Mutagenetix > Incidental Mutation

Incidental Mutation 'R0083:Or10q1b'

19785

Institutional Source

Beutler Lab

Gene Symbol

Or10q1b

Ensembl Gene

ENSMUSG00000051156

Gene Name

olfactory receptor family 10 subfamily Q member 1B

Synonyms

MOR266-8, Olfr1491, GA_x6K02T2RE5P-4037809-4038768

MMRRC Submission

038370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0083 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13682193-13683152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13683042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 284 (T284S)

Ref Sequence

ENSEMBL: ENSMUSP00000149884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052737] [ENSMUST00000214007] [ENSMUST00000215493] [ENSMUST00000216366] [ENSMUST00000216377] [ENSMUST00000216622]

AlphaFold

Q8VEZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000052737
AA Change: T284S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057902
Gene: ENSMUSG00000051156
AA Change: T284S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	314	3.3e-52	PFAM
Pfam:7tm_1	45	295	5.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214007
AA Change: T284S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215493
AA Change: T284S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216366
AA Change: T284S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216377
AA Change: T284S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216622
AA Change: T284S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.0%
20x: 83.1%

Validation Efficiency

88% (117/133)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,667,406 (GRCm39)	I266F	unknown	Het
Adam39	T	G	8: 41,278,115 (GRCm39)	F169V	probably damaging	Het
Adcy2	A	T	13: 68,800,054 (GRCm39)	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,726,523 (GRCm39)		probably benign	Het
Ankrd26	G	T	6: 118,500,215 (GRCm39)	H1085Q	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atg4c	C	T	4: 99,109,677 (GRCm39)	H215Y	possibly damaging	Het
Atp6v0d2	G	A	4: 19,880,001 (GRCm39)		probably benign	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
C1qtnf3	G	A	15: 10,975,718 (GRCm39)	V175I	possibly damaging	Het
Cacna1c	A	G	6: 118,602,484 (GRCm39)	M1293T	probably damaging	Het
Ccdc88a	T	A	11: 29,453,463 (GRCm39)	S337T	probably damaging	Het
Cntn4	A	G	6: 106,502,330 (GRCm39)	I362M	possibly damaging	Het
Col22a1	A	T	15: 71,762,346 (GRCm39)	D104E	possibly damaging	Het
Col4a4	T	C	1: 82,484,832 (GRCm39)		probably null	Het
Cul7	C	A	17: 46,966,482 (GRCm39)	R304S	probably benign	Het
Elfn2	A	T	15: 78,557,614 (GRCm39)	L311Q	probably damaging	Het
Esrrb	T	C	12: 86,561,226 (GRCm39)	L320P	probably damaging	Het
Fads2b	A	T	2: 85,324,476 (GRCm39)	F283L	possibly damaging	Het
Fbxw10	A	G	11: 62,767,887 (GRCm39)	T903A	probably benign	Het
Fkbp4	G	A	6: 128,409,370 (GRCm39)		probably benign	Het
Gatad2b	T	A	3: 90,265,250 (GRCm39)	Y576N	probably damaging	Het
Greb1	T	C	12: 16,746,452 (GRCm39)	M1273V	probably benign	Het
Helq	C	A	5: 100,916,234 (GRCm39)	E913*	probably null	Het
Inpp4b	C	A	8: 82,468,091 (GRCm39)	A18E	possibly damaging	Het
Ints13	A	G	6: 146,452,162 (GRCm39)	Y686H	probably benign	Het
Itgb7	C	T	15: 102,131,917 (GRCm39)	R222H	probably damaging	Het
Krt81	A	G	15: 101,361,346 (GRCm39)	I78T	probably damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mctp2	G	T	7: 71,878,264 (GRCm39)	F271L	possibly damaging	Het
Mrto4	C	T	4: 139,075,279 (GRCm39)	V175I	possibly damaging	Het
Myh14	A	G	7: 44,283,943 (GRCm39)	V654A	probably damaging	Het
Neu2	A	G	1: 87,524,984 (GRCm39)	Y323C	probably damaging	Het
Nt5dc1	A	C	10: 34,279,760 (GRCm39)	M94R	probably damaging	Het
Nup210l	A	G	3: 90,096,882 (GRCm39)	T1364A	probably damaging	Het
Obscn	T	C	11: 58,913,200 (GRCm39)	D6939G	probably damaging	Het
Pias4	A	G	10: 81,000,000 (GRCm39)	S18P	probably damaging	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Plk5	G	A	10: 80,192,496 (GRCm39)	G34S	possibly damaging	Het
Ptprj	A	T	2: 90,300,121 (GRCm39)		probably null	Het
Rps6ka2	G	A	17: 7,563,442 (GRCm39)	D617N	probably benign	Het
Sap130	C	A	18: 31,799,382 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,844,694 (GRCm39)	P902S	probably damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc15a2	T	C	16: 36,602,645 (GRCm39)	Y72C	probably damaging	Het
Slc26a6	T	C	9: 108,736,312 (GRCm39)		probably null	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Sppl2c	G	A	11: 104,077,358 (GRCm39)	V53I	probably benign	Het
Sstr1	T	A	12: 58,260,528 (GRCm39)	C384S	possibly damaging	Het
Sulf1	A	G	1: 12,887,641 (GRCm39)	M272V	probably damaging	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,687,550 (GRCm39)		probably benign	Het
Topaz1	A	T	9: 122,604,674 (GRCm39)	I1093L	probably benign	Het
Ttll4	G	T	1: 74,718,928 (GRCm39)	V260L	probably benign	Het
Vmn2r26	A	T	6: 124,030,940 (GRCm39)		probably null	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het
Zfp939	A	T	7: 39,123,534 (GRCm39)		noncoding transcript	Het

