Incidental Mutation 'R3735:Irag2'
ID |
270067 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irag2
|
Ensembl Gene |
ENSMUSG00000030263 |
Gene Name |
inositol 1,4,5-triphosphate receptor associated 2 |
Synonyms |
Jaw1, Lrmp, D6Int7, D6Int8, D6Int5, D6Int4, D6Int3 |
MMRRC Submission |
040722-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3735 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 145106596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000135984]
[ENSMUST00000152571]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032396
|
SMART Domains |
Protein: ENSMUSP00000032396 Gene: ENSMUSG00000030263
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132937
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132948
|
SMART Domains |
Protein: ENSMUSP00000120248 Gene: ENSMUSG00000030263
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
8 |
504 |
3.7e-248 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149244
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156849
|
SMART Domains |
Protein: ENSMUSP00000115043 Gene: ENSMUSG00000030263
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
9 |
196 |
1.2e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152571
|
SMART Domains |
Protein: ENSMUSP00000120166 Gene: ENSMUSG00000030263
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
9 |
198 |
2.2e-56 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (71/71) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
G |
4: 103,123,603 (GRCm39) |
E90Q |
probably damaging |
Het |
Acadl |
G |
A |
1: 66,892,448 (GRCm39) |
A125V |
probably benign |
Het |
Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
Adam17 |
T |
C |
12: 21,375,413 (GRCm39) |
D802G |
probably benign |
Het |
Aoc3 |
A |
T |
11: 101,223,045 (GRCm39) |
D427V |
probably damaging |
Het |
Bivm |
C |
T |
1: 44,165,594 (GRCm39) |
H15Y |
probably benign |
Het |
C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
Cdca7 |
T |
A |
2: 72,314,209 (GRCm39) |
|
probably null |
Het |
Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
Champ1 |
T |
C |
8: 13,928,735 (GRCm39) |
S298P |
probably damaging |
Het |
Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
Dcaf10 |
C |
T |
4: 45,348,117 (GRCm39) |
T191I |
probably benign |
Het |
Dido1 |
A |
G |
2: 180,325,829 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
C |
T |
1: 46,339,035 (GRCm39) |
T3361I |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
Eml5 |
G |
A |
12: 98,822,248 (GRCm39) |
T721I |
possibly damaging |
Het |
F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
Fam169b |
G |
T |
7: 68,000,049 (GRCm39) |
R198S |
probably damaging |
Het |
Gm7694 |
A |
G |
1: 170,130,330 (GRCm39) |
S23P |
probably damaging |
Het |
Grk3 |
T |
A |
5: 113,101,697 (GRCm39) |
T248S |
probably benign |
Het |
Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
Ido2 |
C |
T |
8: 25,025,209 (GRCm39) |
V273M |
probably damaging |
Het |
Il12rb1 |
T |
C |
8: 71,269,862 (GRCm39) |
L518P |
probably damaging |
Het |
Kansl1l |
A |
G |
1: 66,840,409 (GRCm39) |
V297A |
possibly damaging |
Het |
Kcnj10 |
A |
G |
1: 172,197,533 (GRCm39) |
Y349C |
possibly damaging |
Het |
Krt18 |
A |
G |
15: 101,936,936 (GRCm39) |
T75A |
probably benign |
Het |
Lrp4 |
A |
T |
2: 91,328,716 (GRCm39) |
I1539F |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,973,683 (GRCm39) |
V458A |
probably benign |
Het |
Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
Med13 |
A |
C |
11: 86,170,484 (GRCm39) |
M1850R |
probably benign |
Het |
Mfsd13a |
A |
G |
19: 46,356,767 (GRCm39) |
Y256C |
probably damaging |
Het |
Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
Myo9b |
T |
C |
8: 71,801,241 (GRCm39) |
V1133A |
probably benign |
Het |
Myom2 |
A |
T |
8: 15,119,676 (GRCm39) |
H144L |
probably benign |
Het |
Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
Nkx1-1 |
C |
T |
5: 33,591,074 (GRCm39) |
V83I |
unknown |
Het |
Npy4r |
T |
A |
14: 33,869,226 (GRCm39) |
T21S |
probably benign |
Het |
Nup88 |
A |
G |
11: 70,847,018 (GRCm39) |
S331P |
probably damaging |
Het |
Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
Or4k44 |
T |
A |
2: 111,368,241 (GRCm39) |
H131L |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,735,390 (GRCm39) |
Y131* |
probably null |
Het |
Pgr |
G |
A |
9: 8,901,534 (GRCm39) |
G356S |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,860,929 (GRCm39) |
E787G |
probably damaging |
Het |
Prpf18 |
A |
G |
2: 4,648,484 (GRCm39) |
I114T |
probably benign |
Het |
R3hdm2 |
T |
A |
10: 127,300,879 (GRCm39) |
I280N |
probably benign |
Het |
Rims4 |
T |
C |
2: 163,705,905 (GRCm39) |
D243G |
possibly damaging |
Het |
Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
Rpap2 |
T |
C |
5: 107,803,017 (GRCm39) |
|
probably benign |
Het |
Sdr16c5 |
G |
A |
4: 4,005,614 (GRCm39) |
T240I |
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
Slc36a4 |
T |
A |
9: 15,649,569 (GRCm39) |
Y466* |
probably null |
Het |
Slco3a1 |
A |
G |
7: 74,154,245 (GRCm39) |
I80T |
probably damaging |
Het |
Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
Stam |
A |
T |
2: 14,133,823 (GRCm39) |
Q190L |
probably damaging |
Het |
Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
Tacstd2 |
A |
G |
6: 67,511,843 (GRCm39) |
V283A |
probably damaging |
Het |
Tln1 |
G |
T |
4: 43,549,370 (GRCm39) |
A616E |
probably damaging |
Het |
Trdmt1 |
A |
T |
2: 13,524,684 (GRCm39) |
F257Y |
possibly damaging |
Het |
Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
Trps1 |
A |
G |
15: 50,709,456 (GRCm39) |
I298T |
possibly damaging |
Het |
Tti2 |
T |
C |
8: 31,645,925 (GRCm39) |
L413P |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,354,228 (GRCm39) |
V343A |
probably damaging |
Het |
Vwf |
G |
T |
6: 125,565,576 (GRCm39) |
W288L |
probably damaging |
Het |
Zfp629 |
T |
A |
7: 127,211,950 (GRCm39) |
|
probably benign |
Het |
Zfp873 |
G |
A |
10: 81,897,015 (GRCm39) |
S582N |
probably benign |
Het |
Zfp979 |
A |
G |
4: 147,697,939 (GRCm39) |
Y257H |
possibly damaging |
Het |
Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGAGTTTAAAGCAAATGTCTACC -3'
(R):5'- AGTGGGCATAAGCATGTGAC -3'
Sequencing Primer
(F):5'- TAAAGCAAATGTCTACCTGTCTCC -3'
(R):5'- GGCATAAGCATGTGACTAATGTCCC -3'
|
Posted On |
2015-03-18 |