Mutagenetix > Incidental Mutation

Incidental Mutation 'R9099:Or8g53'

691550

Institutional Source

Beutler Lab

Gene Symbol

Or8g53

Ensembl Gene

ENSMUSG00000095903

Gene Name

olfactory receptor family 8 subfamily G member 53

Synonyms

Olfr968, GA_x6K02T2PVTD-33470347-33469403, MOR171-15

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R9099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39683068-39684094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39683514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 194 (I194T)

Ref Sequence

ENSEMBL: ENSMUSP00000148969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075928] [ENSMUST00000216458]

AlphaFold

Q8VFN4

Predicted Effect

probably benign
Transcript: ENSMUST00000075928
AA Change: I194T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000096472
Gene: ENSMUSG00000095903
AA Change: I194T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1e-51	PFAM
Pfam:7tm_1	41	290	2e-22	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (61/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,871,708 (GRCm39)	M90K	probably damaging	Het
Actn2	T	C	13: 12,303,516 (GRCm39)	D428G	probably damaging	Het
Arrb1	T	C	7: 99,243,836 (GRCm39)	V262A	probably damaging	Het
Bok	A	G	1: 93,622,661 (GRCm39)	I102V		Het
C87436	T	A	6: 86,439,567 (GRCm39)	F419L	probably damaging	Het
Capn15	A	G	17: 26,192,141 (GRCm39)	C34R	probably benign	Het
Ccdc8	T	A	7: 16,728,800 (GRCm39)	Y96*	probably null	Het
Cd274	T	A	19: 29,357,771 (GRCm39)	C154*	probably null	Het
Cfap251	A	G	5: 123,418,082 (GRCm39)		probably benign	Het
Ckap4	A	T	10: 84,369,402 (GRCm39)	L110Q	probably damaging	Het
Col26a1	A	T	5: 136,777,202 (GRCm39)	D335E	probably benign	Het
Crybg1	C	T	10: 43,874,844 (GRCm39)	V755I	probably benign	Het
Dhx38	A	T	8: 110,282,783 (GRCm39)	Y628N	probably damaging	Het
Dnah12	A	T	14: 26,492,325 (GRCm39)	K1155M	probably benign	Het
Ei24	A	G	9: 36,697,270 (GRCm39)	F153L	probably damaging	Het
Erg	T	A	16: 95,178,188 (GRCm39)	E246D	probably benign	Het
Exoc6b	T	C	6: 84,982,000 (GRCm39)	N99D	possibly damaging	Het
Fam222b	G	T	11: 78,046,020 (GRCm39)	R527L	probably damaging	Het
Fam83h	T	C	15: 75,875,135 (GRCm39)	Y734C	probably damaging	Het
Fbxo43	T	C	15: 36,162,619 (GRCm39)	E196G	possibly damaging	Het
Gata5	G	A	2: 179,976,131 (GRCm39)	P11L	possibly damaging	Het
Gbp3	A	T	3: 142,271,048 (GRCm39)	S151C	probably benign	Het
Gli3	T	C	13: 15,901,320 (GRCm39)	L1569P	probably damaging	Het
Helz	G	A	11: 107,523,041 (GRCm39)	V742M	probably damaging	Het
Ifi27l2b	A	T	12: 103,418,114 (GRCm39)	N175K	unknown	Het
Itga1	A	T	13: 115,185,856 (GRCm39)	Y49N	probably damaging	Het
Kcnk2	T	C	1: 188,991,072 (GRCm39)	T167A	probably damaging	Het
Kirrel2	T	A	7: 30,147,642 (GRCm39)	T669S	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrit2	A	T	14: 36,790,812 (GRCm39)	T164S	possibly damaging	Het
Lrriq1	A	G	10: 103,051,864 (GRCm39)	V296A	probably damaging	Het
Malsu1	C	T	6: 49,050,731 (GRCm39)		probably benign	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Nfs1	C	T	2: 155,968,934 (GRCm39)	G380E	probably damaging	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543 (GRCm39)		probably null	Het
Nup98	T	A	7: 101,844,173 (GRCm39)	N54I	probably damaging	Het
Or7g21	C	T	9: 19,032,890 (GRCm39)	P210L	probably benign	Het
Or8g22	A	T	9: 38,958,026 (GRCm39)	C230S	probably benign	Het
Otoa	T	A	7: 120,739,055 (GRCm39)	F755I	probably benign	Het
P4htm	A	T	9: 108,460,911 (GRCm39)	M187K	probably benign	Het
Phldb3	C	T	7: 24,323,727 (GRCm39)	R453C	probably benign	Het
Pkd1l1	C	T	11: 8,922,986 (GRCm39)	A94T		Het
Pkp1	A	G	1: 135,805,429 (GRCm39)	F669S	probably benign	Het
Prl8a2	C	G	13: 27,536,793 (GRCm39)	Y138*	probably null	Het
Prl8a2	T	A	13: 27,536,794 (GRCm39)	Y139N	probably benign	Het
Rtn4r	T	A	16: 17,969,068 (GRCm39)	N165K	probably benign	Het
Scaper	G	T	9: 55,669,616 (GRCm39)	D353E	probably damaging	Het
Scn4a	G	T	11: 106,211,000 (GRCm39)	D1672E	probably damaging	Het
She	A	G	3: 89,739,078 (GRCm39)	S90G	probably benign	Het
Shmt2	A	T	10: 127,355,962 (GRCm39)	D130E	possibly damaging	Het
Slc2a12	T	A	10: 22,569,923 (GRCm39)	I538K	possibly damaging	Het
Snx29	T	A	16: 11,478,435 (GRCm39)	W322R	probably damaging	Het
Spp1	A	G	5: 104,588,387 (GRCm39)	D263G	probably benign	Het
Srek1ip1	T	C	13: 104,973,964 (GRCm39)	S124P	possibly damaging	Het
Tcp10b	C	T	17: 13,280,656 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,364,600 (GRCm39)	F256S	probably damaging	Het
Tpte	T	C	8: 22,845,497 (GRCm39)	Y516H		Het
Trem1	C	A	17: 48,544,271 (GRCm39)	Q99K	possibly damaging	Het
Umodl1	C	T	17: 31,178,147 (GRCm39)	P41L	probably benign	Het
Upp2	T	C	2: 58,457,542 (GRCm39)		probably null	Het
Zfand1	A	T	3: 10,406,148 (GRCm39)	M181K	probably damaging	Het
Zfp292	T	C	4: 34,809,228 (GRCm39)	E1277G	possibly damaging	Het
Zfp458	G	T	13: 67,405,696 (GRCm39)	P248T	probably damaging	Het
Zfp667	T	A	7: 6,308,322 (GRCm39)	M330K	probably benign	Het
Zfp827	A	G	8: 79,917,107 (GRCm39)	T561A		Het
Zfp947	C	T	17: 22,364,855 (GRCm39)	G273D	probably benign	Het

Other mutations in Or8g53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Or8g53	APN	9	39,683,407 (GRCm39)	missense	possibly damaging	0.78
IGL01109:Or8g53	APN	9	39,683,293 (GRCm39)	missense	probably benign	0.06
IGL01809:Or8g53	APN	9	39,683,990 (GRCm39)	nonsense	probably null
IGL02517:Or8g53	APN	9	39,683,800 (GRCm39)	missense	probably damaging	0.98
IGL02708:Or8g53	APN	9	39,683,214 (GRCm39)	missense	probably damaging	1.00
IGL03061:Or8g53	APN	9	39,683,458 (GRCm39)	missense	probably benign	0.41
K3955:Or8g53	UTSW	9	39,683,469 (GRCm39)	missense	probably benign	0.00
R1786:Or8g53	UTSW	9	39,683,791 (GRCm39)	missense	probably benign	0.00
R1897:Or8g53	UTSW	9	39,683,361 (GRCm39)	missense	probably damaging	0.99
R2424:Or8g53	UTSW	9	39,683,593 (GRCm39)	missense	probably benign	0.39
R3016:Or8g53	UTSW	9	39,683,979 (GRCm39)	missense	probably benign	0.41
R3862:Or8g53	UTSW	9	39,683,920 (GRCm39)	missense	probably benign	0.39
R5987:Or8g53	UTSW	9	39,683,836 (GRCm39)	missense	probably benign	0.00
R5995:Or8g53	UTSW	9	39,683,988 (GRCm39)	missense	probably benign	0.03
R6184:Or8g53	UTSW	9	39,683,916 (GRCm39)	missense	probably damaging	1.00
R6297:Or8g53	UTSW	9	39,683,522 (GRCm39)	missense	possibly damaging	0.45
R7402:Or8g53	UTSW	9	39,683,260 (GRCm39)	missense	probably benign	0.45
R7650:Or8g53	UTSW	9	39,683,169 (GRCm39)	missense	probably benign	0.01
R8179:Or8g53	UTSW	9	39,683,200 (GRCm39)	missense	probably benign	0.00
R8832:Or8g53	UTSW	9	39,683,886 (GRCm39)	missense	probably damaging	1.00
R8987:Or8g53	UTSW	9	39,683,688 (GRCm39)	missense	probably benign	0.35
R9019:Or8g53	UTSW	9	39,684,038 (GRCm39)	missense	probably benign
R9185:Or8g53	UTSW	9	39,683,404 (GRCm39)	missense	probably benign	0.21
X0028:Or8g53	UTSW	9	39,684,090 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCTGCAGGTACATGAATGC -3'
(R):5'- GCCCTTGCTTTACAATGCTG -3'

Sequencing Primer
(F):5'- CAGGTACATGAATGCAAGGGATCC -3'
(R):5'- GCCCTTGCTTTACAATGCTGTAATG -3'

Posted On

2021-12-30