Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00918:Irag2'

27617

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irag2

Ensembl Gene

ENSMUSG00000030263

Gene Name

inositol 1,4,5-triphosphate receptor associated 2

Synonyms

Jaw1, Lrmp, D6Int7, D6Int8, D6Int5, D6Int4, D6Int3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00918

Quality Score

Status

Chromosome

Chromosomal Location

145061379-145120660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145113720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 296 (E296G)

Ref Sequence

ENSEMBL: ENSMUSP00000032396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000135984]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032396
AA Change: E296G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
AA Change: E296G

Domain	Start	End	E-Value	Type
Pfam:MRVI1	10	539	3.2e-265	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132937

Predicted Effect

unknown
Transcript: ENSMUST00000132948
AA Change: E260G

SMART Domains

Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
AA Change: E260G

Domain	Start	End	E-Value	Type
Pfam:MRVI1	8	504	3.7e-248	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135191

Predicted Effect

probably benign
Transcript: ENSMUST00000135984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149244

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	G	A	7: 144,198,489 (GRCm39)		probably benign	Het
C6	T	C	15: 4,764,739 (GRCm39)	L145P	possibly damaging	Het
Cfap43	A	T	19: 47,885,100 (GRCm39)	L505H	probably damaging	Het
Plekhg6	T	A	6: 125,349,514 (GRCm39)	E361V	probably null	Het
Pnp	T	A	14: 51,188,459 (GRCm39)	M233K	probably benign	Het
Ptpre	T	C	7: 135,260,782 (GRCm39)	S140P	probably damaging	Het
Rgs3	C	T	4: 62,619,304 (GRCm39)	T463I	probably damaging	Het
Rragc	T	C	4: 123,813,636 (GRCm39)		probably benign	Het
Taar6	C	A	10: 23,861,480 (GRCm39)	C22F	probably damaging	Het
Taok2	T	A	7: 126,471,583 (GRCm39)	Q532L	probably damaging	Het
Tas2r130	T	C	6: 131,607,234 (GRCm39)	N187S	probably damaging	Het

Other mutations in Irag2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Irag2	APN	6	145,106,681 (GRCm39)	missense	probably damaging	1.00
IGL01877:Irag2	APN	6	145,093,525 (GRCm39)	missense	probably damaging	0.99
IGL02154:Irag2	APN	6	145,083,967 (GRCm39)	missense	possibly damaging	0.92
IGL02727:Irag2	APN	6	145,120,344 (GRCm39)	missense	possibly damaging	0.78
FR4976:Irag2	UTSW	6	145,119,511 (GRCm39)	unclassified	probably benign
R0238:Irag2	UTSW	6	145,117,704 (GRCm39)	unclassified	probably benign
R0239:Irag2	UTSW	6	145,117,704 (GRCm39)	unclassified	probably benign
R0454:Irag2	UTSW	6	145,113,710 (GRCm39)	missense	possibly damaging	0.73
R0485:Irag2	UTSW	6	145,110,938 (GRCm39)	missense	probably damaging	1.00
R0487:Irag2	UTSW	6	145,110,986 (GRCm39)	missense	probably benign	0.02
R0554:Irag2	UTSW	6	145,111,013 (GRCm39)	missense	probably benign	0.01
R0634:Irag2	UTSW	6	145,120,354 (GRCm39)	missense	probably damaging	0.98
R1440:Irag2	UTSW	6	145,120,237 (GRCm39)	missense	possibly damaging	0.77
R1574:Irag2	UTSW	6	145,104,356 (GRCm39)	splice site	probably benign
R1697:Irag2	UTSW	6	145,083,341 (GRCm39)	splice site	probably benign
R1968:Irag2	UTSW	6	145,115,499 (GRCm39)	missense	probably damaging	0.98
R3735:Irag2	UTSW	6	145,106,596 (GRCm39)	splice site	probably benign
R3736:Irag2	UTSW	6	145,106,596 (GRCm39)	splice site	probably benign
R4643:Irag2	UTSW	6	145,113,786 (GRCm39)	missense	probably benign	0.17
R4812:Irag2	UTSW	6	145,093,737 (GRCm39)	missense	probably damaging	1.00
R4916:Irag2	UTSW	6	145,111,027 (GRCm39)	missense	probably damaging	1.00
R5183:Irag2	UTSW	6	145,083,946 (GRCm39)	missense	probably benign	0.23
R5845:Irag2	UTSW	6	145,117,392 (GRCm39)	missense	probably benign	0.00
R6701:Irag2	UTSW	6	145,090,702 (GRCm39)	nonsense	probably null
R6735:Irag2	UTSW	6	145,106,619 (GRCm39)	missense	probably damaging	1.00
R7083:Irag2	UTSW	6	145,115,509 (GRCm39)	missense	probably damaging	1.00
R7317:Irag2	UTSW	6	145,104,424 (GRCm39)	missense	possibly damaging	0.93
R7468:Irag2	UTSW	6	145,119,427 (GRCm39)	splice site	probably null
R8429:Irag2	UTSW	6	145,110,949 (GRCm39)	missense	probably damaging	1.00
R8485:Irag2	UTSW	6	145,117,400 (GRCm39)	missense	probably damaging	1.00
R8779:Irag2	UTSW	6	145,083,925 (GRCm39)	missense	probably benign	0.00
R8955:Irag2	UTSW	6	145,117,390 (GRCm39)	missense	probably benign
R9034:Irag2	UTSW	6	145,083,273 (GRCm39)	missense	probably benign
R9487:Irag2	UTSW	6	145,120,257 (GRCm39)	missense	probably benign	0.00
R9488:Irag2	UTSW	6	145,113,753 (GRCm39)	missense	probably damaging	1.00
R9676:Irag2	UTSW	6	145,120,338 (GRCm39)	missense	probably damaging	1.00
RF003:Irag2	UTSW	6	145,119,509 (GRCm39)	unclassified	probably benign
RF015:Irag2	UTSW	6	145,119,509 (GRCm39)	unclassified	probably benign
RF017:Irag2	UTSW	6	145,119,510 (GRCm39)	unclassified	probably benign
RF027:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF029:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF030:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF030:Irag2	UTSW	6	145,119,514 (GRCm39)	unclassified	probably benign
RF038:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF043:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF044:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF048:Irag2	UTSW	6	145,119,510 (GRCm39)	unclassified	probably benign
RF052:Irag2	UTSW	6	145,106,257 (GRCm39)	critical splice acceptor site	probably benign
RF054:Irag2	UTSW	6	145,119,514 (GRCm39)	unclassified	probably benign
RF055:Irag2	UTSW	6	145,119,511 (GRCm39)	unclassified	probably benign
Z1177:Irag2	UTSW	6	145,093,800 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17