Mutagenetix > Incidental Mutation

Incidental Mutation 'R0089:Or11j4'

20091

Institutional Source

Beutler Lab

Gene Symbol

Or11j4

Ensembl Gene

ENSMUSG00000047716

Gene Name

olfactory receptor family 11 subfamily J member 4

Synonyms

GA_x6K02T2PMLR-6089963-6090901, MOR106-5, Olfr736

MMRRC Submission

038376-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0089 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

50630215-50631153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50630321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 36 (I36T)

Ref Sequence

ENSEMBL: ENSMUSP00000149654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058965] [ENSMUST00000213402] [ENSMUST00000213755] [ENSMUST00000215227] [ENSMUST00000215263]

AlphaFold

Q8VFT6

Predicted Effect

probably benign
Transcript: ENSMUST00000058965
AA Change: I36T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062700
Gene: ENSMUSG00000047716
AA Change: I36T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.5e-45	PFAM
Pfam:7TM_GPCR_Srsx	37	175	6.9e-7	PFAM
Pfam:7tm_1	43	294	4.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213402
AA Change: I36T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213755
AA Change: I36T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215227
AA Change: I36T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215263
AA Change: I36T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,303 (GRCm39)	H163L	probably benign	Het
Abca13	T	A	11: 9,242,886 (GRCm39)	V1583E	possibly damaging	Het
Ablim1	G	T	19: 57,031,463 (GRCm39)	S654Y	probably damaging	Het
Acbd4	T	C	11: 102,994,819 (GRCm39)	F59S	probably damaging	Het
Acot1	T	C	12: 84,063,708 (GRCm39)	I272T	probably damaging	Het
Ankhd1	A	G	18: 36,773,409 (GRCm39)	D1402G	probably damaging	Het
Birc6	T	A	17: 74,945,371 (GRCm39)	F2800I	possibly damaging	Het
Brd1	T	C	15: 88,585,401 (GRCm39)	E811G	probably benign	Het
Catspere2	C	T	1: 177,874,555 (GRCm39)	P141S	unknown	Het
Ccdc106	A	G	7: 5,059,220 (GRCm39)		probably null	Het
Ccdc81	G	T	7: 89,542,324 (GRCm39)	A184E	possibly damaging	Het
Cenpt	T	C	8: 106,573,000 (GRCm39)	T364A	probably benign	Het
Crybg2	T	C	4: 133,808,505 (GRCm39)	S1060P	probably damaging	Het
Dnttip2	A	G	3: 122,069,111 (GRCm39)	T109A	possibly damaging	Het
Dpy19l2	A	G	9: 24,607,089 (GRCm39)	L124P	probably benign	Het
Eif1ad19	A	T	12: 87,740,283 (GRCm39)	I92N	probably damaging	Het
Fat3	T	C	9: 15,849,501 (GRCm39)	D3967G	probably benign	Het
Fbxo21	T	A	5: 118,146,208 (GRCm39)	F610L	probably benign	Het
Fmo9	T	C	1: 166,494,878 (GRCm39)	D341G	probably benign	Het
Frem3	A	T	8: 81,342,507 (GRCm39)	H1600L	possibly damaging	Het
Fry	A	T	5: 150,263,892 (GRCm39)	K133N	possibly damaging	Het
Gm10647	A	G	9: 66,705,612 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,906,119 (GRCm39)	F472S	probably benign	Het
Grb10	T	C	11: 11,884,192 (GRCm39)		probably benign	Het
Grm6	G	A	11: 50,750,792 (GRCm39)	G652S	probably damaging	Het
Heca	G	T	10: 17,783,848 (GRCm39)	D468E	probably damaging	Het
Heg1	C	T	16: 33,583,985 (GRCm39)	S1033L	probably damaging	Het
Hepacam2	A	G	6: 3,487,094 (GRCm39)	S12P	probably damaging	Het
Impdh1	G	T	6: 29,206,325 (GRCm39)	H195N	probably benign	Het
Ipo7	T	C	7: 109,649,972 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,251,520 (GRCm39)		probably null	Het
Kcnh6	G	A	11: 105,899,848 (GRCm39)	C39Y	probably benign	Het
Kif26a	T	C	12: 112,143,837 (GRCm39)	S1364P	probably damaging	Het
Lins1	T	A	7: 66,361,796 (GRCm39)		probably benign	Het
Lrpap1	C	T	5: 35,252,232 (GRCm39)	V328M	possibly damaging	Het
Lyn	T	G	4: 3,748,768 (GRCm39)	L249V	probably benign	Het
Mpp7	A	G	18: 7,439,555 (GRCm39)		probably benign	Het
Mtmr9	A	G	14: 63,765,696 (GRCm39)	F400L	possibly damaging	Het
Mto1	G	A	9: 78,381,154 (GRCm39)	S666N	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nsg1	T	C	5: 38,312,974 (GRCm39)	E75G	probably benign	Het
Nsun4	A	G	4: 115,892,970 (GRCm39)	M283T	probably benign	Het
Obscn	A	G	11: 58,890,888 (GRCm39)	S7215P	unknown	Het
Or13a20	T	C	7: 140,232,224 (GRCm39)	S111P	probably damaging	Het
Or1j12	G	A	2: 36,343,107 (GRCm39)	R170K	probably benign	Het
Or2y13	G	A	11: 49,415,033 (GRCm39)	S161N	possibly damaging	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5al1	A	C	2: 85,989,918 (GRCm39)	S265R	possibly damaging	Het
Or9m1b	T	C	2: 87,836,331 (GRCm39)	I264V	probably damaging	Het
Per1	T	C	11: 68,994,869 (GRCm39)	F563S	probably benign	Het
Pik3c3	T	A	18: 30,436,131 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,605,675 (GRCm39)	K207N	probably damaging	Het
Prdm10	C	T	9: 31,227,526 (GRCm39)	R44C	probably damaging	Het
Rab40c	A	T	17: 26,104,122 (GRCm39)	I90N	probably damaging	Het
Rbl1	A	G	2: 157,041,334 (GRCm39)		probably null	Het
Rnf17	G	A	14: 56,751,563 (GRCm39)	G1467E	probably damaging	Het
Rpgrip1	A	G	14: 52,386,841 (GRCm39)		probably benign	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Scap	T	C	9: 110,201,290 (GRCm39)	I93T	possibly damaging	Het
Sez6	T	C	11: 77,865,170 (GRCm39)		probably benign	Het
Slc22a30	A	T	19: 8,347,561 (GRCm39)	S280T	probably benign	Het
Slc26a5	A	C	5: 22,016,342 (GRCm39)		probably null	Het
St18	T	C	1: 6,919,172 (GRCm39)	V901A	probably benign	Het
Syne2	T	C	12: 76,010,650 (GRCm39)	L2519P	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tmem51	T	C	4: 141,759,236 (GRCm39)	T171A	probably benign	Het
Tns4	A	T	11: 98,966,024 (GRCm39)	I453N	probably damaging	Het
Trank1	A	T	9: 111,221,978 (GRCm39)	H2905L	probably benign	Het
Trim13	C	T	14: 61,842,166 (GRCm39)	T61I	possibly damaging	Het
Trim75	T	C	8: 65,435,580 (GRCm39)	Q290R	possibly damaging	Het
Ttn	C	A	2: 76,559,544 (GRCm39)	R29619L	probably damaging	Het
Ugt2b38	T	A	5: 87,568,417 (GRCm39)	M293L	probably benign	Het
Vmn1r22	T	A	6: 57,877,513 (GRCm39)	N155Y	probably benign	Het
Vmn2r18	T	C	5: 151,508,269 (GRCm39)	Y285C	probably benign	Het
Vmn2r84	C	T	10: 130,222,588 (GRCm39)		probably benign	Het
Vwde	A	C	6: 13,220,004 (GRCm39)	L49R	probably damaging	Het
Yipf2	T	A	9: 21,503,262 (GRCm39)	E68D	possibly damaging	Het
Zfand5	C	A	19: 21,257,122 (GRCm39)		probably benign	Het

Other mutations in Or11j4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01765:Or11j4	APN	14	50,630,291 (GRCm39)	missense	probably benign	0.33
IGL01952:Or11j4	APN	14	50,630,860 (GRCm39)	missense	probably benign	0.02
IGL01996:Or11j4	APN	14	50,631,116 (GRCm39)	missense	probably damaging	0.99
IGL02694:Or11j4	APN	14	50,630,257 (GRCm39)	missense	probably benign	0.02
IGL02717:Or11j4	APN	14	50,631,104 (GRCm39)	missense	probably damaging	1.00
IGL03185:Or11j4	APN	14	50,630,855 (GRCm39)	missense	probably damaging	0.99
IGL03218:Or11j4	APN	14	50,631,115 (GRCm39)	missense	probably damaging	0.98
IGL03048:Or11j4	UTSW	14	50,630,245 (GRCm39)	missense	possibly damaging	0.47
R0066:Or11j4	UTSW	14	50,630,659 (GRCm39)	missense	probably benign	0.08
R0066:Or11j4	UTSW	14	50,630,659 (GRCm39)	missense	probably benign	0.08
R0254:Or11j4	UTSW	14	50,630,536 (GRCm39)	missense	probably damaging	0.99
R0284:Or11j4	UTSW	14	50,630,452 (GRCm39)	missense	probably damaging	1.00
R1800:Or11j4	UTSW	14	50,630,786 (GRCm39)	nonsense	probably null
R3885:Or11j4	UTSW	14	50,630,326 (GRCm39)	missense	probably benign	0.05
R4302:Or11j4	UTSW	14	50,630,903 (GRCm39)	missense	probably benign	0.23
R4452:Or11j4	UTSW	14	50,630,369 (GRCm39)	missense	probably benign
R4705:Or11j4	UTSW	14	50,630,257 (GRCm39)	missense	probably benign	0.02
R5340:Or11j4	UTSW	14	50,630,677 (GRCm39)	missense	probably damaging	0.98
R6007:Or11j4	UTSW	14	50,630,948 (GRCm39)	missense	probably damaging	1.00
R6338:Or11j4	UTSW	14	50,630,857 (GRCm39)	missense	possibly damaging	0.47
R6358:Or11j4	UTSW	14	50,630,845 (GRCm39)	missense	possibly damaging	0.78
R6521:Or11j4	UTSW	14	50,631,005 (GRCm39)	missense	possibly damaging	0.95
R6527:Or11j4	UTSW	14	50,630,885 (GRCm39)	nonsense	probably null
R6777:Or11j4	UTSW	14	50,631,115 (GRCm39)	missense	probably damaging	0.98
R6903:Or11j4	UTSW	14	50,631,089 (GRCm39)	missense	possibly damaging	0.48
R8899:Or11j4	UTSW	14	50,630,269 (GRCm39)	missense	probably damaging	0.99
X0026:Or11j4	UTSW	14	50,630,998 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ACAAGATTACCCTTGCCAGACATTTCTC -3'
(R):5'- GCGGCAGATTGCCAGGAACC -3'

Sequencing Primer
(F):5'- GATTCACTGACCTATACCCTGGAATG -3'
(R):5'- AGACATTCAGTTGTGCCCAG -3'

Posted On

2013-04-11