Mutagenetix > Incidental Mutation

Incidental Mutation 'R7465:Or12j4'

578709

Institutional Source

Beutler Lab

Gene Symbol

Or12j4

Ensembl Gene

ENSMUSG00000056883

Gene Name

olfactory receptor family 12 subfamily J member 4

Synonyms

MOR252-3P, Olfr533, GA_x6K02T2PBJ9-42615403-42616365

MMRRC Submission

045539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R7465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140046116-140047078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140046711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 199 (V199D)

Ref Sequence

ENSEMBL: ENSMUSP00000148260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071755] [ENSMUST00000211093] [ENSMUST00000215308] [ENSMUST00000216258] [ENSMUST00000217179]

AlphaFold

Q7TRT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071755
AA Change: V199D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071667
Gene: ENSMUSG00000056883
AA Change: V199D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	7.3e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	304	3e-6	PFAM
Pfam:7tm_1	41	289	5.6e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211093
AA Change: V199D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215308
AA Change: V199D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216258
AA Change: V199D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217179
AA Change: V199D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	T	13: 30,565,964 (GRCm39)	D343V	probably benign	Het
Anks1	G	A	17: 28,273,297 (GRCm39)	R972Q	possibly damaging	Het
Atp2a2	T	C	5: 122,599,763 (GRCm39)	K543E	probably benign	Het
Atp8b5	G	A	4: 43,271,269 (GRCm39)	V4I	probably benign	Het
Bcar3	A	T	3: 122,316,879 (GRCm39)	N617Y	probably benign	Het
Blm	A	G	7: 80,162,863 (GRCm39)	S163P	probably benign	Het
Cbx3	A	G	6: 51,455,510 (GRCm39)	D87G	probably benign	Het
Celsr1	A	G	15: 85,917,593 (GRCm39)	S127P	probably benign	Het
Cndp1	A	T	18: 84,637,666 (GRCm39)	M356K	probably damaging	Het
Cnn2	G	A	10: 79,828,361 (GRCm39)	E113K	probably damaging	Het
Col17a1	T	A	19: 47,656,544 (GRCm39)	R573*	probably null	Het
Cttnbp2	T	A	6: 18,501,991 (GRCm39)	E49V	probably damaging	Het
Dipk1a	T	C	5: 108,057,550 (GRCm39)	D336G	probably damaging	Het
Dynlrb2	T	A	8: 117,241,696 (GRCm39)	V80E	possibly damaging	Het
Ehbp1	A	G	11: 22,088,001 (GRCm39)	V386A	probably benign	Het
Elfn1	C	T	5: 139,957,842 (GRCm39)	P282L	probably benign	Het
Fan1	G	A	7: 64,003,386 (GRCm39)	T812I	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat1	G	A	8: 45,497,189 (GRCm39)	V4225I	probably benign	Het
Frem1	A	G	4: 82,833,072 (GRCm39)	C1873R	probably benign	Het
Fsd1l	T	C	4: 53,647,755 (GRCm39)	I66T	probably benign	Het
Gabrr1	C	A	4: 33,146,970 (GRCm39)	D52E	probably benign	Het
Il18rap	T	C	1: 40,582,249 (GRCm39)	L390P	probably damaging	Het
Il27ra	T	A	8: 84,766,241 (GRCm39)	D181V	probably benign	Het
Irgq	C	A	7: 24,233,834 (GRCm39)	H558Q	probably damaging	Het
Itsn2	C	T	12: 4,756,983 (GRCm39)	Q1358*	probably null	Het
Kmt2c	C	T	5: 25,507,847 (GRCm39)	G3197S	probably damaging	Het
Lrrk2	A	G	15: 91,651,543 (GRCm39)	Y1733C	probably damaging	Het
Mapk7	G	A	11: 61,381,279 (GRCm39)	A510V	probably damaging	Het
Mtch1	A	T	17: 29,551,698 (GRCm39)	C385S	probably benign	Het
Nfib	A	G	4: 82,271,758 (GRCm39)		probably null	Het
Nostrin	C	T	2: 69,015,851 (GRCm39)	T448M	possibly damaging	Het
Or4c12b	T	C	2: 89,646,880 (GRCm39)	L64P	probably damaging	Het
Or52e18	A	G	7: 104,609,124 (GRCm39)	Y272H	probably benign	Het
Or5a3	T	A	19: 12,400,509 (GRCm39)	Y279N	probably damaging	Het
Or5an10	T	C	19: 12,275,801 (GRCm39)	I232V	probably benign	Het
Or8k28	A	G	2: 86,286,150 (GRCm39)	V155A	probably benign	Het
Pcdha2	T	C	18: 37,073,383 (GRCm39)	V338A	probably damaging	Het
Pcdhgc3	A	G	18: 37,940,798 (GRCm39)	T400A	probably benign	Het
Piezo2	C	T	18: 63,145,794 (GRCm39)	S2710N	probably benign	Het
Ppp4r1	T	A	17: 66,138,015 (GRCm39)	Y591*	probably null	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rab42	T	C	4: 132,029,925 (GRCm39)	E99G	possibly damaging	Het
Rd3l	A	T	12: 111,945,916 (GRCm39)	W188R	probably damaging	Het
Sap30bp	A	G	11: 115,842,794 (GRCm39)	D89G	probably benign	Het
Sptbn4	T	C	7: 27,066,114 (GRCm39)	T1985A	probably benign	Het
Tec	T	C	5: 72,931,223 (GRCm39)	Y247C	probably damaging	Het
Tek	G	A	4: 94,716,063 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,405,256 (GRCm39)	S723P	possibly damaging	Het
Thumpd3	T	A	6: 113,024,592 (GRCm39)	L62Q	probably damaging	Het
Tlr12	A	T	4: 128,509,963 (GRCm39)	D762E	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Txndc16	T	A	14: 45,402,845 (GRCm39)	I316F	probably damaging	Het
Vamp1	T	C	6: 125,195,538 (GRCm39)	S2P	unknown	Het
Vmn1r211	T	A	13: 23,036,086 (GRCm39)	M194L	probably benign	Het
Zfp874a	T	A	13: 67,590,376 (GRCm39)	Q436L	probably damaging	Het

