Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Or1j13'

254603

Institutional Source

Beutler Lab

Gene Symbol

Or1j13

Ensembl Gene

ENSMUSG00000075387

Gene Name

olfactory receptor family 1 subfamily J member 13

Synonyms

MOR136-2, GA_x6K02T2NLDC-33174915-33173974, Olfr341

MMRRC Submission

040427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36369199-36370140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36369986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 52 (D52G)

Ref Sequence

ENSEMBL: ENSMUSP00000150801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100154] [ENSMUST00000213300]

AlphaFold

Q8VGK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000100154
AA Change: D52G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097731
Gene: ENSMUSG00000075387
AA Change: D52G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.6e-59	PFAM
Pfam:7TM_GPCR_Srsx	35	305	4e-6	PFAM
Pfam:7tm_1	41	290	9.1e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213300
AA Change: D52G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	T	11: 6,150,161 (GRCm39)		probably benign	Het
Abca13	A	T	11: 9,283,310 (GRCm39)	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,748,562 (GRCm39)	T219A	probably damaging	Het
Adgrg5	A	T	8: 95,660,649 (GRCm39)	N92I	probably damaging	Het
Agt	A	C	8: 125,283,694 (GRCm39)	V475G	probably damaging	Het
Akap6	A	G	12: 52,934,061 (GRCm39)	K518E	possibly damaging	Het
Apoh	T	G	11: 108,295,697 (GRCm39)	D133E	probably benign	Het
Axdnd1	T	A	1: 156,220,319 (GRCm39)	M234L	possibly damaging	Het
Cacna1d	A	G	14: 29,804,468 (GRCm39)	I1335T	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566 (GRCm39)	K444*	probably null	Het
Clasp2	A	G	9: 113,707,832 (GRCm39)	I614M	probably benign	Het
Col6a4	A	T	9: 105,940,275 (GRCm39)	D1218E	possibly damaging	Het
Cplane1	T	C	15: 8,230,753 (GRCm39)	V1010A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
D130043K22Rik	C	T	13: 25,067,874 (GRCm39)	T870M	probably damaging	Het
Dagla	C	A	19: 10,225,516 (GRCm39)	A883S	probably benign	Het
Dhx30	A	G	9: 109,926,263 (GRCm39)	V87A	probably damaging	Het
Dtx1	C	A	5: 120,848,249 (GRCm39)	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,683,605 (GRCm39)	S528T	possibly damaging	Het
Eeig2	T	A	3: 108,886,164 (GRCm39)	N356I	probably benign	Het
Egfem1	A	T	3: 29,637,080 (GRCm39)	N172I	probably damaging	Het
Fam13a	T	G	6: 58,912,594 (GRCm39)	R686S	probably damaging	Het
Fam243	A	G	16: 92,118,207 (GRCm39)	L27P	probably damaging	Het
Fmo1	T	A	1: 162,663,828 (GRCm39)	I234L	probably benign	Het
Foxj2	C	T	6: 122,805,331 (GRCm39)	R68W	probably damaging	Het
Foxo6	A	T	4: 120,125,961 (GRCm39)	M278K	probably benign	Het
Fsip2	A	G	2: 82,820,775 (GRCm39)	S5503G	probably benign	Het
Gdf5	C	G	2: 155,784,010 (GRCm39)	R100G	probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Klhl29	A	G	12: 5,141,350 (GRCm39)	S545P	probably damaging	Het
Krt87	G	T	15: 101,385,708 (GRCm39)	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,599,638 (GRCm39)	S509R	probably damaging	Het
Lmod1	A	T	1: 135,291,702 (GRCm39)	K186*	probably null	Het
Lrpprc	C	T	17: 85,034,077 (GRCm39)	A973T	probably damaging	Het
Marco	T	C	1: 120,422,514 (GRCm39)	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,906,001 (GRCm39)	N394S	probably null	Het
Myo5a	A	G	9: 75,030,322 (GRCm39)	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,059,179 (GRCm39)	V469A	probably damaging	Het
Myot	A	G	18: 44,470,283 (GRCm39)	T87A	probably benign	Het
Nav2	A	G	7: 49,247,312 (GRCm39)	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112 (GRCm38)	E1037G	possibly damaging	Het
Or52e4	A	G	7: 104,705,878 (GRCm39)	T142A	probably benign	Het
Or5k17	A	G	16: 58,746,286 (GRCm39)	V216A	probably benign	Het
Pitrm1	G	T	13: 6,625,128 (GRCm39)	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Prdx1	T	G	4: 116,550,997 (GRCm39)	I156S	probably benign	Het
Rbks	T	A	5: 31,823,096 (GRCm39)	T107S	probably damaging	Het
Ryr3	G	A	2: 112,506,219 (GRCm39)	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,103,813 (GRCm39)	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,457,568 (GRCm39)	V214A	probably benign	Het
Slc35c1	T	C	2: 92,289,225 (GRCm39)	N94D	probably benign	Het
Sorbs2	A	T	8: 46,248,407 (GRCm39)	K553*	probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thg1l	A	G	11: 45,842,392 (GRCm39)	V142A	probably benign	Het
Tiparp	T	A	3: 65,460,551 (GRCm39)	Y513*	probably null	Het
Tmc6	A	G	11: 117,663,646 (GRCm39)	V522A	probably benign	Het
Trim39	T	A	17: 36,580,056 (GRCm39)		probably benign	Het
Trrap	G	A	5: 144,780,179 (GRCm39)		probably null	Het
Tulp3	C	T	6: 128,304,601 (GRCm39)	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,753,955 (GRCm39)	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,719,147 (GRCm39)	Y833*	probably null	Het
Zfp810	A	T	9: 22,190,534 (GRCm39)	S125T	probably benign	Het

