Mutagenetix > Incidental Mutation

Incidental Mutation 'R0469:Or1j10'

43089

Institutional Source

Beutler Lab

Gene Symbol

Or1j10

Ensembl Gene

ENSMUSG00000068950

Gene Name

olfactory receptor family 1 subfamily J member 10

Synonyms

GA_x6K02T2NLDC-33070879-33071799, Olfr338, MOR136-5

MMRRC Submission

038669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36266790-36267710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36267474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 229 (I229F)

Ref Sequence

ENSEMBL: ENSMUSP00000149146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072114] [ENSMUST00000091006] [ENSMUST00000217511]

AlphaFold

Q8VGK6

Predicted Effect

probably benign
Transcript: ENSMUST00000072114
AA Change: I229F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: I229F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.3e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.8e-8	PFAM
Pfam:7tm_1	41	290	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091006
AA Change: I229F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000088528
Gene: ENSMUSG00000068950
AA Change: I229F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	3.9e-56	PFAM
Pfam:7tm_1	39	288	4.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217511
AA Change: I229F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
B3gntl1	A	T	11: 121,563,851 (GRCm39)	V3D	probably benign	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Cpsf2	T	C	12: 101,955,045 (GRCm39)	V272A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Efr3b	G	T	12: 4,032,058 (GRCm39)	D183E	probably benign	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Golgb1	A	G	16: 36,751,997 (GRCm39)	I3144V	probably benign	Het
Gpr108	T	C	17: 57,542,358 (GRCm39)	D549G	possibly damaging	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,553,218 (GRCm39)	Q135*	probably null	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hs3st2	T	C	7: 121,099,792 (GRCm39)	S213P	probably damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Kctd21	T	C	7: 96,996,748 (GRCm39)	F74L	probably damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Lmtk3	T	A	7: 45,443,536 (GRCm39)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rbp3	A	G	14: 33,684,376 (GRCm39)	K1135R	possibly damaging	Het
Slco2b1	T	A	7: 99,310,743 (GRCm39)	M603L	probably benign	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Sv2b	T	G	7: 74,786,140 (GRCm39)	M427L	probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	T	C	12: 75,900,923 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tm9sf1	A	T	14: 55,878,886 (GRCm39)	F169I	possibly damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpr	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	1: 150,299,418 (GRCm39)		probably null	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Trpm1	G	A	7: 63,873,506 (GRCm39)	G587D	probably damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Vmn2r57	A	T	7: 41,077,216 (GRCm39)	S317T	possibly damaging	Het
Wdr73	G	A	7: 80,547,698 (GRCm39)	Q107*	probably null	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het

Other mutations in Or1j10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or1j10	APN	2	36,266,928 (GRCm39)	missense	probably damaging	0.99
IGL01089:Or1j10	APN	2	36,267,178 (GRCm39)	missense	probably damaging	1.00
IGL01298:Or1j10	APN	2	36,267,460 (GRCm39)	missense	probably benign	0.01
IGL01300:Or1j10	APN	2	36,267,054 (GRCm39)	missense	probably benign	0.13
IGL01632:Or1j10	APN	2	36,267,576 (GRCm39)	missense	probably benign	0.02
IGL02480:Or1j10	APN	2	36,267,504 (GRCm39)	missense	probably damaging	0.98
IGL02519:Or1j10	APN	2	36,267,325 (GRCm39)	missense	possibly damaging	0.84
IGL02658:Or1j10	APN	2	36,267,072 (GRCm39)	missense	probably damaging	0.97
IGL02716:Or1j10	APN	2	36,267,355 (GRCm39)	missense	possibly damaging	0.88
IGL02983:Or1j10	APN	2	36,267,649 (GRCm39)	missense	probably damaging	1.00
IGL03334:Or1j10	APN	2	36,267,063 (GRCm39)	missense	possibly damaging	0.66
IGL03054:Or1j10	UTSW	2	36,266,944 (GRCm39)	missense	possibly damaging	0.65
R1263:Or1j10	UTSW	2	36,267,006 (GRCm39)	missense	probably damaging	0.99
R1500:Or1j10	UTSW	2	36,267,633 (GRCm39)	missense	probably benign	0.04
R2444:Or1j10	UTSW	2	36,267,625 (GRCm39)	missense	possibly damaging	0.59
R5571:Or1j10	UTSW	2	36,267,129 (GRCm39)	missense	probably benign	0.01
R5999:Or1j10	UTSW	2	36,267,322 (GRCm39)	missense	probably damaging	1.00
R6030:Or1j10	UTSW	2	36,267,556 (GRCm39)	missense	probably damaging	0.97
R6030:Or1j10	UTSW	2	36,267,556 (GRCm39)	missense	probably damaging	0.97
R6351:Or1j10	UTSW	2	36,267,208 (GRCm39)	missense	possibly damaging	0.78
R6695:Or1j10	UTSW	2	36,267,117 (GRCm39)	missense	probably benign	0.28
R6785:Or1j10	UTSW	2	36,266,963 (GRCm39)	nonsense	probably null
R6785:Or1j10	UTSW	2	36,266,854 (GRCm39)	missense	probably benign	0.12
R7795:Or1j10	UTSW	2	36,267,453 (GRCm39)	missense	probably benign	0.05
R7814:Or1j10	UTSW	2	36,266,821 (GRCm39)	missense	possibly damaging	0.48
R7878:Or1j10	UTSW	2	36,267,145 (GRCm39)	missense	probably damaging	1.00
R8820:Or1j10	UTSW	2	36,267,006 (GRCm39)	missense	probably damaging	1.00
R8952:Or1j10	UTSW	2	36,267,402 (GRCm39)	missense	probably benign	0.01
R9512:Or1j10	UTSW	2	36,267,325 (GRCm39)	missense	possibly damaging	0.84
R9676:Or1j10	UTSW	2	36,266,848 (GRCm39)	missense	probably benign	0.01
R9705:Or1j10	UTSW	2	36,266,962 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATCATCCTGCTCATCAGGCTGGAC -3'
(R):5'- AAGGGATTCAACATGGGTGTGACC -3'

Sequencing Primer
(F):5'- GCTCGTGAATATGCTGACAC -3'
(R):5'- TCAACATGGGTGTGACCATAGTG -3'

Posted On

2013-05-23