Mutagenetix > Incidental Mutation

Incidental Mutation 'R4562:Or10g9b'

343150

Institutional Source

Beutler Lab

Gene Symbol

Or10g9b

Ensembl Gene

ENSMUSG00000060254

Gene Name

olfactory receptor family 10 subfamily G member 9B

Synonyms

MOR223-2, GA_x6K02T2PVTD-33705428-33704496, Olfr980

MMRRC Submission

041787-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4562 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39917290-39918325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39917577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 223 (S223P)

Ref Sequence

ENSEMBL: ENSMUSP00000150496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073932] [ENSMUST00000215523] [ENSMUST00000216463]

AlphaFold

Q8VH08

Predicted Effect

probably damaging
Transcript: ENSMUST00000073932
AA Change: S223P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091386
Gene: ENSMUSG00000060254
AA Change: S223P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.4e-55	PFAM
Pfam:7tm_1	39	287	5.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215523

Predicted Effect

probably damaging
Transcript: ENSMUST00000216463
AA Change: S223P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6546

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	A	3: 36,120,331 (GRCm39)	R25K	probably benign	Het
Acap1	C	T	11: 69,776,177 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,098,215 (GRCm39)	L309P	probably damaging	Het
Asap2	A	G	12: 21,162,094 (GRCm39)	D17G	probably damaging	Het
Atp8b1	A	T	18: 64,689,962 (GRCm39)	V590D	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Cad	G	A	5: 31,215,477 (GRCm39)	S96N	possibly damaging	Het
Csmd3	T	C	15: 47,763,240 (GRCm39)	T1303A	probably benign	Het
Defa24	A	G	8: 22,224,523 (GRCm39)		probably benign	Het
Dffb	A	G	4: 154,049,913 (GRCm39)	C317R	probably damaging	Het
Erap1	T	C	13: 74,821,778 (GRCm39)	V711A	probably benign	Het
Esco1	A	G	18: 10,595,074 (GRCm39)	S71P	possibly damaging	Het
Evpl	G	A	11: 116,124,225 (GRCm39)	T198M	possibly damaging	Het
Gm10797	A	G	10: 67,408,515 (GRCm39)		noncoding transcript	Het
Gm10822	C	T	2: 73,729,833 (GRCm39)		noncoding transcript	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Ift22	A	G	5: 136,941,724 (GRCm39)	E152G	probably benign	Het
Ighv3-5	T	A	12: 114,226,498 (GRCm39)	T25S	possibly damaging	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,479,262 (GRCm39)		probably benign	Het
Kcna5	T	C	6: 126,511,303 (GRCm39)	H275R	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Klf14	G	A	6: 30,935,394 (GRCm39)	A80V	probably damaging	Het
Lrrc71	T	A	3: 87,652,715 (GRCm39)		probably benign	Het
Lypd8	T	A	11: 58,273,215 (GRCm39)		probably null	Het
Mef2b	G	A	8: 70,619,918 (GRCm39)	D345N	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr10	C	T	7: 63,963,907 (GRCm39)	T214M	possibly damaging	Het
Or13g1	A	G	7: 85,956,360 (GRCm39)		probably benign	Het
Or4f4b	A	T	2: 111,313,909 (GRCm39)	M45L	probably benign	Het
Orc1	T	C	4: 108,459,252 (GRCm39)		probably null	Het
P4htm	T	C	9: 108,459,195 (GRCm39)	S246G	probably null	Het
Pax2	A	G	19: 44,824,402 (GRCm39)	Y374C	unknown	Het
Pde6b	A	G	5: 108,551,234 (GRCm39)	K173E	probably benign	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Plekhh2	A	G	17: 84,873,525 (GRCm39)	D270G	probably benign	Het
Prr5	A	C	15: 84,626,114 (GRCm39)	D63A	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Ryr1	C	A	7: 28,774,005 (GRCm39)		probably benign	Het
Slc4a1ap	G	A	5: 31,689,373 (GRCm39)	V347M	probably damaging	Het
Tasor	A	G	14: 27,188,265 (GRCm39)	T904A	possibly damaging	Het
Tln1	C	A	4: 43,533,598 (GRCm39)	A2319S	probably damaging	Het
Tm6sf1	G	A	7: 81,509,209 (GRCm39)	A5T	probably damaging	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Tnfrsf22	C	T	7: 143,203,313 (GRCm39)	R19Q	unknown	Het
Tnfsf11	T	C	14: 78,516,020 (GRCm39)	D316G	probably damaging	Het
Trerf1	G	A	17: 47,637,997 (GRCm39)		noncoding transcript	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Unc79	C	T	12: 102,957,720 (GRCm39)	T45I	probably damaging	Het
Usp3	G	T	9: 66,428,047 (GRCm39)		probably benign	Het
Vmn2r-ps158	C	T	7: 42,672,986 (GRCm39)	Q130*	probably null	Het
Wdr31	A	C	4: 62,372,159 (GRCm39)	L319W	probably damaging	Het
Zfp947	G	T	17: 22,365,124 (GRCm39)	Y183*	probably null	Het

