Mutagenetix > Incidental Mutation

Incidental Mutation 'R6196:Or10d1'

502922

Institutional Source

Beutler Lab

Gene Symbol

Or10d1

Ensembl Gene

ENSMUSG00000059366

Gene Name

olfactory receptor family 10 subfamily D member 1

Synonyms

MOR224-3, GA_x6K02T2PVTD-33270211-33269276, Olfr959

MMRRC Submission

044336-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39483618-39484553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39483776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 260 (P260S)

Ref Sequence

ENSEMBL: ENSMUSP00000150349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079178] [ENSMUST00000215194] [ENSMUST00000216298]

AlphaFold

Q9EQ86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079178
AA Change: P260S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078176
Gene: ENSMUSG00000059366
AA Change: P260S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.3e-49	PFAM
Pfam:7TM_GPCR_Srsx	33	251	1.2e-7	PFAM
Pfam:7tm_1	39	286	2.7e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215194
AA Change: P260S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216298
AA Change: P260S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (55/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,436,554 (GRCm39)	H241L	possibly damaging	Het
Acap1	T	C	11: 69,777,893 (GRCm39)	D115G	probably damaging	Het
Acvr2b	T	C	9: 119,262,469 (GRCm39)	V510A	possibly damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Agr2	A	T	12: 36,045,591 (GRCm39)	K26*	probably null	Het
Aox4	T	A	1: 58,256,685 (GRCm39)	I69N	probably damaging	Het
Asb4	G	A	6: 5,390,699 (GRCm39)	G31R	probably benign	Het
Atp6v1c2	C	A	12: 17,351,187 (GRCm39)	E105*	probably null	Het
Bend6	A	G	1: 33,917,509 (GRCm39)	Y44H	probably damaging	Het
Bltp3b	T	G	10: 89,641,195 (GRCm39)	S789A	probably benign	Het
Btn2a2	C	T	13: 23,672,015 (GRCm39)	V25M	possibly damaging	Het
Cab39l	T	A	14: 59,737,039 (GRCm39)	L53Q	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Cdc14b	C	T	13: 64,353,338 (GRCm39)		probably benign	Het
Cenpu	A	G	8: 47,015,615 (GRCm39)	R177G	probably benign	Het
Chit1	C	A	1: 134,074,381 (GRCm39)	Y229*	probably null	Het
Crybg2	C	A	4: 133,808,450 (GRCm39)	S1350R	probably damaging	Het
Ctdspl2	A	G	2: 121,809,373 (GRCm39)		probably null	Het
Ctsr	A	T	13: 61,308,345 (GRCm39)	H266Q	probably benign	Het
Dynlt5	A	G	4: 102,849,766 (GRCm39)	E63G	possibly damaging	Het
Efcab3	T	G	11: 104,746,386 (GRCm39)	I2279S	probably benign	Het
Extl3	T	A	14: 65,313,584 (GRCm39)	M533L	probably benign	Het
Fam162b	C	A	10: 51,463,506 (GRCm39)		probably null	Het
Fbxo28	T	C	1: 182,157,454 (GRCm39)	K121R	probably damaging	Het
Fsip2	A	C	2: 82,820,227 (GRCm39)	E5320A	possibly damaging	Het
Galc	A	T	12: 98,225,421 (GRCm39)	D56E	probably damaging	Het
Gm5468	A	G	15: 25,414,481 (GRCm39)		probably benign	Het
Hk1	T	A	10: 62,135,038 (GRCm39)	H24L	probably damaging	Het
Igkv5-43	A	G	6: 69,752,965 (GRCm39)	V39A	possibly damaging	Het
Lemd2	G	A	17: 27,411,976 (GRCm39)	Q439*	probably null	Het
Lgi1	A	G	19: 38,294,257 (GRCm39)	N295S	probably benign	Het
Macc1	T	G	12: 119,409,785 (GRCm39)	S184R	probably damaging	Het
Msmo1	A	G	8: 65,180,918 (GRCm39)		probably benign	Het
Muc5b	C	A	7: 141,405,333 (GRCm39)	R914S	unknown	Het
Or1e16	G	A	11: 73,286,299 (GRCm39)	A183V	probably benign	Het
Or1e17	G	A	11: 73,831,635 (GRCm39)	A188T	possibly damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Or5b110-ps1	A	G	19: 13,260,290 (GRCm39)	I44T	probably benign	Het
Plekha5	T	C	6: 140,525,179 (GRCm39)	S14P	probably benign	Het
Pus10	A	G	11: 23,622,638 (GRCm39)	K86R	probably benign	Het
Rab37	T	C	11: 115,051,132 (GRCm39)	V147A	probably benign	Het
Sin3a	T	A	9: 57,011,213 (GRCm39)	I490N	probably damaging	Het
Slc27a4	A	G	2: 29,695,762 (GRCm39)	D99G	probably benign	Het
Slc43a2	C	T	11: 75,459,206 (GRCm39)	R413*	probably null	Het
Syna	G	T	5: 134,588,466 (GRCm39)	T161N	probably benign	Het
T	A	G	17: 8,655,996 (GRCm39)	D86G	possibly damaging	Het
Tanc1	G	A	2: 59,674,366 (GRCm39)	E1817K	possibly damaging	Het
Tap2	C	A	17: 34,433,384 (GRCm39)	Q516K	possibly damaging	Het
Tcaf1	A	T	6: 42,653,741 (GRCm39)	D717E	probably damaging	Het
Tcf20	G	T	15: 82,736,187 (GRCm39)	Q1755K	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trpm7	G	A	2: 126,667,559 (GRCm39)	P811S	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,679 (GRCm39)	V712A	probably benign	Het
Vwc2l	T	A	1: 70,768,180 (GRCm39)	D34E	probably damaging	Het
Wdr35	A	G	12: 9,077,632 (GRCm39)	K1091E	probably benign	Het

