Mutagenetix > Incidental Mutation

Incidental Mutation 'R2090:Or10ag56'

231690

Institutional Source

Beutler Lab

Gene Symbol

Or10ag56

Ensembl Gene

ENSMUSG00000083706

Gene Name

olfactory receptor family 10 subfamily AG member 56

Synonyms

Olfr1118, GA_x6K02T2Q125-48795705-48796673, Olfr1118-ps, MOR264-22

MMRRC Submission

040095-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R2090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87139108-87140103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87139762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 230 (I230F)

Ref Sequence

ENSEMBL: ENSMUSP00000150394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090717] [ENSMUST00000121296] [ENSMUST00000216396]

AlphaFold

A0A1L1STN9

Predicted Effect

probably benign
Transcript: ENSMUST00000090717
AA Change: I210F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132837
Gene: ENSMUSG00000070855
AA Change: I210F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	22	298	1.1e-53	PFAM
Pfam:7tm_1	32	281	1.1e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120328

Predicted Effect

probably benign
Transcript: ENSMUST00000121296
AA Change: I210F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000144143
Gene: ENSMUSG00000083706
AA Change: I210F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	22	298	1.2e-51	PFAM
Pfam:7tm_1	32	281	7.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216396
AA Change: I230F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,391,456 (GRCm39)		probably null	Het
Adcy7	A	T	8: 89,042,485 (GRCm39)	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,766,558 (GRCm39)	T410S	possibly damaging	Het
Alg11	G	T	8: 22,555,646 (GRCm39)	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,445,905 (GRCm39)	V310A	possibly damaging	Het
Atg16l2	C	T	7: 100,942,575 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,786,291 (GRCm39)	V299A	probably benign	Het
Birc6	A	G	17: 74,969,791 (GRCm39)	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,271,321 (GRCm39)	K196E	probably benign	Het
Calhm6	A	G	10: 34,002,358 (GRCm39)	S242P	probably damaging	Het
Cdr2l	A	G	11: 115,281,827 (GRCm39)	K111E	probably damaging	Het
Crtam	T	C	9: 40,895,612 (GRCm39)	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,160,493 (GRCm39)	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,824,400 (GRCm39)	Y571*	probably null	Het
Defa39	A	T	8: 22,192,805 (GRCm39)	W64R	possibly damaging	Het
Dpy19l4	T	C	4: 11,304,344 (GRCm39)	Y99C	probably benign	Het
Edem3	C	T	1: 151,680,577 (GRCm39)		probably benign	Het
Enpp6	A	T	8: 47,518,405 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,824 (GRCm39)	D254E	probably benign	Het
Gjb5	T	C	4: 127,249,794 (GRCm39)	N117D	probably benign	Het
Glmn	G	A	5: 107,709,794 (GRCm39)	L337F	probably damaging	Het
Gsdmc2	T	A	15: 63,698,675 (GRCm39)	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,738,631 (GRCm39)	M144L	probably benign	Het
Ibtk	A	G	9: 85,603,046 (GRCm39)	I653T	probably benign	Het
Il24	T	G	1: 130,812,574 (GRCm39)	D99A	possibly damaging	Het
Intu	A	G	3: 40,637,966 (GRCm39)	Q484R	probably benign	Het
Iqca1l	A	G	5: 24,755,674 (GRCm39)	S283P	probably benign	Het
Lsp1	T	C	7: 142,045,544 (GRCm39)		probably benign	Het
Mad1l1	A	G	5: 139,995,011 (GRCm39)	S672P	probably benign	Het
Man2a2	A	T	7: 80,013,858 (GRCm39)		probably benign	Het
Morc3	C	A	16: 93,663,341 (GRCm39)	H515N	probably benign	Het
Nav1	T	C	1: 135,534,903 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,230 (GRCm39)	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,636,818 (GRCm39)	F494L	probably benign	Het
Nr1d1	G	A	11: 98,661,436 (GRCm39)	P277S	probably damaging	Het
Nrg2	T	C	18: 36,151,496 (GRCm39)	D682G	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Oasl1	G	A	5: 115,073,993 (GRCm39)	D301N	probably damaging	Het
Or14a258	A	T	7: 86,035,289 (GRCm39)	I193N	probably benign	Het
Or5h26	A	G	16: 58,988,503 (GRCm39)	M1T	probably null	Het
Palmd	A	G	3: 116,721,083 (GRCm39)	S123P	probably damaging	Het
Patj	A	G	4: 98,325,560 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,655 (GRCm39)	D162G	probably benign	Het
Plppr5	A	G	3: 117,369,520 (GRCm39)	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,369,189 (GRCm39)	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,728,901 (GRCm39)	T363A	probably benign	Het
Poll	A	T	19: 45,547,277 (GRCm39)	I65N	probably benign	Het
Prox1	T	A	1: 189,893,009 (GRCm39)	S479C	probably damaging	Het
Prss50	A	T	9: 110,691,361 (GRCm39)	S222C	probably damaging	Het
Rasa3	A	C	8: 13,632,381 (GRCm39)		probably benign	Het
Sec14l3	T	C	11: 4,025,481 (GRCm39)	V335A	probably benign	Het
Setbp1	C	T	18: 78,899,935 (GRCm39)	S1244N	probably benign	Het
Sgcg	A	T	14: 61,483,213 (GRCm39)	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,400,695 (GRCm39)	I176F	probably benign	Het
Smc6	A	G	12: 11,339,987 (GRCm39)	T432A	probably benign	Het
Snx25	G	A	8: 46,509,150 (GRCm39)	P478L	probably damaging	Het
Taf2	A	T	15: 54,879,882 (GRCm39)	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,749,673 (GRCm39)	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,361,976 (GRCm39)	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,766,361 (GRCm39)	Y410H	probably damaging	Het
Vav3	T	C	3: 109,555,055 (GRCm39)		probably null	Het
Vmn1r224	T	C	17: 20,639,524 (GRCm39)	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458 (GRCm39)	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,644,834 (GRCm39)	D240G	probably benign	Het
Zfp963	A	T	8: 70,195,996 (GRCm39)	C152*	probably null	Het

