Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01996:Or11j4'

182917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or11j4

Ensembl Gene

ENSMUSG00000047716

Gene Name

olfactory receptor family 11 subfamily J member 4

Synonyms

GA_x6K02T2PMLR-6089963-6090901, MOR106-5, Olfr736

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL01996

Quality Score

Status

Chromosome

Chromosomal Location

50630215-50631153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50631116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 301 (M301R)

Ref Sequence

ENSEMBL: ENSMUSP00000149654 (fasta)

Gene Model

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

AlphaFold

Q8VFT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058965
AA Change: M301R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062700
Gene: ENSMUSG00000047716
AA Change: M301R

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 damaging
Transcript: ENSMUST00000213402
AA Change: M301R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213755
AA Change: M301R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215227
AA Change: M301R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215263
AA Change: M301R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,078,430 (GRCm39)	V29A	possibly damaging	Het
Adarb1	A	G	10: 77,158,051 (GRCm39)	L132P	probably damaging	Het
Afg3l1	T	G	8: 124,228,633 (GRCm39)	M733R	probably damaging	Het
Aox1	C	T	1: 58,121,225 (GRCm39)	R899C	probably benign	Het
Arhgap44	T	A	11: 64,896,322 (GRCm39)		probably benign	Het
Asns	T	C	6: 7,682,378 (GRCm39)	D189G	possibly damaging	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Ccdc138	T	A	10: 58,397,852 (GRCm39)	L564H	probably damaging	Het
Ccdc167	A	G	17: 29,924,461 (GRCm39)		probably null	Het
Ccdc178	A	G	18: 22,230,813 (GRCm39)	Y353H	probably damaging	Het
Clca3b	A	T	3: 144,554,924 (GRCm39)	S41R	probably benign	Het
Dpep3	T	C	8: 106,701,358 (GRCm39)	N397S	probably damaging	Het
Eif1	T	C	11: 100,211,826 (GRCm39)	I83T	probably benign	Het
Enah	A	T	1: 181,784,070 (GRCm39)	W80R	unknown	Het
F2rl1	C	T	13: 95,650,432 (GRCm39)	C150Y	probably damaging	Het
Fbxw24	T	C	9: 109,434,440 (GRCm39)	R387G	possibly damaging	Het
Fsd1l	A	G	4: 53,647,760 (GRCm39)	T68A	probably benign	Het
Greb1	T	C	12: 16,740,846 (GRCm39)	K1412R	possibly damaging	Het
Grin2b	T	C	6: 135,709,584 (GRCm39)	S1321G	probably damaging	Het
H4c11	G	A	13: 21,919,308 (GRCm39)	G15S	unknown	Het
Itgb7	C	T	15: 102,126,412 (GRCm39)	G508D	probably damaging	Het
Kcnq3	A	G	15: 65,895,545 (GRCm39)	I333T	probably damaging	Het
Knl1	A	G	2: 118,934,542 (GRCm39)	D2115G	probably damaging	Het
Lmtk3	G	A	7: 45,442,871 (GRCm39)		probably null	Het
Lrpprc	A	G	17: 85,080,698 (GRCm39)	Y176H	probably benign	Het
Mier1	T	C	4: 102,984,473 (GRCm39)	S22P	possibly damaging	Het
Mme	A	T	3: 63,250,970 (GRCm39)	N337I	probably benign	Het
Mthfd1	A	G	12: 76,350,679 (GRCm39)	Y687C	probably damaging	Het
Nrp2	T	C	1: 62,788,419 (GRCm39)	M373T	probably damaging	Het
Nudcd1	A	T	15: 44,269,357 (GRCm39)	F101Y	probably benign	Het
Nup133	T	A	8: 124,673,334 (GRCm39)	I66L	probably benign	Het
Or10j7	T	C	1: 173,011,294 (GRCm39)	T236A	probably benign	Het
Or1e19	T	A	11: 73,316,794 (GRCm39)	N5I	probably damaging	Het
Osbpl5	A	G	7: 143,261,081 (GRCm39)		probably null	Het
Paqr8	T	C	1: 21,005,628 (GRCm39)	F261L	probably damaging	Het
Plxna2	A	G	1: 194,482,084 (GRCm39)	E1452G	probably damaging	Het
Polh	T	C	17: 46,483,927 (GRCm39)	D446G	probably benign	Het
Psg19	A	T	7: 18,523,986 (GRCm39)	M353K	possibly damaging	Het
Sap25	T	C	5: 137,640,080 (GRCm39)		probably null	Het
Sap30l	C	T	11: 57,700,777 (GRCm39)	R144*	probably null	Het
Sema6b	C	T	17: 56,438,157 (GRCm39)	V144M	probably damaging	Het
Sfmbt2	T	C	2: 10,444,837 (GRCm39)	Y228H	probably benign	Het
Shank2	A	G	7: 143,965,230 (GRCm39)	D946G	probably damaging	Het
Slc11a1	T	A	1: 74,415,965 (GRCm39)	L52Q	possibly damaging	Het
Sptlc3	T	C	2: 139,423,424 (GRCm39)		probably benign	Het
Tgfb1i1	T	C	7: 127,848,464 (GRCm39)		probably benign	Het
Tifa	T	C	3: 127,590,229 (GRCm39)		probably benign	Het
Tomm40l	C	T	1: 171,047,224 (GRCm39)	V265M	possibly damaging	Het
Trim45	C	A	3: 100,835,425 (GRCm39)	Y469*	probably null	Het
Ttc21a	G	T	9: 119,787,182 (GRCm39)	A730S	probably damaging	Het
Vmn1r18	A	T	6: 57,367,001 (GRCm39)	D184E	possibly damaging	Het
Vmn2r120	A	T	17: 57,832,222 (GRCm39)	I189N	possibly damaging	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
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
R0089:Or11j4	UTSW	14	50,630,321 (GRCm39)	missense	probably benign
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

Posted On

2014-05-07