Mutagenetix > Incidental Mutation

Incidental Mutation 'R1500:Or1j10'

169154

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

039551-MU

Accession Numbers

Essential gene?

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

Stock #

R1500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36266790-36267710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36267633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 282 (M282L)

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: M282L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: M282L

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: M282L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000088528
Gene: ENSMUSG00000068950
AA Change: M282L

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: M282L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

95% (81/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	A	G	17: 31,330,253 (GRCm39)	D518G	probably benign	Het
Acaca	T	A	11: 84,184,810 (GRCm39)	D96E	probably benign	Het
Actbl2	G	A	13: 111,391,854 (GRCm39)	R63Q	probably damaging	Het
Adamts6	T	A	13: 104,449,389 (GRCm39)	H266Q	probably damaging	Het
Aff4	T	C	11: 53,263,205 (GRCm39)	V75A	probably benign	Het
Ank2	A	G	3: 126,726,631 (GRCm39)	S888P	probably benign	Het
Ano7	T	C	1: 93,325,050 (GRCm39)	F534S	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bcam	T	A	7: 19,492,889 (GRCm39)	D484V	possibly damaging	Het
Bltp2	C	A	11: 78,174,958 (GRCm39)	Q1698K	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,713 (GRCm39)	Y1240H	probably benign	Het
Cfh	T	C	1: 140,028,614 (GRCm39)	Y500C	probably damaging	Het
Chd1l	G	A	3: 97,490,121 (GRCm39)	A478V	probably benign	Het
Dnah1	T	C	14: 31,038,715 (GRCm39)	D122G	probably benign	Het
Dnah11	A	T	12: 117,976,564 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,991,879 (GRCm39)	K1230E	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E330020D12Rik	A	T	1: 153,284,125 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,462,992 (GRCm39)	L639P	probably damaging	Het
Epha3	A	T	16: 63,416,025 (GRCm39)	V658E	probably benign	Het
Erbb2	C	T	11: 98,319,804 (GRCm39)	T632I	probably damaging	Het
Erc2	A	G	14: 27,993,617 (GRCm39)	T883A	probably damaging	Het
Extl2	T	C	3: 115,820,789 (GRCm39)	V198A	probably benign	Het
Fktn	G	T	4: 53,735,065 (GRCm39)	M234I	probably benign	Het
Ggt7	A	G	2: 155,340,966 (GRCm39)	S400P	probably benign	Het
Gldc	A	C	19: 30,091,225 (GRCm39)	V790G	possibly damaging	Het
Gm14496	A	C	2: 181,633,026 (GRCm39)	Q3P	probably benign	Het
H2-D1	G	A	17: 35,482,564 (GRCm39)	E95K	probably benign	Het
Ikzf3	T	C	11: 98,409,521 (GRCm39)	E14G	probably benign	Het
Jag1	A	T	2: 136,957,558 (GRCm39)	N51K	possibly damaging	Het
Khdrbs3	A	G	15: 68,800,635 (GRCm39)	D14G	possibly damaging	Het
Krt84	A	G	15: 101,438,659 (GRCm39)	V276A	probably damaging	Het
Lamb1	T	C	12: 31,348,948 (GRCm39)	I660T	possibly damaging	Het
Lcmt2	A	T	2: 120,970,488 (GRCm39)	S198R	probably benign	Het
Lcn6	G	A	2: 25,567,131 (GRCm39)	R44H	probably benign	Het
Lrfn5	A	T	12: 61,886,527 (GRCm39)	H105L	probably damaging	Het