Other mutations in Or10g9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02256:Or10g9b	APN	9	39,917,349 (GRCm39)	missense	probably benign
IGL02378:Or10g9b	APN	9	39,917,769 (GRCm39)	missense	probably damaging	1.00
IGL03384:Or10g9b	APN	9	39,917,766 (GRCm39)	missense	probably benign
IGL03402:Or10g9b	APN	9	39,917,802 (GRCm39)	missense	probably benign	0.31
BB010:Or10g9b	UTSW	9	39,918,431 (GRCm39)	start gained	probably benign
PIT4651001:Or10g9b	UTSW	9	39,917,526 (GRCm39)	missense	probably damaging	0.97
R0013:Or10g9b	UTSW	9	39,917,651 (GRCm39)	missense	probably damaging	1.00
R1146:Or10g9b	UTSW	9	39,917,390 (GRCm39)	missense	possibly damaging	0.95
R1146:Or10g9b	UTSW	9	39,917,390 (GRCm39)	missense	possibly damaging	0.95
R4541:Or10g9b	UTSW	9	39,917,589 (GRCm39)	missense	possibly damaging	0.95
R4731:Or10g9b	UTSW	9	39,917,564 (GRCm39)	missense	probably damaging	1.00
R4732:Or10g9b	UTSW	9	39,917,564 (GRCm39)	missense	probably damaging	1.00
R4733:Or10g9b	UTSW	9	39,917,564 (GRCm39)	missense	probably damaging	1.00
R4825:Or10g9b	UTSW	9	39,918,038 (GRCm39)	missense	possibly damaging	0.72
R5619:Or10g9b	UTSW	9	39,918,039 (GRCm39)	missense	probably benign	0.07
R5770:Or10g9b	UTSW	9	39,917,634 (GRCm39)	missense	probably benign	0.01
R5791:Or10g9b	UTSW	9	39,918,030 (GRCm39)	missense	probably damaging	1.00
R6813:Or10g9b	UTSW	9	39,917,753 (GRCm39)	missense	probably benign
R6819:Or10g9b	UTSW	9	39,917,844 (GRCm39)	missense	probably benign	0.00
R6970:Or10g9b	UTSW	9	39,918,009 (GRCm39)	missense	probably benign	0.00
R7490:Or10g9b	UTSW	9	39,917,720 (GRCm39)	missense	probably damaging	1.00
R7511:Or10g9b	UTSW	9	39,918,229 (GRCm39)	missense	possibly damaging	0.63
R7933:Or10g9b	UTSW	9	39,918,431 (GRCm39)	start gained	probably benign
R8243:Or10g9b	UTSW	9	39,917,484 (GRCm39)	missense	probably benign	0.19
Z1088:Or10g9b	UTSW	9	39,917,892 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGGGTGTACACAACAGGG -3'
(R):5'- CTCTGCTGTCCAGACTACAC -3'

Sequencing Primer
(F):5'- TTGAGTAGGGGTGTCAACAC -3'
(R):5'- GCTGTCCAGACTACACTGATTTTTC -3'

Posted On

2015-09-24