Mutagenetix > Incidental Mutation

Incidental Mutation 'R7830:Or1j13'

602358

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

045884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7830 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36369199-36370140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36369392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 250 (L250P)

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: L250P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097731
Gene: ENSMUSG00000075387
AA Change: L250P

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: L250P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	C	10: 80,442,654 (GRCm39)	L164P	probably damaging	Het
Aldh16a1	A	T	7: 44,795,649 (GRCm39)	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,539,664 (GRCm39)	N65S	probably damaging	Het
Ankrd54	G	A	15: 78,938,250 (GRCm39)	T287I	probably damaging	Het
Bltp1	CCAGATTCATGTAGCA	CCA	3: 37,019,081 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,753,801 (GRCm39)	V108E	possibly damaging	Het
Cd200l1	A	T	16: 45,262,917 (GRCm39)	I187N	probably damaging	Het
Cntnap5c	A	T	17: 58,469,245 (GRCm39)	D609V	probably damaging	Het
Col6a4	G	T	9: 105,952,589 (GRCm39)	D436E	probably damaging	Het
Cul9	A	T	17: 46,851,237 (GRCm39)	D394E	probably benign	Het
Cyfip1	A	G	7: 55,523,210 (GRCm39)	E75G	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Eif2ak2	C	T	17: 79,173,832 (GRCm39)	G249S	probably damaging	Het
Erich4	A	T	7: 25,315,149 (GRCm39)	M42K	probably benign	Het
Fig4	A	C	10: 41,132,462 (GRCm39)	V448G	probably benign	Het
Gas1	T	C	13: 60,323,848 (GRCm39)	D303G	probably damaging	Het
Golgb1	T	G	16: 36,719,083 (GRCm39)	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,378,357 (GRCm39)	A53V	probably benign	Het
Klk1b27	A	C	7: 43,705,150 (GRCm39)	M106L	probably benign	Het
Lipc	T	C	9: 70,720,183 (GRCm39)	T190A	probably damaging	Het
Lrrc4b	A	G	7: 44,111,231 (GRCm39)	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,284 (GRCm39)	Q368L	probably benign	Het
Myo10	T	A	15: 25,738,057 (GRCm39)	Y501*	probably null	Het
Neb	T	A	2: 52,055,201 (GRCm39)	H6445L	probably benign	Het
Numa1	T	A	7: 101,648,492 (GRCm39)	M741K	probably benign	Het
Nxn	T	A	11: 76,164,819 (GRCm39)	I231F	probably damaging	Het
Or5b116	T	C	19: 13,422,985 (GRCm39)	L203S	probably benign	Het
Osbp2	A	G	11: 3,813,414 (GRCm39)	S152P	probably benign	Het
P3h4	T	C	11: 100,304,869 (GRCm39)	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,221,733 (GRCm39)	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,469,365 (GRCm39)	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057 (GRCm39)	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,574,481 (GRCm39)	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,310,000 (GRCm39)	T155I	probably benign	Het
Prune2	C	A	19: 17,100,038 (GRCm39)	N1847K	probably benign	Het
Psg21	A	T	7: 18,381,223 (GRCm39)	V440E	probably damaging	Het
Rag1	A	G	2: 101,472,404 (GRCm39)	S913P	probably damaging	Het
Rmc1	A	G	18: 12,301,928 (GRCm39)	N24S	probably benign	Het
Ros1	T	A	10: 52,031,030 (GRCm39)	H525L	probably damaging	Het
Scarb1	T	C	5: 125,364,447 (GRCm39)	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 34,114,030 (GRCm39)	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,123,355 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,566 (GRCm39)	D299G	probably benign	Het
Sox1	G	A	8: 12,446,955 (GRCm39)	A199T	probably damaging	Het
Strc	T	A	2: 121,205,530 (GRCm39)	I867F	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Usf3	C	T	16: 44,040,142 (GRCm39)	Q1541*	probably null	Het
Wrn	G	A	8: 33,759,082 (GRCm39)	L716F	probably damaging	Het
Zfp141	G	A	7: 42,124,612 (GRCm39)	T620I	probably benign	Het
Zfp354b	A	T	11: 50,814,136 (GRCm39)	I263K	probably benign	Het
Zfp804b	T	A	5: 6,821,124 (GRCm39)	E646D	probably benign	Het
Zfp970	G	T	2: 177,167,338 (GRCm39)	C304F	probably damaging	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
R2568:Or1j13	UTSW	2	36,369,986 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCATTATTACCACTGTGGACAC -3'
(R):5'- CCTTATTGAGCCTGTCGAGCTC -3'

Sequencing Primer
(F):5'- TGGGTGTGACCAGACTAT -3'
(R):5'- AGCCTGTCGAGCTCAGACAC -3'

Posted On

2019-12-03