Incidental Mutation 'IGL02154:Irag2'
ID |
282165 |
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)
|
Stock # |
IGL02154
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 145083967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 44
(M44R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000135984]
[ENSMUST00000152571]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032396
AA Change: M44R
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000032396 Gene: ENSMUSG00000030263 AA Change: M44R
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149244
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152571
AA Change: M44R
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000120166 Gene: ENSMUSG00000030263 AA Change: M44R
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
9 |
198 |
2.2e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204561
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Armh4 |
G |
A |
14: 50,010,399 (GRCm39) |
T436I |
possibly damaging |
Het |
AW551984 |
G |
A |
9: 39,500,398 (GRCm39) |
R787C |
possibly damaging |
Het |
Cadm1 |
A |
T |
9: 47,725,201 (GRCm39) |
I321L |
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,470,214 (GRCm39) |
L222P |
probably damaging |
Het |
Cox20 |
A |
G |
1: 178,150,119 (GRCm39) |
I98V |
probably benign |
Het |
Dmrta1 |
A |
G |
4: 89,580,150 (GRCm39) |
N370S |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,015,087 (GRCm39) |
F386L |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,320,559 (GRCm39) |
I1323V |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,592,266 (GRCm39) |
S211P |
probably damaging |
Het |
Galnt10 |
T |
G |
11: 57,675,531 (GRCm39) |
L597V |
probably damaging |
Het |
Gtf2e2 |
T |
C |
8: 34,245,989 (GRCm39) |
|
probably null |
Het |
Inpp4b |
T |
A |
8: 82,696,130 (GRCm39) |
|
probably benign |
Het |
Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,740,395 (GRCm39) |
D3750G |
probably benign |
Het |
Mme |
A |
T |
3: 63,250,976 (GRCm39) |
Q339L |
probably benign |
Het |
Mmp3 |
A |
T |
9: 7,453,662 (GRCm39) |
I428L |
probably benign |
Het |
Myrf |
A |
T |
19: 10,193,482 (GRCm39) |
I558N |
probably damaging |
Het |
Or52e8 |
C |
T |
7: 104,625,188 (GRCm39) |
M1I |
probably null |
Het |
Phb1 |
A |
G |
11: 95,565,997 (GRCm39) |
I94V |
possibly damaging |
Het |
Prg4 |
T |
A |
1: 150,330,613 (GRCm39) |
|
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,475,504 (GRCm39) |
T344A |
probably damaging |
Het |
Skap2 |
T |
C |
6: 51,989,308 (GRCm39) |
|
probably benign |
Het |
Slc29a1 |
A |
G |
17: 45,897,089 (GRCm39) |
I399T |
probably damaging |
Het |
Sorl1 |
C |
T |
9: 41,915,330 (GRCm39) |
V1300I |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,678 (GRCm39) |
V272A |
probably benign |
Het |
Tctn2 |
C |
A |
5: 124,746,624 (GRCm39) |
|
noncoding transcript |
Het |
Tmem51 |
T |
C |
4: 141,759,089 (GRCm39) |
N220D |
probably damaging |
Het |
Trak2 |
T |
C |
1: 58,947,888 (GRCm39) |
D584G |
probably damaging |
Het |
Vmn1r78 |
A |
G |
7: 11,886,472 (GRCm39) |
I28V |
probably benign |
Het |
Vmn2r95 |
A |
C |
17: 18,672,248 (GRCm39) |
I662L |
probably benign |
Het |
Vwa8 |
C |
A |
14: 79,086,733 (GRCm39) |
R4S |
possibly damaging |
Het |
|
Other mutations in Irag2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00918:Irag2
|
APN |
6 |
145,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |