Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Or13j1'

394511

Institutional Source

Beutler Lab

Gene Symbol

Or13j1

Ensembl Gene

ENSMUSG00000046450

Gene Name

olfactory receptor family 13 subfamily J member 1

Synonyms

MOR262-4, Olfr71, mOR17, GA_x6K02T2N78B-16230286-16231224

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5049 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

43705628-43706566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43706259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 103 (L103Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055401] [ENSMUST00000107862] [ENSMUST00000217544]

AlphaFold

Q9QZ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000055401
AA Change: L103Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: L103Q

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.4e-34	PFAM
Pfam:7tm_4	139	283	4.5e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107862
AA Change: L103Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: L103Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	2.2e-52	PFAM
Pfam:7tm_1	41	290	7.5e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217544
AA Change: L103Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.5871

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,321,698 (GRCm39)	S76P	probably damaging	Het
Acot8	A	G	2: 164,641,610 (GRCm39)		probably benign	Het
Angptl7	A	G	4: 148,582,468 (GRCm39)	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,408,686 (GRCm39)	T283A	probably benign	Het
Bltp1	T	A	3: 37,094,655 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,095,539 (GRCm39)	M1016T	probably damaging	Het
Brd3	G	T	2: 27,340,589 (GRCm39)		probably benign	Het
C130026L21Rik	T	A	5: 111,729,702 (GRCm39)		noncoding transcript	Het
Cbr4	T	G	8: 61,948,238 (GRCm39)		probably null	Het
Ccl19	A	G	4: 42,756,268 (GRCm39)		probably null	Het
Ccl2	G	T	11: 81,927,333 (GRCm39)	C34F	probably damaging	Het
Dnah12	A	T	14: 26,456,852 (GRCm39)	T873S	probably benign	Het
Dnah2	T	C	11: 69,338,992 (GRCm39)	N3118S	probably damaging	Het
Elapor2	A	G	5: 9,478,488 (GRCm39)	T451A	probably damaging	Het
Epb41l1	C	A	2: 156,366,859 (GRCm39)	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,313,481 (GRCm39)	M567K	probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Foxf2	T	C	13: 31,811,158 (GRCm39)	S366P	probably benign	Het
Gamt	T	A	10: 80,094,788 (GRCm39)	T186S	probably benign	Het
Gcn1	T	A	5: 115,744,730 (GRCm39)	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Golga1	A	T	2: 38,937,747 (GRCm39)	M115K	probably damaging	Het
Hapstr1	T	A	16: 8,661,073 (GRCm39)	D183E	probably damaging	Het
Herc3	A	G	6: 58,871,524 (GRCm39)		probably null	Het
Hes2	C	A	4: 152,244,331 (GRCm39)	L39I	possibly damaging	Het
Hopx	C	A	5: 77,242,899 (GRCm39)		probably benign	Het
Idi1	C	T	13: 8,938,078 (GRCm39)	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,481 (GRCm39)	C325*	probably null	Het
Ighv7-3	T	C	12: 114,116,953 (GRCm39)	I70V	probably benign	Het
Kcnq3	T	C	15: 66,157,746 (GRCm39)	T110A	probably benign	Het
Kif5a	T	C	10: 127,075,708 (GRCm39)	D451G	possibly damaging	Het
Lama3	A	G	18: 12,715,668 (GRCm39)	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,705,086 (GRCm39)	D371E	probably damaging	Het
Lyst	T	A	13: 13,810,649 (GRCm39)	V773E	probably damaging	Het
Map4	T	A	9: 109,908,882 (GRCm39)	L23*	probably null	Het
Mapkbp1	G	T	2: 119,845,982 (GRCm39)		probably benign	Het
Mrpl30	A	T	1: 37,936,791 (GRCm39)	D52V	possibly damaging	Het
Or10ag57	A	T	2: 87,219,002 (GRCm39)	T318S	probably benign	Het
Pard3b	T	A	1: 62,200,320 (GRCm39)	H286Q	probably benign	Het
Parp4	A	G	14: 56,873,188 (GRCm39)	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,321,012 (GRCm39)	S22P	probably benign	Het
Prss32	A	T	17: 24,078,221 (GRCm39)	E302D	possibly damaging	Het
Prss45	A	G	9: 110,669,538 (GRCm39)	K205E	probably damaging	Het
Puf60	T	A	15: 75,942,323 (GRCm39)	I500F	probably damaging	Het
Ryr3	A	T	2: 112,470,516 (GRCm39)	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,228,950 (GRCm39)		probably benign	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,260,906 (GRCm39)	Y608H	probably damaging	Het
Socs7	G	T	11: 97,269,469 (GRCm39)	R429L	probably benign	Het
Sorcs3	C	A	19: 48,748,390 (GRCm39)	N786K	possibly damaging	Het
Sp4	A	T	12: 118,218,207 (GRCm39)	M680K	probably benign	Het
Tas2r131	T	C	6: 132,934,540 (GRCm39)	T90A	probably damaging	Het
Tasor2	A	T	13: 3,624,000 (GRCm39)	H1983Q	probably benign	Het
Tbx21	T	C	11: 97,005,536 (GRCm39)	H143R	probably benign	Het
Tg	T	A	15: 66,699,231 (GRCm39)	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057 (GRCm39)	S355P	probably benign	Het
Tmem86b	G	A	7: 4,631,465 (GRCm39)	P191S	possibly damaging	Het
Tnc	A	G	4: 63,936,223 (GRCm39)	C238R	probably damaging	Het
Tnn	T	A	1: 159,968,308 (GRCm39)	E361D	probably benign	Het
Tpp2	T	C	1: 44,040,633 (GRCm39)	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,954,536 (GRCm39)	N22S	probably damaging	Het
Trim75	T	C	8: 65,435,091 (GRCm39)		probably null	Het
Trrap	T	A	5: 144,763,527 (GRCm39)	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773 (GRCm39)	A561E	probably benign	Het
Uqcc1	A	G	2: 155,752,341 (GRCm39)	V86A	probably damaging	Het
Vmn1r184	A	G	7: 25,966,793 (GRCm39)	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,920 (GRCm39)	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,306,019 (GRCm39)		probably null	Het
Vmn2r87	T	C	10: 130,308,298 (GRCm39)	T647A	probably damaging	Het
Vps13d	A	T	4: 144,813,336 (GRCm39)	H198Q	probably damaging	Het
Wdfy4	T	C	14: 32,874,627 (GRCm39)	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,347,478 (GRCm39)	M3240V	probably benign	Het
Zfp101	T	C	17: 33,600,872 (GRCm39)	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,184,938 (GRCm39)	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,863,110 (GRCm39)		noncoding transcript	Het