Other mutations in Or10q1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or10q1b	APN	19	13,683,096 (GRCm39)	missense	probably benign	0.05
IGL02713:Or10q1b	APN	19	13,682,553 (GRCm39)	missense	possibly damaging	0.78
IGL02822:Or10q1b	APN	19	13,683,019 (GRCm39)	missense	probably benign	0.13
R0108:Or10q1b	UTSW	19	13,683,042 (GRCm39)	missense	probably damaging	0.99
R0271:Or10q1b	UTSW	19	13,682,499 (GRCm39)	missense	probably benign	0.03
R1364:Or10q1b	UTSW	19	13,682,809 (GRCm39)	missense	probably benign	0.11
R1538:Or10q1b	UTSW	19	13,682,860 (GRCm39)	missense	probably damaging	1.00
R1575:Or10q1b	UTSW	19	13,682,889 (GRCm39)	missense	probably benign	0.00
R1579:Or10q1b	UTSW	19	13,682,566 (GRCm39)	missense	probably damaging	1.00
R2179:Or10q1b	UTSW	19	13,682,758 (GRCm39)	missense	probably damaging	0.98
R4393:Or10q1b	UTSW	19	13,682,554 (GRCm39)	missense	possibly damaging	0.50
R5837:Or10q1b	UTSW	19	13,682,324 (GRCm39)	nonsense	probably null
R6001:Or10q1b	UTSW	19	13,682,424 (GRCm39)	missense	probably damaging	0.98
R8064:Or10q1b	UTSW	19	13,682,386 (GRCm39)	missense	probably damaging	1.00
R8132:Or10q1b	UTSW	19	13,682,584 (GRCm39)	missense	probably damaging	1.00
R8294:Or10q1b	UTSW	19	13,683,010 (GRCm39)	missense	probably benign	0.02
R8380:Or10q1b	UTSW	19	13,682,608 (GRCm39)	missense	probably benign	0.11
R9608:Or10q1b	UTSW	19	13,682,868 (GRCm39)	missense	probably damaging	1.00
Z1176:Or10q1b	UTSW	19	13,682,567 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCTGTGGACATTACCTGGAA -3'
(R):5'- AGTTCCTCAGAGCACCTTTGACA -3'

Sequencing Primer
(F):5'- CCACTTTCTTTGTGATGTGC -3'
(R):5'- CTCAGAGCACCTTTGACATC -3'

Posted On

2013-04-11