Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03218:Or11j4'

413534

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: 0.118) question?

Stock #

IGL03218

Quality Score

Status

Chromosome

Chromosomal Location

50630215-50631153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50631115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 301 (M301L)

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: M301L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062700
Gene: ENSMUSG00000047716
AA Change: M301L

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: M301L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213755
AA Change: M301L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215227
AA Change: M301L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215263
AA Change: M301L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.3058

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,561,727 (GRCm39)		probably null	Het
Acot9	T	A	X: 154,078,207 (GRCm39)	V251E	possibly damaging	Het
Agtpbp1	A	G	13: 59,648,021 (GRCm39)	S600P	possibly damaging	Het
Amfr	A	T	8: 94,726,964 (GRCm39)	M157K	probably damaging	Het
Arvcf	T	C	16: 18,222,875 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,699,949 (GRCm39)	V1924A	possibly damaging	Het
Atp10a	T	A	7: 58,438,196 (GRCm39)		probably null	Het
Atp1a2	T	A	1: 172,116,870 (GRCm39)	E249V	probably null	Het
C1qc	A	G	4: 136,617,598 (GRCm39)	L166P	probably damaging	Het
Col4a3	C	A	1: 82,620,927 (GRCm39)		probably benign	Het
Def8	A	G	8: 124,183,175 (GRCm39)	D258G	probably damaging	Het
Dll1	T	C	17: 15,593,830 (GRCm39)	D179G	probably benign	Het
Dnah14	C	A	1: 181,582,834 (GRCm39)	H3124Q	probably benign	Het
Fabp5	T	A	3: 10,080,023 (GRCm39)		probably benign	Het
Fam133b	C	T	5: 3,604,684 (GRCm39)	Q24*	probably null	Het
Fam13c	A	C	10: 70,284,599 (GRCm39)	D25A	possibly damaging	Het
Flna	A	G	X: 73,278,208 (GRCm39)		probably null	Het
Frem1	T	A	4: 82,832,883 (GRCm39)	T1917S	probably benign	Het
Frmd4b	T	C	6: 97,285,075 (GRCm39)	T337A	probably benign	Het
Fxyd7	C	T	7: 30,743,995 (GRCm39)		probably null	Het
Galnt5	T	G	2: 57,889,401 (GRCm39)	S334A	possibly damaging	Het
Gm10220	T	C	5: 26,323,696 (GRCm39)	K117R	probably damaging	Het
Gpd2	T	A	2: 57,197,066 (GRCm39)	L207H	probably damaging	Het
H2-M10.3	T	A	17: 36,678,279 (GRCm39)	Y182F	probably damaging	Het
Itga8	T	C	2: 12,115,836 (GRCm39)	I1018V	possibly damaging	Het
Letmd1	T	C	15: 100,367,709 (GRCm39)	F89S	probably damaging	Het
Mcm3ap	A	G	10: 76,318,567 (GRCm39)	Y696C	probably damaging	Het
Mcpt9	A	G	14: 56,264,908 (GRCm39)	Y198H	probably damaging	Het
Mmp1b	A	G	9: 7,387,907 (GRCm39)	V29A	probably benign	Het
Myom1	A	G	17: 71,391,311 (GRCm39)	D940G	possibly damaging	Het
Myzap	A	G	9: 71,462,871 (GRCm39)	M225T	probably benign	Het
Naa25	A	G	5: 121,564,133 (GRCm39)	Y516C	probably damaging	Het
Nsdhl	T	A	X: 72,000,052 (GRCm39)		probably benign	Het
Olfml1	A	G	7: 107,170,476 (GRCm39)	E121G	possibly damaging	Het
Or4a72	A	G	2: 89,405,935 (GRCm39)	V45A	probably benign	Het
Or8k38	A	G	2: 86,488,703 (GRCm39)	I33T	probably benign	Het
Phex	C	T	X: 155,961,783 (GRCm39)	G636E	probably damaging	Het
Pkd2l2	A	T	18: 34,563,373 (GRCm39)	I475F	probably damaging	Het
Polr2b	T	A	5: 77,463,764 (GRCm39)	S54T	probably benign	Het
Prkx	A	T	X: 76,829,806 (GRCm39)	L85Q	probably damaging	Het
Smc1b	A	T	15: 84,973,914 (GRCm39)	I914N	probably benign	Het
Susd2	A	G	10: 75,478,459 (GRCm39)	L39P	probably benign	Het
Teddm2	C	T	1: 153,726,770 (GRCm39)	V35I	probably benign	Het
Tspo	T	A	15: 83,455,631 (GRCm39)	V6E	possibly damaging	Het
Vps41	G	T	13: 19,013,440 (GRCm39)	V353F	possibly damaging	Het
Wfdc18	T	A	11: 83,600,033 (GRCm39)		probably null	Het
Wsb1	C	T	11: 79,139,324 (GRCm39)	S124N	probably damaging	Het
Zfp445	T	C	9: 122,686,594 (GRCm39)	E177G	probably benign	Het
Zfp759	G	T	13: 67,287,480 (GRCm39)	V344L	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
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

2016-08-02