Incidental Mutation 'R7317:Irag2'
ID |
563464 |
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 |
045369-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7317 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 145104424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 164
(G164R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000135984]
[ENSMUST00000152571]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032396
AA Change: G164R
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032396 Gene: ENSMUSG00000030263 AA Change: G164R
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000120248 Gene: ENSMUSG00000030263 AA Change: G128R
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
8 |
504 |
3.7e-248 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152571
AA Change: G184R
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000120166 Gene: ENSMUSG00000030263 AA Change: G184R
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
9 |
198 |
2.2e-56 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000115043 Gene: ENSMUSG00000030263 AA Change: G129R
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
9 |
196 |
1.2e-74 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
G |
A |
5: 8,140,202 (GRCm39) |
P832L |
probably benign |
Het |
Adamts17 |
C |
T |
7: 66,490,304 (GRCm39) |
R129* |
probably null |
Het |
Alg5 |
G |
T |
3: 54,656,752 (GRCm39) |
R321L |
probably benign |
Het |
Amotl1 |
T |
A |
9: 14,486,515 (GRCm39) |
T460S |
probably benign |
Het |
Ankrd50 |
T |
C |
3: 38,537,332 (GRCm39) |
E7G |
possibly damaging |
Het |
Ap3b2 |
T |
C |
7: 81,110,776 (GRCm39) |
T1000A |
unknown |
Het |
Arap2 |
G |
A |
5: 62,807,067 (GRCm39) |
T1200M |
probably damaging |
Het |
Asb2 |
A |
T |
12: 103,299,616 (GRCm39) |
I272N |
probably damaging |
Het |
Bicd2 |
T |
C |
13: 49,531,784 (GRCm39) |
L342P |
probably damaging |
Het |
C1qtnf6 |
T |
A |
15: 78,409,206 (GRCm39) |
I214F |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,364,534 (GRCm39) |
H587Q |
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,450,502 (GRCm39) |
I1010F |
possibly damaging |
Het |
Chd1 |
A |
T |
17: 15,962,536 (GRCm39) |
K764N |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,556,530 (GRCm39) |
D956G |
possibly damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,770,730 (GRCm39) |
D243G |
probably benign |
Het |
Ercc4 |
T |
C |
16: 12,939,977 (GRCm39) |
V169A |
probably benign |
Het |
Erich6 |
T |
C |
3: 58,544,305 (GRCm39) |
E94G |
probably benign |
Het |
Fubp3 |
A |
G |
2: 31,494,624 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
C |
T |
17: 37,380,305 (GRCm39) |
T736I |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,963,072 (GRCm39) |
V200A |
probably benign |
Het |
Gm14496 |
T |
A |
2: 181,637,613 (GRCm39) |
M229K |
possibly damaging |
Het |
Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,040,521 (GRCm39) |
T596A |
probably benign |
Het |
H1f4 |
A |
G |
13: 23,806,350 (GRCm39) |
I44T |
probably damaging |
Het |
Htr5b |
T |
A |
1: 121,438,157 (GRCm39) |
Y358F |
probably damaging |
Het |
Il18r1 |
A |
T |
1: 40,513,992 (GRCm39) |
Y66F |
possibly damaging |
Het |
Il18rap |
A |
G |
1: 40,564,536 (GRCm39) |
T189A |
probably damaging |
Het |
Itgav |
G |
T |
2: 83,625,327 (GRCm39) |
A771S |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,705,518 (GRCm39) |