Other mutations in Or13j1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02317:Or13j1	APN	4	43,706,172 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Or13j1	UTSW	4	43,706,464 (GRCm39)	missense	probably damaging	1.00
R0597:Or13j1	UTSW	4	43,706,592 (GRCm39)	splice site	probably null
R0610:Or13j1	UTSW	4	43,706,400 (GRCm39)	missense	possibly damaging	0.69
R1588:Or13j1	UTSW	4	43,705,923 (GRCm39)	missense	probably damaging	0.98
R1619:Or13j1	UTSW	4	43,706,292 (GRCm39)	missense	probably damaging	1.00
R1779:Or13j1	UTSW	4	43,706,041 (GRCm39)	missense	probably damaging	1.00
R2871:Or13j1	UTSW	4	43,706,458 (GRCm39)	missense	probably benign	0.30
R2871:Or13j1	UTSW	4	43,706,458 (GRCm39)	missense	probably benign	0.30
R4723:Or13j1	UTSW	4	43,705,785 (GRCm39)	missense	probably damaging	1.00
R4891:Or13j1	UTSW	4	43,706,194 (GRCm39)	missense	probably damaging	0.99
R5151:Or13j1	UTSW	4	43,706,518 (GRCm39)	missense	probably damaging	0.99
R5491:Or13j1	UTSW	4	43,705,990 (GRCm39)	missense	probably damaging	1.00
R5521:Or13j1	UTSW	4	43,705,788 (GRCm39)	missense	possibly damaging	0.88
R6225:Or13j1	UTSW	4	43,705,698 (GRCm39)	missense	probably damaging	1.00
R6518:Or13j1	UTSW	4	43,706,334 (GRCm39)	missense	probably benign	0.05
R6883:Or13j1	UTSW	4	43,705,723 (GRCm39)	missense	possibly damaging	0.93
R7185:Or13j1	UTSW	4	43,706,082 (GRCm39)	missense	possibly damaging	0.82
R7339:Or13j1	UTSW	4	43,706,080 (GRCm39)	missense	probably benign	0.05
R7502:Or13j1	UTSW	4	43,706,316 (GRCm39)	missense	probably damaging	0.97
R8052:Or13j1	UTSW	4	43,705,884 (GRCm39)	missense	probably damaging	0.97
R8797:Or13j1	UTSW	4	43,706,455 (GRCm39)	missense	probably damaging	1.00
R9701:Or13j1	UTSW	4	43,705,793 (GRCm39)	missense	probably benign	0.00
X0017:Or13j1	UTSW	4	43,705,990 (GRCm39)	missense	probably damaging	1.00
X0021:Or13j1	UTSW	4	43,706,326 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTGCCACTGACTTGAAGAGG -3'
(R):5'- GAAGGGATTTTCTGGCTACCCG -3'

Sequencing Primer
(F):5'- CTTGAAGAGGCAGAGCACCC -3'
(R):5'- GCTCAGTCATGTACCTGGTGAC -3'

Posted On

2016-06-15