Mutagenetix > Incidental Mutation

Incidental Mutation 'R3151:Or12j2'

264406

Institutional Source

Beutler Lab

Gene Symbol

Or12j2

Ensembl Gene

ENSMUSG00000062782

Gene Name

olfactory receptor family 12 subfamily J member 2

Synonyms

Olfr527, MOR251-5, GA_x6K02T2PBJ9-42486061-42486978

MMRRC Submission

040603-MU

Accession Numbers

Essential gene?

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

Stock #

R3151 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139915777-139916694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139916243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 156 (H156L)

Ref Sequence

ENSEMBL: ENSMUSP00000149080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172230] [ENSMUST00000214143] [ENSMUST00000214858]

AlphaFold

Q7TRT9

Predicted Effect

probably benign
Transcript: ENSMUST00000172230
AA Change: H156L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: H156L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.8e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	179	9.1e-8	PFAM
Pfam:7tm_1	39	287	7.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214143
AA Change: H156L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000214858
AA Change: H156L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Meta Mutation Damage Score

0.3283

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	G	8: 25,271,647 (GRCm39)	Y587H	probably damaging	Het
Ahnak	T	C	19: 8,987,308 (GRCm39)	V2864A	probably benign	Het
Ano2	G	A	6: 125,990,280 (GRCm39)		probably null	Het
Arl5c	A	G	11: 97,883,159 (GRCm39)	I147T	probably damaging	Het
Asap2	T	A	12: 21,274,378 (GRCm39)	F369I	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,228 (GRCm39)	F38L	probably benign	Het
B230217C12Rik	TGTGTCG	TG	11: 97,733,014 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,033,532 (GRCm39)	Y1003F	probably damaging	Het
Ccdc178	A	T	18: 21,944,618 (GRCm39)	M847K	probably benign	Het
Clca4b	T	C	3: 144,621,272 (GRCm39)	K601E	probably benign	Het
Cnih4	A	G	1: 180,981,292 (GRCm39)		probably benign	Het
Cnpy3	A	T	17: 47,058,452 (GRCm39)	V57E	probably damaging	Het
Creb3l1	T	A	2: 91,832,378 (GRCm39)	E48V	probably damaging	Het
Dus3l	T	A	17: 57,075,899 (GRCm39)	F482I	probably benign	Het
Dync1i2	A	G	2: 71,064,060 (GRCm39)		probably benign	Het
Echdc1	A	G	10: 29,198,360 (GRCm39)	T102A	possibly damaging	Het
Elf1	G	A	14: 79,804,755 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,770,985 (GRCm39)	Y986C	probably benign	Het
Ep400	G	T	5: 110,851,435 (GRCm39)	T1349N	unknown	Het
Eps15	T	A	4: 109,223,419 (GRCm39)	D458E	probably benign	Het
F2rl2	G	A	13: 95,837,638 (GRCm39)	V228I	probably benign	Het
Fads3	T	G	19: 10,035,262 (GRCm39)	S438A	probably benign	Het
Fcgbp	T	A	7: 27,816,665 (GRCm39)	C2376S	probably damaging	Het
Fndc3b	A	G	3: 27,473,652 (GRCm39)	S1138P	possibly damaging	Het
Ggt5	T	C	10: 75,445,076 (GRCm39)	I361T	probably benign	Het
Gpr158	C	T	2: 21,581,771 (GRCm39)	R417W	possibly damaging	Het
Gria1	A	G	11: 57,174,388 (GRCm39)	I626V	probably damaging	Het
Gys2	T	C	6: 142,402,059 (GRCm39)	E260G	probably benign	Het
Ido2	T	A	8: 25,023,776 (GRCm39)	Y354F	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,543 (GRCm39)	L66P	probably benign	Het
Kremen1	T	C	11: 5,145,012 (GRCm39)	K455E	probably damaging	Het
Krtap19-9b	T	C	16: 88,729,096 (GRCm39)	S2G	unknown	Het
Magea1	A	T	X: 153,872,093 (GRCm39)	M211K	probably benign	Het
Mtx2	G	A	2: 74,677,634 (GRCm39)		probably null	Het
Nlrp14	G	A	7: 106,781,759 (GRCm39)	V319I	probably benign	Het
Nphs1	A	T	7: 30,159,665 (GRCm39)	T33S	probably benign	Het
Or2t6	T	A	14: 14,175,203 (GRCm38)	N293I	probably damaging	Het
Or3a1c	A	T	11: 74,046,466 (GRCm39)	H162L	probably damaging	Het
P2rx7	A	G	5: 122,819,329 (GRCm39)	T584A	probably benign	Het
Pclo	A	G	5: 14,571,692 (GRCm39)	Q359R	probably damaging	Het
Phtf2	T	C	5: 20,970,802 (GRCm39)	E147G	probably damaging	Het
Ptges2	G	A	2: 32,286,488 (GRCm39)	A68T	probably benign	Het
Rab33b	A	T	3: 51,401,069 (GRCm39)	N181I	possibly damaging	Het
Rnf213	A	T	11: 119,359,718 (GRCm39)	R4370S	probably benign	Het
Rpf1	G	A	3: 146,213,390 (GRCm39)	R254W	probably damaging	Het
Serpinb7	A	T	1: 107,363,081 (GRCm39)	R82*	probably null	Het
Setbp1	A	G	18: 78,900,650 (GRCm39)	S1006P	probably damaging	Het
Spata31d1a	T	C	13: 59,849,180 (GRCm39)	S983G	probably benign	Het
Ssr2	T	C	3: 88,487,323 (GRCm39)	I46T	probably damaging	Het
Ssx2ip	G	A	3: 146,124,138 (GRCm39)	G51D	probably benign	Het
Synj1	A	T	16: 90,757,514 (GRCm39)	L878H	probably damaging	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tln2	C	T	9: 67,237,829 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,862 (GRCm39)	L542P	probably damaging	Het
Trp53bp2	A	G	1: 182,256,525 (GRCm39)	T32A	probably damaging	Het
Vmn1r40	A	T	6: 89,691,548 (GRCm39)	T122S	probably benign	Het
Vmn2r121	C	T	X: 123,040,849 (GRCm39)	C494Y	probably benign	Het
Vmn2r51	A	T	7: 9,833,968 (GRCm39)	Y357N	probably damaging	Het
Vmn2r55	G	T	7: 12,404,634 (GRCm39)	S256R	probably benign	Het
Vps8	A	G	16: 21,261,123 (GRCm39)	T88A	probably benign	Het
Zfp977	A	C	7: 42,229,870 (GRCm39)	N218K	probably benign	Het