Other mutations in Or12j4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Or12j4	APN	7	140,046,292 (GRCm39)	missense	probably damaging	0.99
IGL02582:Or12j4	APN	7	140,046,560 (GRCm39)	missense	probably benign
IGL02954:Or12j4	APN	7	140,046,353 (GRCm39)	nonsense	probably null
R0790:Or12j4	UTSW	7	140,046,962 (GRCm39)	missense	possibly damaging	0.79
R1754:Or12j4	UTSW	7	140,046,773 (GRCm39)	missense	probably damaging	1.00
R1965:Or12j4	UTSW	7	140,046,574 (GRCm39)	missense	probably benign
R2155:Or12j4	UTSW	7	140,046,504 (GRCm39)	missense	probably benign	0.13
R4613:Or12j4	UTSW	7	140,046,981 (GRCm39)	missense	probably damaging	1.00
R4836:Or12j4	UTSW	7	140,046,989 (GRCm39)	missense	probably damaging	1.00
R5493:Or12j4	UTSW	7	140,046,720 (GRCm39)	missense	probably damaging	1.00
R5694:Or12j4	UTSW	7	140,046,644 (GRCm39)	missense	probably benign	0.28
R6101:Or12j4	UTSW	7	140,046,432 (GRCm39)	missense	probably benign	0.31
R6156:Or12j4	UTSW	7	140,046,758 (GRCm39)	missense	probably benign
R6519:Or12j4	UTSW	7	140,046,458 (GRCm39)	missense	probably benign	0.01
R6672:Or12j4	UTSW	7	140,046,648 (GRCm39)	missense	probably damaging	1.00
R6736:Or12j4	UTSW	7	140,046,834 (GRCm39)	missense	probably damaging	1.00
R6736:Or12j4	UTSW	7	140,046,800 (GRCm39)	missense	probably damaging	1.00
R7086:Or12j4	UTSW	7	140,046,341 (GRCm39)	missense	possibly damaging	0.89
R7174:Or12j4	UTSW	7	140,047,076 (GRCm39)	makesense	probably null
R7486:Or12j4	UTSW	7	140,045,947 (GRCm39)	start gained	probably benign
R7872:Or12j4	UTSW	7	140,046,696 (GRCm39)	missense	probably damaging	1.00
R9013:Or12j4	UTSW	7	140,046,179 (GRCm39)	missense	probably benign
R9014:Or12j4	UTSW	7	140,045,883 (GRCm39)	start gained	probably benign
R9255:Or12j4	UTSW	7	140,046,423 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCTTGCAACCTTTGTGTGG -3'
(R):5'- GAACAGCAATGAGTTTGTCCAG -3'

Sequencing Primer
(F):5'- GGTTCACTGGAGCTTTCAATTC -3'
(R):5'- ATGAGTTTGTCCAGGAACCC -3'

Posted On

2019-10-07