Mutagenetix > Incidental Mutation

Incidental Mutation 'R6226:Or10ag53'

504315

Institutional Source

Beutler Lab

Gene Symbol

Or10ag53

Ensembl Gene

ENSMUSG00000070856

Gene Name

olfactory receptor family 10 subfamily AG member 53

Synonyms

GA_x6K02T2Q125-48736906-48737886, MOR273-4P, MOR273-4P, Olfr1530-ps1, MOR264-20, Olfr1115

MMRRC Submission

044397-MU

Accession Numbers

Essential gene?

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

Stock #

R6226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87082184-87083285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87082736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 152 (S152G)

Ref Sequence

ENSEMBL: ENSMUSP00000150996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081986] [ENSMUST00000213513] [ENSMUST00000214119] [ENSMUST00000217196]

AlphaFold

Q7TR53

Predicted Effect

probably benign
Transcript: ENSMUST00000081986
AA Change: S152G

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080647
Gene: ENSMUSG00000070856
AA Change: S152G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	46	323	5e-54	PFAM
Pfam:7tm_1	56	305	3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183480

Predicted Effect

probably benign
Transcript: ENSMUST00000213513
AA Change: S152G

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000214119
AA Change: S152G

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217196
AA Change: S152G

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,293,853 (GRCm39)	T62A	probably benign	Het
Adam33	G	A	2: 130,897,530 (GRCm39)	T265I	probably damaging	Het
Afap1l2	T	C	19: 56,904,560 (GRCm39)	T654A	probably benign	Het
Agrn	A	G	4: 156,258,066 (GRCm39)	S992P	probably damaging	Het
Anapc1	A	G	2: 128,492,292 (GRCm39)	F939L	probably damaging	Het
Anks1	G	A	17: 28,276,304 (GRCm39)	V1016I	probably benign	Het
Ankzf1	A	G	1: 75,173,238 (GRCm39)	T401A	probably benign	Het
Atad1	G	T	19: 32,678,987 (GRCm39)	D105E	probably benign	Het
Carmil2	A	G	8: 106,415,664 (GRCm39)	T313A	possibly damaging	Het
Cdk15	T	C	1: 59,304,792 (GRCm39)	V131A	probably damaging	Het
Cldnd1	A	T	16: 58,551,663 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,948,882 (GRCm39)		probably benign	Het
Cts3	T	A	13: 61,716,535 (GRCm39)	I34L	probably benign	Het
Dnah7b	A	C	1: 46,165,828 (GRCm39)	K498Q	probably benign	Het
Dnase2b	A	G	3: 146,290,318 (GRCm39)	Y218H	probably benign	Het
Dsg2	T	A	18: 20,712,506 (GRCm39)	V170D	probably damaging	Het
Dst	T	C	1: 34,309,955 (GRCm39)	V1543A	probably damaging	Het
Ell3	A	T	2: 121,272,258 (GRCm39)	I72K	probably damaging	Het
Fank1	A	G	7: 133,463,927 (GRCm39)	Y41C	probably benign	Het
Foxd3	T	C	4: 99,545,261 (GRCm39)	Y134H	probably damaging	Het
Frmd6	A	G	12: 70,910,685 (GRCm39)		probably benign	Het
Gale	A	G	4: 135,692,916 (GRCm39)	E53G	possibly damaging	Het
Glis3	A	G	19: 28,294,702 (GRCm39)	S699P	probably damaging	Het