Other mutations in Or10d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02825:Or10d1	APN	9	39,483,877 (GRCm39)	missense	probably damaging	0.97
R0122:Or10d1	UTSW	9	39,484,020 (GRCm39)	missense	probably damaging	1.00
R0483:Or10d1	UTSW	9	39,484,139 (GRCm39)	missense	probably damaging	1.00
R1843:Or10d1	UTSW	9	39,484,031 (GRCm39)	missense	possibly damaging	0.74
R2038:Or10d1	UTSW	9	39,484,283 (GRCm39)	missense	probably damaging	1.00
R3838:Or10d1	UTSW	9	39,484,267 (GRCm39)	missense	probably benign
R4801:Or10d1	UTSW	9	39,484,154 (GRCm39)	missense	probably benign	0.00
R4802:Or10d1	UTSW	9	39,484,154 (GRCm39)	missense	probably benign	0.00
R4839:Or10d1	UTSW	9	39,484,441 (GRCm39)	missense	probably benign
R4967:Or10d1	UTSW	9	39,484,054 (GRCm39)	missense	probably damaging	1.00
R6128:Or10d1	UTSW	9	39,484,549 (GRCm39)	missense	probably benign	0.00
R6551:Or10d1	UTSW	9	39,483,856 (GRCm39)	missense	probably benign	0.00
R7757:Or10d1	UTSW	9	39,483,761 (GRCm39)	missense	probably benign	0.02
R7892:Or10d1	UTSW	9	39,483,845 (GRCm39)	missense	possibly damaging	0.96
R8674:Or10d1	UTSW	9	39,484,249 (GRCm39)	missense	probably damaging	1.00
R8693:Or10d1	UTSW	9	39,483,800 (GRCm39)	missense	probably damaging	1.00
R8958:Or10d1	UTSW	9	39,484,091 (GRCm39)	missense	probably benign	0.00
R9101:Or10d1	UTSW	9	39,483,805 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGGTCATTCATTACAACTGCTC -3'
(R):5'- GCTAAAACTGGCTTGTGCAGAC -3'

Sequencing Primer
(F):5'- GGTCATTCATTACAACTGCTCAGGAG -3'
(R):5'- GACACATCAGCCCTGGAGATG -3'

Posted On

2018-02-27