Lrit1	G	A	14: 36,784,091 (GRCm39)	R473K	probably benign	Het
Marchf1	A	G	8: 66,921,042 (GRCm39)	T495A	probably damaging	Het
Marveld3	T	G	8: 110,675,174 (GRCm39)		probably null	Het
Mbd3	T	C	10: 80,230,420 (GRCm39)	D160G	possibly damaging	Het
Mrc2	T	G	11: 105,238,551 (GRCm39)	C1233G	probably damaging	Het
Ms4a13	T	G	19: 11,161,225 (GRCm39)	T105P	probably damaging	Het
Mtbp	T	C	15: 55,480,951 (GRCm39)	Y306H	probably damaging	Het
Muc3a	T	C	5: 137,244,958 (GRCm39)		probably benign	Het
Myo1g	T	A	11: 6,470,811 (GRCm39)	Y15F	probably benign	Het
Nae1	A	T	8: 105,250,216 (GRCm39)	Y226N	probably benign	Het
Nlrp9a	A	G	7: 26,267,316 (GRCm39)	S715G	probably benign	Het
Or2ag17	T	C	7: 106,390,028 (GRCm39)	Y60C	probably damaging	Het
Or4s2b	T	A	2: 88,508,219 (GRCm39)	S7T	possibly damaging	Het
Or7g26	A	T	9: 19,230,612 (GRCm39)	S267C	probably damaging	Het
Or8g55	G	T	9: 39,784,707 (GRCm39)	M45I	probably benign	Het
Pex5l	T	C	3: 33,069,129 (GRCm39)	T123A	probably damaging	Het
Pip5kl1	A	T	2: 32,466,691 (GRCm39)	N62I	probably benign	Het
Pkhd1l1	T	C	15: 44,408,890 (GRCm39)	V2459A	probably damaging	Het
Prb1a	T	A	6: 132,184,439 (GRCm39)	Q398L	unknown	Het
Prkab2	T	C	3: 97,571,263 (GRCm39)	L165S	probably damaging	Het
Prl3d2	C	G	13: 27,305,689 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,143,472 (GRCm39)	G435D	probably benign	Het
Qrfpr	A	G	3: 36,236,729 (GRCm39)	L224P	probably damaging	Het
Rasl2-9	C	T	7: 5,128,441 (GRCm39)	W163*	probably null	Het
Rgs5	A	G	1: 169,517,983 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,972,754 (GRCm39)	L255P	probably damaging	Het
Rp9	A	C	9: 22,368,751 (GRCm39)	N69K	probably damaging	Het
Sh3bp4	G	T	1: 89,073,210 (GRCm39)	S686I	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Spp2	C	A	1: 88,340,015 (GRCm39)	Q5K	possibly damaging	Het
Svep1	C	T	4: 58,070,239 (GRCm39)	G2516R	probably damaging	Het
Syncrip	A	C	9: 88,361,949 (GRCm39)	S55R	probably damaging	Het
Tacc3	T	C	5: 33,818,652 (GRCm39)	L29P	probably damaging	Het
Tex15	A	G	8: 34,065,120 (GRCm39)	T1517A	probably damaging	Het
Tmem140	A	G	6: 34,849,660 (GRCm39)	M59V	probably benign	Het
Ttn	G	T	2: 76,575,872 (GRCm39)	A25007E	probably damaging	Het
Ubr2	T	C	17: 47,297,615 (GRCm39)	T253A	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usp38	A	G	8: 81,722,399 (GRCm39)	L374P	probably damaging	Het
Vmn1r42	T	A	6: 89,822,483 (GRCm39)	I29L	probably benign	Het
Vmn2r94	C	T	17: 18,477,242 (GRCm39)	V390M	probably benign	Het
Vmp1	A	G	11: 86,552,026 (GRCm39)	Y113H	possibly damaging	Het
Wdr20	T	C	12: 110,760,464 (GRCm39)	M450T	probably benign	Het
Ylpm1	T	C	12: 85,061,770 (GRCm39)	V557A	unknown	Het
Zpld1	T	C	16: 55,053,935 (GRCm39)	N286D	probably damaging	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
R0469:Or1j10	UTSW	2	36,267,474 (GRCm39)	missense	probably benign	0.02
R1263:Or1j10	UTSW	2	36,267,006 (GRCm39)	missense	probably damaging	0.99
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'- TTGCTGAAGCTGTCCAGCTCAGAC -3'
(R):5'- TTTGCCCCAAAAGTTACAAGCTATCCA -3'

Sequencing Primer
(F):5'- GCCGCATTGGAGTAACCATTATG -3'
(R):5'- aaCTGTTTGAGAAAGATATCATGTGC -3'

Posted On

2014-04-13