Gm12830	T	A	4: 114,702,246 (GRCm39)	M136K	unknown	Het
Grik3	T	C	4: 125,553,582 (GRCm39)	V438A	probably benign	Het
Gsap	A	G	5: 21,422,429 (GRCm39)	N133D	probably damaging	Het
Gsg1	T	A	6: 135,217,110 (GRCm39)	D239V	probably damaging	Het
H2-T10	A	T	17: 36,431,975 (GRCm39)	W23R	probably damaging	Het
Itgae	A	G	11: 73,031,583 (GRCm39)	T1100A	probably benign	Het
Kcnh7	A	T	2: 62,607,903 (GRCm39)	F559L	probably damaging	Het
Kdm5b	G	T	1: 134,536,616 (GRCm39)	R612L	probably damaging	Het
Lrrc74a	T	A	12: 86,795,231 (GRCm39)	N253K	possibly damaging	Het
Mcm3ap	A	G	10: 76,351,540 (GRCm39)	H1961R	possibly damaging	Het
Ncam1	C	T	9: 49,476,304 (GRCm39)	E262K	probably benign	Het
Nckap1	A	G	2: 80,339,125 (GRCm39)	S968P	possibly damaging	Het
Nkapd1	T	C	9: 50,519,070 (GRCm39)	T181A	possibly damaging	Het
Nr2f2	T	G	7: 70,009,744 (GRCm39)	S112R	probably benign	Het
Nup93	T	C	8: 95,013,165 (GRCm39)	W137R	probably damaging	Het
Or2t26	A	G	11: 49,039,660 (GRCm39)	D192G	possibly damaging	Het
Or4a78	A	T	2: 89,497,333 (GRCm39)	L299H	probably damaging	Het
Or52n1	A	T	7: 104,383,243 (GRCm39)	F109L	probably damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Or8b55	T	C	9: 38,727,666 (GRCm39)	I289T	probably damaging	Het
Otogl	A	T	10: 107,607,067 (GRCm39)	Y2105*	probably null	Het
Pibf1	A	G	14: 99,338,555 (GRCm39)	S24G	probably damaging	Het
Pitx2	C	T	3: 129,009,491 (GRCm39)	R130W	probably damaging	Het
Pkd1l1	T	C	11: 8,851,287 (GRCm39)	N715S	probably benign	Het
Pou6f2	A	T	13: 18,303,739 (GRCm39)	I123N	possibly damaging	Het
Prss29	T	A	17: 25,539,513 (GRCm39)	H35Q	possibly damaging	Het
Ptpn21	A	G	12: 98,646,375 (GRCm39)	F1028L	probably benign	Het
Ptpn21	A	T	12: 98,681,431 (GRCm39)	Y68N	probably damaging	Het
Ptprk	A	G	10: 28,440,099 (GRCm39)	T856A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpl22l1	A	G	3: 28,860,676 (GRCm39)	T13A	possibly damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sec14l5	G	A	16: 4,994,429 (GRCm39)	V408I	probably damaging	Het
Serpina5	T	C	12: 104,068,037 (GRCm39)	S33P	possibly damaging	Het
Sgip1	A	G	4: 102,823,392 (GRCm39)	N524S	probably damaging	Het
Shkbp1	C	A	7: 27,051,405 (GRCm39)	R218M	probably null	Het
Sorcs1	T	A	19: 50,169,852 (GRCm39)	I970F	probably damaging	Het
Spg11	A	G	2: 121,918,743 (GRCm39)	V962A	possibly damaging	Het
Sptbn1	A	G	11: 30,086,054 (GRCm39)	M1205T	probably damaging	Het
Sufu	G	A	19: 46,462,093 (GRCm39)	V369M	probably damaging	Het
Tmem98	T	C	11: 80,712,220 (GRCm39)	F219S	probably benign	Het
Trim27	T	C	13: 21,365,086 (GRCm39)		probably benign	Het
Trim43b	T	C	9: 88,973,328 (GRCm39)	E135G	possibly damaging	Het
Ube2m	A	G	7: 12,769,815 (GRCm39)	V110A	probably damaging	Het
Ugt2b36	A	G	5: 87,239,989 (GRCm39)	V132A	probably damaging	Het
Usp36	A	T	11: 118,168,100 (GRCm39)	S86T	probably damaging	Het
Zfp941	A	T	7: 140,392,398 (GRCm39)	D320E	probably benign	Het

