Mutagenetix > Incidental Mutation

Incidental Mutation 'R2235:Or10a3'

240396

Institutional Source

Beutler Lab

Gene Symbol

Or10a3

Ensembl Gene

ENSMUSG00000046431

Gene Name

olfactory receptor family 10 subfamily A member 3

Synonyms

Olfr518, MOR268-5, GA_x6K02T2PBJ9-11211854-11210853

MMRRC Submission

040236-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R2235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108479810-108480811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108480172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 214 (F214L)

Ref Sequence

ENSEMBL: ENSMUSP00000151883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059617] [ENSMUST00000217803]

AlphaFold

Q8VEW1

Predicted Effect

probably benign
Transcript: ENSMUST00000059617
AA Change: F214L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000050503
Gene: ENSMUSG00000046431
AA Change: F214L

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:7tm_4	50	327	7.1e-60	PFAM
Pfam:7tm_1	60	318	1.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217803
AA Change: F214L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,619,023 (GRCm39)	V256A	probably benign	Het
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adcy2	A	T	13: 68,816,611 (GRCm39)	Y792N	probably damaging	Het
Alpk1	T	C	3: 127,474,569 (GRCm39)	K478R	probably benign	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Bach1	A	G	16: 87,517,001 (GRCm39)	D514G	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cldn34b3	A	T	X: 75,310,830 (GRCm39)	I133F	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Cts6	T	A	13: 61,343,247 (GRCm39)	I325F	probably damaging	Het
Dnah6	T	C	6: 73,077,068 (GRCm39)	D2347G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Fhip1a	A	T	3: 85,568,408 (GRCm39)	L1037Q	probably damaging	Het
Fndc11	A	G	2: 180,864,067 (GRCm39)	S291G	possibly damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Ly6h	A	G	15: 75,437,038 (GRCm39)	S113P	probably benign	Het
Mto1	A	C	9: 78,364,846 (GRCm39)	T362P	possibly damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Pld3	G	A	7: 27,240,532 (GRCm39)	T136M	probably benign	Het
Prph2	A	T	17: 47,222,092 (GRCm39)	D157V	probably damaging	Het
Racgap1	A	G	15: 99,524,417 (GRCm39)	S357P	probably benign	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc4a11	T	C	2: 130,527,544 (GRCm39)	E617G	probably benign	Het
Smap1	T	C	1: 23,898,139 (GRCm39)	N99S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Sox4	C	T	13: 29,136,613 (GRCm39)	R131Q	probably damaging	Het
Spaca6	T	C	17: 18,058,507 (GRCm39)		probably null	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tpr	T	A	1: 150,317,843 (GRCm39)	F2117Y	probably benign	Het
Traf5	T	C	1: 191,738,806 (GRCm39)	M125V	probably damaging	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Ubp1	T	G	9: 113,793,712 (GRCm39)	S340R	probably damaging	Het
Vit	T	C	17: 78,912,867 (GRCm39)	S267P	probably benign	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Zfp990	T	A	4: 145,264,461 (GRCm39)	H486Q	probably damaging	Het
Zkscan6	T	C	11: 65,719,098 (GRCm39)	S373P	probably benign	Het

Other mutations in Or10a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02713:Or10a3	APN	7	108,480,060 (GRCm39)	missense	probably damaging	0.99
IGL02995:Or10a3	APN	7	108,480,198 (GRCm39)	missense	probably damaging	1.00
IGL03162:Or10a3	APN	7	108,480,811 (GRCm39)	start codon destroyed	probably null
IGL03389:Or10a3	APN	7	108,479,982 (GRCm39)	missense	probably damaging	0.99
R0731:Or10a3	UTSW	7	108,480,740 (GRCm39)	missense	probably damaging	1.00
R1669:Or10a3	UTSW	7	108,479,920 (GRCm39)	missense	probably benign	0.00
R4740:Or10a3	UTSW	7	108,480,689 (GRCm39)	missense	probably benign	0.05
R4902:Or10a3	UTSW	7	108,480,624 (GRCm39)	missense	probably benign	0.00
R5343:Or10a3	UTSW	7	108,480,205 (GRCm39)	missense	possibly damaging	0.87
R6744:Or10a3	UTSW	7	108,480,037 (GRCm39)	missense	probably damaging	0.99
R7157:Or10a3	UTSW	7	108,480,475 (GRCm39)	missense	probably benign	0.03
R7326:Or10a3	UTSW	7	108,480,023 (GRCm39)	missense	probably damaging	1.00
R7713:Or10a3	UTSW	7	108,479,889 (GRCm39)	missense	probably damaging	1.00
R7819:Or10a3	UTSW	7	108,480,610 (GRCm39)	missense	probably damaging	0.99
R7939:Or10a3	UTSW	7	108,480,481 (GRCm39)	missense	probably benign	0.05
R8057:Or10a3	UTSW	7	108,480,571 (GRCm39)	missense	probably damaging	1.00
R8096:Or10a3	UTSW	7	108,480,248 (GRCm39)	nonsense	probably null
R8472:Or10a3	UTSW	7	108,479,973 (GRCm39)	missense	possibly damaging	0.95
R8766:Or10a3	UTSW	7	108,480,453 (GRCm39)	missense	probably benign	0.05
R9283:Or10a3	UTSW	7	108,480,289 (GRCm39)	missense	probably benign	0.03
R9570:Or10a3	UTSW	7	108,480,504 (GRCm39)	missense	possibly damaging	0.95
R9763:Or10a3	UTSW	7	108,480,874 (GRCm39)	start gained	probably benign
X0066:Or10a3	UTSW	7	108,480,679 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGTGCCATAGAAGAGGGTG -3'
(R):5'- CCGATTTGCTGCAATCTGCC -3'

Sequencing Primer
(F):5'- TGCCATAGAAGAGGGTGACAGAG -3'
(R):5'- CCCTATGATTATGAACAAAAGGGTC -3'

Posted On

2014-10-15