Mutagenetix > Incidental Mutation

Incidental Mutation 'R0831:Or13c3'

77525

Institutional Source

Beutler Lab

Gene Symbol

Or13c3

Ensembl Gene

ENSMUSG00000049648

Gene Name

olfactory receptor family 13 subfamily C member 3

Synonyms

Olfr273, GA_x6K02T2N78B-7137430-7138383, MOR262-8

MMRRC Submission

039010-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52855558-52856511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 52855764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 250 (I250L)

Ref Sequence

ENSEMBL: ENSMUSP00000149869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051520] [ENSMUST00000107670] [ENSMUST00000215274]

AlphaFold

Q8VG87

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051520
AA Change: I250L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052080
Gene: ENSMUSG00000049648
AA Change: I250L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	314	1.3e-55	PFAM
Pfam:7tm_1	41	296	1.4e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107670
AA Change: I250L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103297
Gene: ENSMUSG00000049648
AA Change: I250L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	296	3.2e-37	PFAM
Pfam:7tm_4	139	289	4e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215274
AA Change: I250L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1172

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.0%

Validation Efficiency

95% (82/86)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	C	T	7: 12,284,523 (GRCm39)		probably benign	Het
3425401B19Rik	T	C	14: 32,384,228 (GRCm39)	N579S	probably benign	Het
Adck1	G	T	12: 88,335,118 (GRCm39)	M1I	probably null	Het
Adgra3	A	T	5: 50,128,144 (GRCm39)	I779N	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Afg3l2	A	C	18: 67,554,297 (GRCm39)	F468L	probably damaging	Het
Alms1	T	A	6: 85,605,502 (GRCm39)	I2384N	probably benign	Het
Ankrd13b	A	T	11: 77,363,585 (GRCm39)	S244R	probably damaging	Het
Aox1	T	A	1: 58,378,842 (GRCm39)	H1030Q	probably benign	Het
Ap1b1	A	G	11: 4,973,092 (GRCm39)		probably benign	Het
Atxn2l	A	G	7: 126,098,332 (GRCm39)	S187P	probably damaging	Het
B4galt4	G	T	16: 38,588,341 (GRCm39)	E57D	probably benign	Het
Cad	T	C	5: 31,224,944 (GRCm39)	V949A	probably damaging	Het
Cadps2	C	T	6: 23,321,739 (GRCm39)	S1051N	possibly damaging	Het
Ccdc66	C	T	14: 27,219,313 (GRCm39)	V148I	probably benign	Het
Ccser1	C	T	6: 61,400,045 (GRCm39)	P55S	probably damaging	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Cep95	A	G	11: 106,705,530 (GRCm39)	D548G	probably benign	Het
Chil3	A	G	3: 106,057,063 (GRCm39)	Y294H	probably benign	Het
Chmp5	A	G	4: 40,949,500 (GRCm39)	D39G	probably damaging	Het
Chrd	T	A	16: 20,560,059 (GRCm39)	F887I	probably damaging	Het
Col24a1	G	T	3: 145,034,520 (GRCm39)	G580V	probably damaging	Het
Col6a2	A	T	10: 76,439,939 (GRCm39)	N655K	probably damaging	Het
Ctsf	A	T	19: 4,909,868 (GRCm39)	Y416F	possibly damaging	Het
Dennd5a	A	C	7: 109,533,961 (GRCm39)	V77G	probably damaging	Het
Dna2	A	T	10: 62,795,108 (GRCm39)	K460*	probably null	Het
Dnah17	A	T	11: 117,951,097 (GRCm39)	M2842K	probably damaging	Het
Dnajc13	C	A	9: 104,049,811 (GRCm39)	G1765V	probably damaging	Het
Donson	A	C	16: 91,480,651 (GRCm39)	C243W	probably damaging	Het
Dpp8	A	T	9: 64,985,961 (GRCm39)	N817I	possibly damaging	Het
Eef1d	G	A	15: 75,768,655 (GRCm39)		probably benign	Het
Esf1	T	A	2: 140,010,279 (GRCm39)	D19V	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gm9867	C	A	4: 140,049,799 (GRCm39)	A128S	unknown	Het
Igsf23	G	T	7: 19,675,662 (GRCm39)		probably benign	Het
Inhca	T	C	9: 103,146,978 (GRCm39)	H292R	possibly damaging	Het
Kdm7a	C	A	6: 39,143,699 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,453,609 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,537,990 (GRCm39)	N1229D	possibly damaging	Het
Mrps11	C	A	7: 78,441,611 (GRCm39)		probably benign	Het
Mtmr2	T	A	9: 13,707,409 (GRCm39)	D248E	probably damaging	Het
Myrfl	C	A	10: 116,619,114 (GRCm39)	S748I	probably benign	Het
Nop14	T	C	5: 34,807,864 (GRCm39)	E366G	possibly damaging	Het
Or2w25	C	T	11: 59,504,480 (GRCm39)	T230I	possibly damaging	Het
Or52z13	A	G	7: 103,247,338 (GRCm39)	I272V	probably benign	Het
Or7e177	T	A	9: 20,211,861 (GRCm39)	C123S	probably benign	Het
Or8g2b	C	T	9: 39,751,579 (GRCm39)	P283L	probably damaging	Het
Phykpl	G	T	11: 51,476,366 (GRCm39)	E29*	probably null	Het
Plppr4	A	G	3: 117,125,295 (GRCm39)		probably null	Het
Prmt2	A	C	10: 76,043,641 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,193,649 (GRCm39)	Y114*	probably null	Het
Prr23a2	C	A	9: 98,738,917 (GRCm39)	H92N	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rdx	C	A	9: 51,977,117 (GRCm39)	A122E	probably damaging	Het
Rspo3	T	G	10: 29,330,253 (GRCm39)	D236A	unknown	Het
Sdk2	A	T	11: 113,723,084 (GRCm39)	D1302E	probably damaging	Het
Sipa1	A	T	19: 5,710,382 (GRCm39)	D209E	probably damaging	Het
Sirpa	T	G	2: 129,469,856 (GRCm39)		probably benign	Het
Ska1	A	C	18: 74,330,570 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,668,331 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,631,172 (GRCm39)	V602A	probably benign	Het
Slco2a1	T	C	9: 102,959,533 (GRCm39)	V543A	probably damaging	Het
Sorcs3	A	T	19: 48,682,433 (GRCm39)	L489F	probably damaging	Het
Sorl1	T	C	9: 41,982,365 (GRCm39)		probably benign	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Spindoc	G	T	19: 7,352,100 (GRCm39)	N82K	probably benign	Het
Stk17b	C	A	1: 53,796,651 (GRCm39)	C372F	probably damaging	Het
Tbck	A	G	3: 132,428,052 (GRCm39)		probably benign	Het
Thoc1	C	T	18: 9,963,267 (GRCm39)	T127I	probably benign	Het
Togaram2	G	T	17: 72,023,439 (GRCm39)	R765L	probably damaging	Het
Tprg1	A	G	16: 25,136,219 (GRCm39)	Y70C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	T	C	17: 31,215,325 (GRCm39)	Y1050H	probably damaging	Het
Vmn1r205	T	A	13: 22,776,586 (GRCm39)	D172V	probably benign	Het
Vmn1r79	A	T	7: 11,910,990 (GRCm39)	N291Y	probably damaging	Het
Vmn2r112	T	A	17: 22,833,980 (GRCm39)	N549K	probably damaging	Het
Vrk3	T	A	7: 44,414,227 (GRCm39)	L241Q	probably damaging	Het
Zc3h7a	A	G	16: 10,969,744 (GRCm39)	S386P	probably damaging	Het