Other mutations in Or10ag53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Or10ag53	APN	2	87,082,806 (GRCm39)	missense	probably damaging	1.00
IGL01376:Or10ag53	APN	2	87,083,217 (GRCm39)	missense	possibly damaging	0.58
IGL02167:Or10ag53	APN	2	87,082,542 (GRCm39)	missense	probably benign	0.18
IGL02224:Or10ag53	APN	2	87,082,821 (GRCm39)	missense	probably benign	0.42
IGL02388:Or10ag53	APN	2	87,082,295 (GRCm39)	missense	probably benign
IGL02596:Or10ag53	APN	2	87,082,473 (GRCm39)	missense	probably damaging	0.98
PIT4131001:Or10ag53	UTSW	2	87,082,973 (GRCm39)	missense	probably benign	0.01
R0140:Or10ag53	UTSW	2	87,082,969 (GRCm39)	missense	probably damaging	1.00
R0468:Or10ag53	UTSW	2	87,082,599 (GRCm39)	missense	probably benign	0.04
R1222:Or10ag53	UTSW	2	87,082,766 (GRCm39)	missense	probably benign	0.04
R1418:Or10ag53	UTSW	2	87,082,766 (GRCm39)	missense	probably benign	0.04
R1742:Or10ag53	UTSW	2	87,083,122 (GRCm39)	missense	probably benign	0.01
R1822:Or10ag53	UTSW	2	87,083,054 (GRCm39)	missense	possibly damaging	0.91
R2332:Or10ag53	UTSW	2	87,083,217 (GRCm39)	missense	possibly damaging	0.58
R3123:Or10ag53	UTSW	2	87,083,135 (GRCm39)	missense	possibly damaging	0.67
R3407:Or10ag53	UTSW	2	87,083,243 (GRCm39)	missense	probably benign	0.00
R4571:Or10ag53	UTSW	2	87,082,802 (GRCm39)	missense	possibly damaging	0.67
R4710:Or10ag53	UTSW	2	87,082,384 (GRCm39)	missense	possibly damaging	0.64
R4889:Or10ag53	UTSW	2	87,082,991 (GRCm39)	missense	probably damaging	0.97
R5031:Or10ag53	UTSW	2	87,082,426 (GRCm39)	missense	probably benign
R5288:Or10ag53	UTSW	2	87,082,827 (GRCm39)	missense	probably benign	0.06
R5385:Or10ag53	UTSW	2	87,082,827 (GRCm39)	missense	probably benign	0.06
R5386:Or10ag53	UTSW	2	87,082,827 (GRCm39)	missense	probably benign	0.06
R5669:Or10ag53	UTSW	2	87,082,785 (GRCm39)	missense	probably benign	0.00
R6187:Or10ag53	UTSW	2	87,083,042 (GRCm39)	missense	probably damaging	1.00
R6598:Or10ag53	UTSW	2	87,083,100 (GRCm39)	missense	probably damaging	0.96
R8208:Or10ag53	UTSW	2	87,083,007 (GRCm39)	missense	probably benign	0.24
R8493:Or10ag53	UTSW	2	87,083,215 (GRCm39)	missense	probably benign	0.24
R8724:Or10ag53	UTSW	2	87,082,704 (GRCm39)	missense	probably damaging	1.00
R8965:Or10ag53	UTSW	2	87,082,901 (GRCm39)	missense	possibly damaging	0.86
R9015:Or10ag53	UTSW	2	87,082,546 (GRCm39)	nonsense	probably null
R9302:Or10ag53	UTSW	2	87,082,906 (GRCm39)	missense	probably benign	0.10
R9742:Or10ag53	UTSW	2	87,082,376 (GRCm39)	missense	probably benign	0.29
R9758:Or10ag53	UTSW	2	87,082,439 (GRCm39)	missense	possibly damaging	0.79
R9775:Or10ag53	UTSW	2	87,082,568 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACAAGAGTTGAACCCACTCTG -3'
(R):5'- GATGTTCCCACATGCCAATC -3'

Sequencing Primer
(F):5'- GTCACTCTTCCTAGAATGCTTATGG -3'
(R):5'- CCACATGCCAATCTGAGTAGTGG -3'

Posted On

2018-02-28