GRCm39)	missense	probably benign	0.03
R9563:Or5t9	UTSW	2	86,659,098 (GRCm39)	start codon destroyed	probably null	0.04

Predicted Primers

PCR Primer
(F):5'- ATTCCACCGTTGTCACTCCGAAG -3'
(R):5'- TGGACACTCCTGTAAGGTGAGAACC -3'

Sequencing Primer
(F):5'- TCACTCCGAAGATGTTGGTC -3'
(R):5'- GTGATGATCTCAATGGAGCCTAC -3'

Posted On

2014-03-28