Other mutations in Or13c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Or13c3	APN	4	52,856,144 (GRCm39)	missense	probably damaging	1.00
R0048:Or13c3	UTSW	4	52,856,196 (GRCm39)	missense	probably damaging	1.00
R0048:Or13c3	UTSW	4	52,856,196 (GRCm39)	missense	probably damaging	1.00
R0826:Or13c3	UTSW	4	52,855,566 (GRCm39)	missense	probably benign
R1772:Or13c3	UTSW	4	52,855,730 (GRCm39)	missense	probably benign	0.30
R1774:Or13c3	UTSW	4	52,855,674 (GRCm39)	missense	probably benign	0.01
R1861:Or13c3	UTSW	4	52,856,373 (GRCm39)	missense	probably benign	0.00
R2080:Or13c3	UTSW	4	52,855,568 (GRCm39)	missense	probably benign	0.20
R2242:Or13c3	UTSW	4	52,855,769 (GRCm39)	missense	probably damaging	1.00
R3777:Or13c3	UTSW	4	52,855,636 (GRCm39)	missense	probably damaging	1.00
R4492:Or13c3	UTSW	4	52,855,764 (GRCm39)	missense	probably benign	0.01
R4748:Or13c3	UTSW	4	52,856,076 (GRCm39)	missense	possibly damaging	0.95
R4880:Or13c3	UTSW	4	52,856,411 (GRCm39)	missense	probably damaging	1.00
R4905:Or13c3	UTSW	4	52,855,613 (GRCm39)	missense	probably damaging	0.99
R5856:Or13c3	UTSW	4	52,856,516 (GRCm39)	start gained	probably benign
R6585:Or13c3	UTSW	4	52,856,192 (GRCm39)	missense	possibly damaging	0.84
R6862:Or13c3	UTSW	4	52,855,695 (GRCm39)	missense	probably benign
R7378:Or13c3	UTSW	4	52,856,421 (GRCm39)	missense	probably benign
R7649:Or13c3	UTSW	4	52,855,692 (GRCm39)	nonsense	probably null
R8793:Or13c3	UTSW	4	52,856,490 (GRCm39)	missense	probably benign
R9169:Or13c3	UTSW	4	52,856,052 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AACCTGTGTTTGCTGATGTCTCTAAGG -3'
(R):5'- TCATGGTTCTCTGGCAGCATCAATTC -3'

Sequencing Primer
(F):5'- GATGTCTCTAAGGAACGTACTTTTG -3'
(R):5'- GAGGTCTTAGCTGTCCTCAAGC -3'

Posted On

2013-10-16