Other mutations in Or12j2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02818:Or12j2	APN	7	139,916,519 (GRCm39)	missense	possibly damaging	0.90
IGL02885:Or12j2	APN	7	139,916,072 (GRCm39)	missense	possibly damaging	0.94
R1340:Or12j2	UTSW	7	139,916,038 (GRCm39)	missense	probably benign	0.10
R1711:Or12j2	UTSW	7	139,915,912 (GRCm39)	missense	possibly damaging	0.55
R1860:Or12j2	UTSW	7	139,916,132 (GRCm39)	missense	possibly damaging	0.78
R2042:Or12j2	UTSW	7	139,915,850 (GRCm39)	missense	probably damaging	1.00
R2072:Or12j2	UTSW	7	139,916,566 (GRCm39)	missense	possibly damaging	0.85
R2128:Or12j2	UTSW	7	139,916,342 (GRCm39)	missense	probably damaging	1.00
R2347:Or12j2	UTSW	7	139,916,060 (GRCm39)	missense	probably damaging	0.98
R2449:Or12j2	UTSW	7	139,916,345 (GRCm39)	missense	probably benign
R2973:Or12j2	UTSW	7	139,916,300 (GRCm39)	missense	probably damaging	1.00
R4320:Or12j2	UTSW	7	139,916,219 (GRCm39)	missense	possibly damaging	0.94
R5561:Or12j2	UTSW	7	139,916,065 (GRCm39)	nonsense	probably null
R5566:Or12j2	UTSW	7	139,915,980 (GRCm39)	missense	probably damaging	1.00
R5891:Or12j2	UTSW	7	139,916,513 (GRCm39)	missense	probably benign	0.06
R7227:Or12j2	UTSW	7	139,915,534 (GRCm39)	start gained	probably benign
R7296:Or12j2	UTSW	7	139,916,654 (GRCm39)	missense	possibly damaging	0.91
R7568:Or12j2	UTSW	7	139,915,895 (GRCm39)	missense	probably damaging	1.00
R8000:Or12j2	UTSW	7	139,916,255 (GRCm39)	missense	possibly damaging	0.61
R8171:Or12j2	UTSW	7	139,916,143 (GRCm39)	missense	probably damaging	1.00
R8203:Or12j2	UTSW	7	139,915,939 (GRCm39)	missense	probably benign	0.14
R8351:Or12j2	UTSW	7	139,916,518 (GRCm39)	missense	probably damaging	1.00
R8451:Or12j2	UTSW	7	139,916,518 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTGGACAGCATGATGACAGG -3'
(R):5'- GGATTGTCACAGAGAAGTTCCC -3'

Sequencing Primer
(F):5'- TGATGACAGGAAGGACCATCTCTTAC -3'
(R):5'- GATTGTCACAGAGAAGTTCCCTACAG -3'

Posted On

2015-02-05