Mutagenetix > Incidental Mutation

Incidental Mutation 'R8520:Or12j5'

658594

Institutional Source

Beutler Lab

Gene Symbol

Or12j5

Ensembl Gene

ENSMUSG00000052508

Gene Name

olfactory receptor family 12 subfamily J member 5

Synonyms

MOR252-4, GA_x6K02T2PBJ9-42653501-42652578, Olfr536, MOR252-1

MMRRC Submission

067947-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140080766-140087231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140084315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 19 (D19V)

Ref Sequence

ENSEMBL: ENSMUSP00000149758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064392] [ENSMUST00000209873] [ENSMUST00000215340] [ENSMUST00000215768]

AlphaFold

Q8VFE9

Predicted Effect

probably benign
Transcript: ENSMUST00000064392
AA Change: D19V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000067699
Gene: ENSMUSG00000052508
AA Change: D19V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	8.7e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	304	5.4e-6	PFAM
Pfam:7tm_1	41	289	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209873
AA Change: D19V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000215340
AA Change: D19V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000215768
AA Change: D19V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,423 (GRCm39)	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,644,968 (GRCm39)	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,735,346 (GRCm39)	I151T	possibly damaging	Het
Adam28	C	T	14: 68,879,532 (GRCm39)	G172D	probably damaging	Het
Adcy6	A	G	15: 98,502,041 (GRCm39)	V191A	probably benign	Het
Ankrd52	T	C	10: 128,225,359 (GRCm39)	L911P	probably damaging	Het
C5ar1	A	G	7: 15,982,076 (GRCm39)	S315P	probably damaging	Het
Cubn	A	G	2: 13,313,331 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,941,277 (GRCm39)	S276P	probably benign	Het
Dnah14	T	A	1: 181,481,203 (GRCm39)	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,712,508 (GRCm39)	G171R	probably damaging	Het
Dusp13b	C	A	14: 21,793,538 (GRCm39)	G208*	probably null	Het
Ebf3	A	C	7: 136,802,853 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,171,270 (GRCm39)		probably null	Het
Fbxo27	A	G	7: 28,392,767 (GRCm39)	D16G	probably benign	Het
G6pc3	A	G	11: 102,083,934 (GRCm39)	S187G	probably benign	Het
Gucy2d	G	A	7: 98,121,513 (GRCm39)	V995I	probably null	Het
Hmcn2	C	A	2: 31,244,726 (GRCm39)	P728T	probably damaging	Het
Il1r2	T	C	1: 40,144,499 (GRCm39)	L62P	probably damaging	Het
Ints7	T	C	1: 191,314,603 (GRCm39)	S63P	probably damaging	Het
Lyset	T	A	12: 102,710,431 (GRCm39)		probably null	Het
Mcf2l	C	A	8: 12,930,089 (GRCm39)	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,590,586 (GRCm39)	I109S	probably benign	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,490,734 (GRCm39)		probably null	Het
Nanog	A	T	6: 122,690,475 (GRCm39)	L268F	possibly damaging	Het
Or14a259	A	T	7: 86,013,471 (GRCm39)	C25S	probably benign	Het
Otud4	T	A	8: 80,385,896 (GRCm39)	N256K	probably damaging	Het
P2rx1	A	T	11: 72,899,779 (GRCm39)	D128V	probably benign	Het
Pappa	G	A	4: 65,254,001 (GRCm39)	V1552I	probably benign	Het
Pax8	A	T	2: 24,333,034 (GRCm39)	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,412,204 (GRCm39)	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,169 (GRCm39)	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,947,911 (GRCm39)	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,450,910 (GRCm39)	N217K	probably benign	Het
Slc2a13	T	A	15: 91,457,105 (GRCm39)	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,526,506 (GRCm39)	M9T	probably benign	Het
Sord	G	A	2: 122,087,423 (GRCm39)	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,890,792 (GRCm39)	Q892*	probably null	Het
Thsd7b	T	A	1: 129,849,157 (GRCm39)	D956E	probably benign	Het
Topbp1	T	A	9: 103,186,176 (GRCm39)		probably null	Het
Tst	T	C	15: 78,289,453 (GRCm39)	E194G	probably damaging	Het
Ttk	T	A	9: 83,739,380 (GRCm39)	S484T	possibly damaging	Het
U2surp	A	G	9: 95,384,607 (GRCm39)	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,388,714 (GRCm39)	A500T	probably benign	Het
Utrn	A	T	10: 12,545,930 (GRCm39)	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,718,615 (GRCm39)	Q656L	probably damaging	Het
Wdr7	A	G	18: 64,120,231 (GRCm39)	N1424S	probably benign	Het
Xkr9	A	G	1: 13,771,603 (GRCm39)	D373G	probably benign	Het
Zfp984	T	A	4: 147,840,668 (GRCm39)	Y61F	probably benign	Het

Other mutations in Or12j5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or12j5	APN	7	140,084,097 (GRCm39)	missense	probably damaging	1.00
IGL02065:Or12j5	APN	7	140,084,077 (GRCm39)	missense	probably benign	0.02
IGL02812:Or12j5	APN	7	140,083,533 (GRCm39)	missense	probably damaging	0.99
IGL02896:Or12j5	APN	7	140,083,968 (GRCm39)	splice site	probably null
IGL03281:Or12j5	APN	7	140,083,713 (GRCm39)	missense	probably damaging	1.00
R2440:Or12j5	UTSW	7	140,083,465 (GRCm39)	missense	probably benign	0.25
R3110:Or12j5	UTSW	7	140,083,832 (GRCm39)	missense	probably damaging	0.99
R3112:Or12j5	UTSW	7	140,083,832 (GRCm39)	missense	probably damaging	0.99
R4349:Or12j5	UTSW	7	140,084,270 (GRCm39)	nonsense	probably null
R4660:Or12j5	UTSW	7	140,083,933 (GRCm39)	missense	probably benign	0.03
R4827:Or12j5	UTSW	7	140,083,583 (GRCm39)	missense	probably damaging	0.96
R5606:Or12j5	UTSW	7	140,083,713 (GRCm39)	missense	probably damaging	1.00
R5607:Or12j5	UTSW	7	140,084,318 (GRCm39)	missense	probably benign	0.10
R7102:Or12j5	UTSW	7	140,084,229 (GRCm39)	missense	probably benign	0.05
R7354:Or12j5	UTSW	7	140,084,099 (GRCm39)	missense	probably damaging	1.00
R8081:Or12j5	UTSW	7	140,084,369 (GRCm39)	start codon destroyed	probably null	1.00
R8095:Or12j5	UTSW	7	140,084,192 (GRCm39)	missense	probably damaging	1.00
R8880:Or12j5	UTSW	7	140,084,172 (GRCm39)	missense	probably benign	0.00
R9124:Or12j5	UTSW	7	140,084,222 (GRCm39)	missense	probably benign
Z1088:Or12j5	UTSW	7	140,083,718 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACTTTGGGCAAGACAGTCAC -3'
(R):5'- GACCTGCTATTTTCATTACCCTGAG -3'

Sequencing Primer
(F):5'- CAGTGCAGATCATATCCATCAGGG -3'
(R):5'- TCATTACCCTGAGAGACATGAATGAG -3'

Posted On

2021-01-18