Mutagenetix > Incidental Mutation

Incidental Mutation 'R5507:Or5t9'

430958

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

043068-MU

Accession Numbers

Essential gene?

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

Stock #

R5507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86659020-86660166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86659661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 188 (H188Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148902 (fasta)

Gene Model

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

AlphaFold

Q8VF13

Predicted Effect

probably damaging
Transcript: ENSMUST00000105211
AA Change: H188Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100846
Gene: ENSMUSG00000044213
AA Change: H188Q

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 damaging
Transcript: ENSMUST00000217509
AA Change: H188Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.2977

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

Validation Efficiency

100% (66/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,084 (GRCm39)	T97A	probably damaging	Het
1700017N19Rik	T	C	10: 100,445,095 (GRCm39)	S27P	probably benign	Het
Acoxl	C	A	2: 127,726,394 (GRCm39)	A256E	probably damaging	Het
Akap9	A	G	5: 4,018,683 (GRCm39)	E1088G	probably benign	Het
Alox12	T	C	11: 70,145,238 (GRCm39)	T112A	possibly damaging	Het
Ampd2	A	G	3: 107,984,929 (GRCm39)	V379A	probably damaging	Het
Ap4e1	C	A	2: 126,850,818 (GRCm39)	H49N	probably damaging	Het
Arhgap11a	T	C	2: 113,672,023 (GRCm39)	T260A	probably benign	Het
Atg2a	T	C	19: 6,295,100 (GRCm39)	F171S	possibly damaging	Het
Bpifb9b	A	T	2: 154,158,947 (GRCm39)	Y488F	possibly damaging	Het
C2cd2	T	C	16: 97,682,820 (GRCm39)	T139A	probably benign	Het
Cct8l1	A	T	5: 25,721,377 (GRCm39)	T31S	probably benign	Het
Cdhr1	A	T	14: 36,804,802 (GRCm39)	N469K	probably damaging	Het
Chga	T	C	12: 102,528,868 (GRCm39)	S282P	probably benign	Het
Chrnb4	T	G	9: 54,942,296 (GRCm39)	H326P	probably damaging	Het
Cntnap1	A	G	11: 101,074,303 (GRCm39)	T748A	probably benign	Het
Cpsf3	T	A	12: 21,347,929 (GRCm39)	L250H	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dppa5a	T	A	9: 78,275,353 (GRCm39)	D10V	possibly damaging	Het
Dsc2	G	A	18: 20,179,336 (GRCm39)	T244I	probably damaging	Het
Elavl4	T	C	4: 110,070,403 (GRCm39)	T144A	probably benign	Het
Ephb1	C	T	9: 101,813,315 (GRCm39)	V776M	probably damaging	Het
Fcrl1	C	T	3: 87,298,549 (GRCm39)	S348F	probably benign	Het
Fga	T	A	3: 82,940,643 (GRCm39)	W766R	probably damaging	Het
Galnt14	A	G	17: 73,802,661 (GRCm39)	V477A	probably damaging	Het
Gcdh	A	G	8: 85,619,486 (GRCm39)	L103P	probably damaging	Het
Gm27013	G	A	6: 130,652,942 (GRCm39)	T840I	probably damaging	Het
Gpr179	A	T	11: 97,229,156 (GRCm39)	W1000R	probably damaging	Het
Hectd4	C	T	5: 121,419,164 (GRCm39)	A581V	unknown	Het
Ints12	T	A	3: 132,814,921 (GRCm39)	V376E	probably damaging	Het
Krt77	T	C	15: 101,769,665 (GRCm39)	I402V	probably benign	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Meis1	A	T	11: 18,966,168 (GRCm39)	N68K	probably benign	Het
Mthfd1l	A	G	10: 4,056,432 (GRCm39)	E916G	probably benign	Het
Muc5ac	T	C	7: 141,361,569 (GRCm39)	F1627L	possibly damaging	Het
Myef2	A	T	2: 124,958,623 (GRCm39)	M102K	probably benign	Het
Naip6	A	C	13: 100,435,423 (GRCm39)	H1033Q	probably benign	Het
Nid1	T	A	13: 13,663,622 (GRCm39)	C760*	probably null	Het
Nt5dc1	A	T	10: 34,273,226 (GRCm39)	C191S	probably benign	Het
Nup214	A	G	2: 31,878,188 (GRCm39)	E285G	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Otog	A	G	7: 45,911,123 (GRCm39)	E658G	probably damaging	Het
Pam16	G	T	16: 4,435,880 (GRCm39)		probably benign	Het
Psg17	T	C	7: 18,553,851 (GRCm39)	D133G	probably benign	Het
Rabgap1l	A	G	1: 160,178,898 (GRCm39)	S21P	possibly damaging	Het
Rgs22	T	A	15: 36,099,798 (GRCm39)	M306L	probably damaging	Het
Ruvbl1	A	G	6: 88,444,582 (GRCm39)	K59R	probably benign	Het
Samd9l	T	C	6: 3,373,898 (GRCm39)	E1121G	possibly damaging	Het
Serpinb13	A	G	1: 106,926,332 (GRCm39)	N169S	probably benign	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Syn3	A	T	10: 85,916,090 (GRCm39)	S299T	probably benign	Het
Taar7a	A	G	10: 23,868,529 (GRCm39)	L284P	probably damaging	Het
Tlr6	C	A	5: 65,110,749 (GRCm39)	Q719H	probably damaging	Het
Tmem131	T	A	1: 36,928,361 (GRCm39)	D76V	probably damaging	Het
Tradd	T	G	8: 105,986,257 (GRCm39)	D145A	possibly damaging	Het
Usp20	A	T	2: 30,900,238 (GRCm39)	M251L	probably benign	Het
Vmn2r96	T	A	17: 18,818,091 (GRCm39)	L556Q	probably damaging	Het
Xrcc2	A	G	5: 25,897,317 (GRCm39)	S211P	probably benign	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
R1476:Or5t9	UTSW	2	86,659,542 (GRCm39)	missense	probably benign	0.31
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
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'- AATGGCTTATGATCGCTTTGTAGC -3'
(R):5'- AAATGGACACTCCTGTAAGGTG -3'

Sequencing Primer
(F):5'- AGCTATCTACAATCCACTTCTGTATG -3'
(R):5'- GACACTCCTGTAAGGTGAGAACC -3'

Posted On

2016-10-05