Other mutations in Or10ag56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Or10ag56	APN	2	87,139,925 (GRCm39)	missense	possibly damaging	0.95
IGL01458:Or10ag56	APN	2	87,139,826 (GRCm39)	missense	probably damaging	1.00
IGL02544:Or10ag56	APN	2	87,139,471 (GRCm39)	missense	possibly damaging	0.91
IGL02748:Or10ag56	APN	2	87,140,009 (GRCm39)	missense	probably damaging	1.00
IGL03077:Or10ag56	APN	2	87,140,056 (GRCm39)	makesense	probably null
R0411:Or10ag56	UTSW	2	87,139,402 (GRCm39)	missense	probably benign	0.07
R0525:Or10ag56	UTSW	2	87,139,693 (GRCm39)	missense	probably benign	0.10
R1703:Or10ag56	UTSW	2	87,139,754 (GRCm39)	missense	probably benign	0.00
R1750:Or10ag56	UTSW	2	87,139,196 (GRCm39)	missense	probably benign	0.02
R2005:Or10ag56	UTSW	2	87,139,792 (GRCm39)	missense	probably benign	0.24
R3846:Or10ag56	UTSW	2	87,139,526 (GRCm39)	missense	probably benign	0.15
R4011:Or10ag56	UTSW	2	87,139,555 (GRCm39)	missense	probably benign	0.03
R4077:Or10ag56	UTSW	2	87,139,208 (GRCm39)	splice site	probably null	0.42
R5132:Or10ag56	UTSW	2	87,139,282 (GRCm39)	missense	probably damaging	1.00
R5368:Or10ag56	UTSW	2	87,139,126 (GRCm39)	splice site	probably null
R7355:Or10ag56	UTSW	2	87,139,754 (GRCm39)	missense	probably benign	0.00
R7405:Or10ag56	UTSW	2	87,139,339 (GRCm39)	missense	probably benign	0.00
R7437:Or10ag56	UTSW	2	87,139,687 (GRCm39)	missense	probably benign
R7554:Or10ag56	UTSW	2	87,139,349 (GRCm39)	missense	probably damaging	1.00
R7609:Or10ag56	UTSW	2	87,139,853 (GRCm39)	missense	probably benign	0.01
R8156:Or10ag56	UTSW	2	87,139,318 (GRCm39)	missense	probably damaging	0.97
R8482:Or10ag56	UTSW	2	87,139,726 (GRCm39)	missense	probably benign	0.07
R8558:Or10ag56	UTSW	2	87,139,583 (GRCm39)	missense	probably benign	0.11
R9136:Or10ag56	UTSW	2	87,139,219 (GRCm39)	missense	possibly damaging	0.95
R9229:Or10ag56	UTSW	2	87,139,165 (GRCm39)	missense	probably benign	0.00
R9326:Or10ag56	UTSW	2	87,139,730 (GRCm39)	missense	probably benign	0.37
RF010:Or10ag56	UTSW	2	87,139,184 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TTCCTGTACAAATTGGGCAGAC -3'
(R):5'- TTCAAAGCTGGGATCAAAATGG -3'

Sequencing Primer
(F):5'- TTGGGCAGACCTACCAGATATTC -3'
(R):5'- GTGTAGAAAAGAGATAGCAGCTTCCC -3'

Posted On

2014-09-18