Mutagenetix > Incidental Mutation

Incidental Mutation 'R0634:Or12j3'

58150

Institutional Source

Beutler Lab

Gene Symbol

Or12j3

Ensembl Gene

ENSMUSG00000060974

Gene Name

olfactory receptor family 12 subfamily J member 3

Synonyms

Olfr530, GA_x6K02T2PBJ9-42523824-42522901, MOR252-2

MMRRC Submission

038823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139952598-139953521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139953310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 71 (V71E)

Ref Sequence

ENSEMBL: ENSMUSP00000149475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074177] [ENSMUST00000216727]

AlphaFold

Q8VFE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074177
AA Change: V71E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: V71E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	4.8e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.8e-6	PFAM
Pfam:7tm_1	41	289	1.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211097

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216727
AA Change: V71E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (62/63)

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
Abca13	A	G	11: 9,264,491 (GRCm39)	I2958V	possibly damaging	Het
Adam21	C	A	12: 81,607,126 (GRCm39)	W212L	probably benign	Het
Adcy2	A	C	13: 68,876,064 (GRCm39)	H479Q	possibly damaging	Het
Adcy4	T	C	14: 56,019,054 (GRCm39)	R168G	probably benign	Het
Adrm1b	C	T	3: 92,336,116 (GRCm39)	W125*	probably null	Het
Atp13a2	T	C	4: 140,734,240 (GRCm39)		probably benign	Het
C1ra	G	A	6: 124,494,464 (GRCm39)	E304K	possibly damaging	Het
Cc2d2a	A	C	5: 43,838,723 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,952,588 (GRCm39)	L1426P	probably damaging	Het
Cntn1	A	T	15: 92,212,444 (GRCm39)	R869*	probably null	Het
Creb3l2	A	T	6: 37,311,283 (GRCm39)		probably benign	Het
Crybg2	G	A	4: 133,802,615 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,276,405 (GRCm39)	F800I	probably damaging	Het
Dock6	G	A	9: 21,752,823 (GRCm39)	T330I	probably damaging	Het
Ets2	G	A	16: 95,517,200 (GRCm39)	E311K	possibly damaging	Het
Fbxo22	A	T	9: 55,122,244 (GRCm39)	Q141L	probably benign	Het
Fer	C	T	17: 64,342,503 (GRCm39)	T223M	probably benign	Het
Gtf3c1	A	T	7: 125,256,649 (GRCm39)		probably benign	Het
Gtf3c2	G	A	5: 31,317,150 (GRCm39)	R684*	probably null	Het
Hs6st3	T	A	14: 120,106,474 (GRCm39)	L294*	probably null	Het
Ighg2c	T	G	12: 113,251,584 (GRCm39)	E181A	unknown	Het
Igkv6-15	A	T	6: 70,383,763 (GRCm39)		probably benign	Het
Irag2	A	T	6: 145,120,354 (GRCm39)	H523L	probably damaging	Het
Map2k6	C	T	11: 110,385,169 (GRCm39)	R178*	probably null	Het
Meikin	T	A	11: 54,281,309 (GRCm39)	D126E	probably benign	Het
Mgst1	A	T	6: 138,133,329 (GRCm39)	T37S	probably damaging	Het
Mrc2	G	A	11: 105,238,518 (GRCm39)	V1222M	probably benign	Het
Myom2	C	A	8: 15,169,216 (GRCm39)		probably benign	Het
Negr1	A	G	3: 156,721,903 (GRCm39)	K159R	possibly damaging	Het
Nptx1	T	C	11: 119,434,127 (GRCm39)	T320A	possibly damaging	Het
Or4p21	A	T	2: 88,276,961 (GRCm39)	M107K	probably benign	Het
Or5p66	T	C	7: 107,885,503 (GRCm39)	I277V	probably benign	Het
Pes1	C	T	11: 3,927,794 (GRCm39)		probably benign	Het
Pes1	T	G	11: 3,927,795 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,187,698 (GRCm39)	Y3537N	probably damaging	Het
Poteg	G	A	8: 27,963,615 (GRCm39)	G289R	probably benign	Het
Pramel29	A	G	4: 143,935,910 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,172,693 (GRCm39)	R59G	probably damaging	Het
Reln	A	T	5: 22,223,867 (GRCm39)	W961R	probably damaging	Het
Rhot2	G	A	17: 26,061,002 (GRCm39)	H168Y	possibly damaging	Het
Ripk3	G	T	14: 56,025,848 (GRCm39)		probably benign	Het
Samm50	A	G	15: 84,098,372 (GRCm39)		silent	Het
Sap30bp	T	C	11: 115,848,229 (GRCm39)	I117T	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sipa1l2	A	T	8: 126,149,363 (GRCm39)	L1632*	probably null	Het
Sirt7	T	C	11: 120,512,955 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,976,934 (GRCm39)	T216A	possibly damaging	Het
Sox9	A	G	11: 112,675,768 (GRCm39)	Y319C	probably damaging	Het
Sspn	G	A	6: 145,906,877 (GRCm39)	A27T	possibly damaging	Het
Suco	A	G	1: 161,666,373 (GRCm39)	V509A	possibly damaging	Het
Svep1	C	T	4: 58,070,661 (GRCm39)	C2375Y	possibly damaging	Het
Trbv21	T	A	6: 41,179,984 (GRCm39)		probably benign	Het
Uimc1	C	T	13: 55,208,079 (GRCm39)	E455K	possibly damaging	Het
Upk3b	A	G	5: 136,068,930 (GRCm39)	T100A	possibly damaging	Het
Usp47	A	G	7: 111,707,862 (GRCm39)	N1303D	probably damaging	Het
Vav1	A	T	17: 57,610,862 (GRCm39)	D476V	probably benign	Het
Vmn1r68	A	G	7: 10,261,162 (GRCm39)	V312A	probably benign	Het
Wdr62	A	G	7: 29,969,599 (GRCm39)	V287A	probably damaging	Het
Zcchc4	C	T	5: 52,940,550 (GRCm39)	P40S	probably benign	Het
Zfp326	T	A	5: 106,034,069 (GRCm39)	Y26*	probably null	Het
Zfp592	A	G	7: 80,687,819 (GRCm39)	H915R	probably damaging	Het