Other mutations in Or1j13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Or1j13	APN	2	36,369,368 (GRCm39)	missense	probably damaging	1.00
IGL01469:Or1j13	APN	2	36,369,836 (GRCm39)	missense	probably benign	0.44
IGL02269:Or1j13	APN	2	36,369,579 (GRCm39)	missense	possibly damaging	0.86
IGL02870:Or1j13	APN	2	36,370,043 (GRCm39)	missense	probably benign
IGL03190:Or1j13	APN	2	36,369,734 (GRCm39)	missense	probably damaging	1.00
R0988:Or1j13	UTSW	2	36,369,779 (GRCm39)	missense	probably damaging	1.00
R1214:Or1j13	UTSW	2	36,369,981 (GRCm39)	missense	possibly damaging	0.67
R1785:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R1786:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2130:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2131:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2132:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2133:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R4115:Or1j13	UTSW	2	36,369,797 (GRCm39)	missense	probably damaging	1.00
R4384:Or1j13	UTSW	2	36,370,010 (GRCm39)	missense	probably damaging	1.00
R4721:Or1j13	UTSW	2	36,369,836 (GRCm39)	missense	probably benign	0.44
R5375:Or1j13	UTSW	2	36,369,309 (GRCm39)	missense	probably damaging	0.98
R6035:Or1j13	UTSW	2	36,369,996 (GRCm39)	missense	probably damaging	1.00
R6035:Or1j13	UTSW	2	36,369,996 (GRCm39)	missense	probably damaging	1.00
R6084:Or1j13	UTSW	2	36,369,524 (GRCm39)	missense	probably benign	0.01
R6340:Or1j13	UTSW	2	36,370,032 (GRCm39)	missense	probably benign	0.31
R7238:Or1j13	UTSW	2	36,369,726 (GRCm39)	missense	possibly damaging	0.54
R7532:Or1j13	UTSW	2	36,370,138 (GRCm39)	start codon destroyed	probably null	0.27
R7830:Or1j13	UTSW	2	36,369,392 (GRCm39)	missense	probably damaging	1.00
R7910:Or1j13	UTSW	2	36,369,345 (GRCm39)	missense	probably damaging	0.98
R8737:Or1j13	UTSW	2	36,369,629 (GRCm39)	missense	probably benign	0.00
R8821:Or1j13	UTSW	2	36,369,794 (GRCm39)	missense	possibly damaging	0.94
R8831:Or1j13	UTSW	2	36,369,794 (GRCm39)	missense	possibly damaging	0.94
R8847:Or1j13	UTSW	2	36,369,483 (GRCm39)	nonsense	probably null
R9070:Or1j13	UTSW	2	36,369,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCCACATACCTGTCATAG -3'
(R):5'- TTTCACTCACAGCAGAAGAGG -3'

Sequencing Primer
(F):5'- CTGTCATAGGCCATGGAGGTC -3'
(R):5'- TTCACTCACAGCAGAAGAGGAAGAAC -3'

Posted On

2014-12-04