Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Or10a3b'

485020

Institutional Source

Beutler Lab

Gene Symbol

Or10a3b

Ensembl Gene

ENSMUSG00000062434

Gene Name

olfactory receptor family 10 subfamily A member 3B

Synonyms

GA_x6K02T2PBJ9-11176324-11175380, MOR268-2, Olfr516

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108844788-108850529 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108845386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 208 (M208K)

Ref Sequence

ENSEMBL: ENSMUSP00000150359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071410] [ENSMUST00000216092] [ENSMUST00000217279]

AlphaFold

Q8VFZ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071410
AA Change: M208K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071358
Gene: ENSMUSG00000062434
AA Change: M208K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.2e-60	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.9e-5	PFAM
Pfam:7tm_1	41	290	9.2e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208389

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216092
AA Change: M208K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217279
AA Change: M208K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.6545

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803 (GRCm38)	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297 (GRCm38)	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159 (GRCm38)	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051 (GRCm38)	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744 (GRCm38)	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213 (GRCm38)	T11S	unknown	Het
Blm	T	C	7: 80,513,487 (GRCm38)	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971 (GRCm38)	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140 (GRCm38)	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201 (GRCm38)	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330 (GRCm38)	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953 (GRCm38)	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710 (GRCm38)	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753 (GRCm38)	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801 (GRCm38)	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306 (GRCm38)	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374 (GRCm38)	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876 (GRCm38)	K294*	probably null	Het
Hoxd9	A	G	2: 74,699,365 (GRCm38)	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387 (GRCm38)	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759 (GRCm38)	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035 (GRCm38)	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692 (GRCm38)	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676 (GRCm38)	N120S	probably damaging	Het
Lrrc37	T	A	11: 103,617,791 (GRCm38)		probably benign	Het
Lrrk2	A	G	15: 91,747,826 (GRCm38)	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360 (GRCm38)	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836 (GRCm38)	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290 (GRCm38)	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816 (GRCm38)	N273Y	possibly damaging	Het
Nrdc	A	T	4: 109,044,585 (GRCm38)	K617M	probably damaging	Het
Or1l8	A	T	2: 36,927,689 (GRCm38)	C142S	possibly damaging	Het
Or6c202	T	A	10: 129,160,333 (GRCm38)	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872 (GRCm38)	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947 (GRCm38)	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112 (GRCm38)		probably null	Het
Pitx2	C	G	3: 129,204,413 (GRCm38)		probably null	Het
Reck	T	A	4: 43,922,895 (GRCm38)	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323 (GRCm38)	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792 (GRCm38)		probably null	Het
Scn8a	A	G	15: 101,040,596 (GRCm38)	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852 (GRCm38)	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092 (GRCm38)	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312 (GRCm38)	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604 (GRCm38)	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262 (GRCm38)		probably benign	Het
Sox8	T	C	17: 25,567,520 (GRCm38)	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985 (GRCm38)		probably null	Het
Svil	T	C	18: 5,108,639 (GRCm38)	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245 (GRCm38)	R1403G	probably benign	Het
Tasor2	G	A	13: 3,590,081 (GRCm38)	T352M	probably damaging	Het
Tcf25	A	T	8: 123,384,375 (GRCm38)	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640 (GRCm38)	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868 (GRCm38)	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669 (GRCm38)	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364 (GRCm38)	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829 (GRCm38)	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325 (GRCm38)	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376 (GRCm38)	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605 (GRCm38)	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691 (GRCm38)	I988F	probably damaging	Het
Zbtb47	T	A	9: 121,765,595 (GRCm38)	F540Y	probably damaging	Het
Zfp536	A	T	7: 37,479,736 (GRCm38)	I84N	probably damaging	Het

Other mutations in Or10a3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Or10a3b	APN	7	108,845,680 (GRCm38)	missense	probably damaging	0.99
R0583:Or10a3b	UTSW	7	108,845,414 (GRCm38)	missense	possibly damaging	0.87
R0939:Or10a3b	UTSW	7	108,845,233 (GRCm38)	missense	probably damaging	1.00
R1037:Or10a3b	UTSW	7	108,845,984 (GRCm38)	missense	probably benign	0.04
R1631:Or10a3b	UTSW	7	108,845,857 (GRCm38)	missense	probably damaging	1.00
R1691:Or10a3b	UTSW	7	108,845,141 (GRCm38)	missense	possibly damaging	0.60
R5153:Or10a3b	UTSW	7	108,845,699 (GRCm38)	missense	probably benign	0.03
R6305:Or10a3b	UTSW	7	108,845,554 (GRCm38)	missense	possibly damaging	0.87
R6808:Or10a3b	UTSW	7	108,845,540 (GRCm38)	missense	probably benign	0.01
R6896:Or10a3b	UTSW	7	108,845,543 (GRCm38)	missense	probably benign
R7544:Or10a3b	UTSW	7	108,845,321 (GRCm38)	missense	probably benign	0.39
R8998:Or10a3b	UTSW	7	108,845,810 (GRCm38)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AGAAGTGTGTATGCCAGTGAC -3'
(R):5'- CATGGGTCTCAGGTACCATG -3'

Sequencing Primer
(F):5'- GTATGCCAGTGACATCAGTTTC -3'
(R):5'- GGTCTCAGGTACCATGATGACTAC -3'

Posted On

2017-08-16