Other mutations in Or12j3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Or12j3	APN	7	139,953,098 (GRCm39)	missense	probably benign	0.01
IGL01785:Or12j3	APN	7	139,953,038 (GRCm39)	missense	probably benign
IGL01786:Or12j3	APN	7	139,953,038 (GRCm39)	missense	probably benign
IGL03087:Or12j3	APN	7	139,953,005 (GRCm39)	missense	probably damaging	1.00
R0543:Or12j3	UTSW	7	139,953,307 (GRCm39)	missense	probably benign	0.07
R1470:Or12j3	UTSW	7	139,953,026 (GRCm39)	missense	probably benign	0.03
R1470:Or12j3	UTSW	7	139,953,026 (GRCm39)	missense	probably benign	0.03
R1553:Or12j3	UTSW	7	139,952,951 (GRCm39)	missense	probably damaging	1.00
R1702:Or12j3	UTSW	7	139,952,655 (GRCm39)	nonsense	probably null
R1767:Or12j3	UTSW	7	139,953,389 (GRCm39)	missense	possibly damaging	0.95
R2379:Or12j3	UTSW	7	139,952,748 (GRCm39)	nonsense	probably null
R4243:Or12j3	UTSW	7	139,952,857 (GRCm39)	missense	probably benign	0.01
R4281:Or12j3	UTSW	7	139,953,385 (GRCm39)	missense	probably benign	0.10
R4717:Or12j3	UTSW	7	139,953,328 (GRCm39)	missense	probably damaging	0.99
R4923:Or12j3	UTSW	7	139,952,920 (GRCm39)	missense	probably benign	0.11
R5763:Or12j3	UTSW	7	139,953,568 (GRCm39)	critical splice acceptor site	probably null
R6126:Or12j3	UTSW	7	139,953,166 (GRCm39)	missense	probably damaging	1.00
R6528:Or12j3	UTSW	7	139,953,354 (GRCm39)	missense	possibly damaging	0.81
R7469:Or12j3	UTSW	7	139,953,050 (GRCm39)	missense	possibly damaging	0.93
R8081:Or12j3	UTSW	7	139,952,972 (GRCm39)	missense	probably damaging	1.00
R8881:Or12j3	UTSW	7	139,952,698 (GRCm39)	missense	probably benign	0.01
R8922:Or12j3	UTSW	7	139,953,389 (GRCm39)	missense	possibly damaging	0.88
R9161:Or12j3	UTSW	7	139,952,989 (GRCm39)	missense	probably damaging	1.00
R9389:Or12j3	UTSW	7	139,952,930 (GRCm39)	missense	probably benign	0.02
Z1177:Or12j3	UTSW	7	139,952,716 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- ACAAAGGTTGCAAGGGCCACAC -3'
(R):5'- TGCAAAGGTTTGTTGATGACCCCTG -3'

Sequencing Primer
(F):5'- CATGAGGGTGCCATAGTGC -3'
(R):5'- CTGATCATCGCAACCATCCA -3'

Posted On

2013-07-11