V324A |
possibly damaging |
Het |
Krtap15-1 |
T |
C |
16: 88,626,193 (GRCm39) |
C87R |
probably benign |
Het |
Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,169,755 (GRCm39) |
D1642G |
probably benign |
Het |
Med15 |
G |
T |
16: 17,489,507 (GRCm39) |
Q356K |
unknown |
Het |
Mmp3 |
A |
G |
9: 7,446,937 (GRCm39) |
Y39C |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,849,851 (GRCm39) |
S1149P |
probably damaging |
Het |
Msh3 |
A |
G |
13: 92,422,512 (GRCm39) |
I548T |
probably damaging |
Het |
Noc2l |
T |
A |
4: 156,323,673 (GRCm39) |
V179E |
possibly damaging |
Het |
Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
Or5k3 |
T |
G |
16: 58,969,684 (GRCm39) |
M157R |
possibly damaging |
Het |
Or5p64 |
G |
T |
7: 107,854,425 (GRCm39) |
Q307K |
probably benign |
Het |
Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
Pcdhb10 |
A |
T |
18: 37,546,079 (GRCm39) |
Q385L |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,592,329 (GRCm39) |
K105R |
probably damaging |
Het |
Pex1 |
A |
T |
5: 3,668,875 (GRCm39) |
D582V |
probably damaging |
Het |
Pheta1 |
A |
T |
5: 121,991,336 (GRCm39) |
T233S |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,223,496 (GRCm39) |
|
probably null |
Het |
Pigw |
T |
C |
11: 84,768,066 (GRCm39) |
N421S |
probably benign |
Het |
Plek |
T |
C |
11: 16,944,739 (GRCm39) |
K97R |
probably benign |
Het |
R3hcc1l |
C |
T |
19: 42,571,979 (GRCm39) |
R753* |
probably null |
Het |
R3hdml |
G |
A |
2: 163,344,367 (GRCm39) |
W252* |
probably null |
Het |
Septin12 |
T |
C |
16: 4,809,599 (GRCm39) |
K238E |
probably damaging |
Het |
Sgce |
G |
A |
6: 4,691,615 (GRCm39) |
T320I |
probably benign |
Het |
Sidt2 |
A |
T |
9: 45,854,988 (GRCm39) |
C562* |
probably null |
Het |
Skint8 |
T |
C |
4: 111,796,717 (GRCm39) |
C274R |
possibly damaging |
Het |
Slc13a5 |
A |
T |
11: 72,135,953 (GRCm39) |
M529K |
probably damaging |
Het |
Smg8 |
T |
G |
11: 86,976,391 (GRCm39) |
S397R |
possibly damaging |
Het |
Spock3 |
G |
T |
8: 63,566,590 (GRCm39) |
R68L |
possibly damaging |
Het |
Stau2 |
T |
A |
1: 16,530,553 (GRCm39) |
H122L |
unknown |
Het |
Tent5a |
G |
C |
9: 85,206,670 (GRCm39) |
A376G |
possibly damaging |
Het |
Tert |
G |
A |
13: 73,790,495 (GRCm39) |
R858H |
probably damaging |
Het |
Tgm3 |
G |
A |
2: 129,890,211 (GRCm39) |
R658Q |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,672,918 (GRCm39) |
I455T |
probably benign |
Het |
Tmtc4 |
G |
A |
14: 123,215,593 (GRCm39) |
P18S |
probably benign |
Het |
Tnc |
A |
G |
4: 63,890,959 (GRCm39) |
I1641T |
probably damaging |
Het |
Trav14-3 |
A |
T |
14: 54,000,951 (GRCm39) |
N54I |
probably damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,495,703 (GRCm39) |
M524K |
probably benign |
Het |
Unc93a |
A |
G |
17: 13,335,171 (GRCm39) |
F292L |
probably benign |
Het |
Uso1 |
A |
G |
5: 92,321,851 (GRCm39) |
N248S |
possibly damaging |
Het |
Usp5 |
A |
G |
6: 124,803,281 (GRCm39) |
L73P |
probably damaging |
Het |
Utp20 |
T |
A |
10: 88,598,797 (GRCm39) |
I60F |
possibly damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
probably benign |
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 |
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 |
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'- ATGTCACCTTGGCCTCAACTG -3'
(R):5'- AGCTACTGTTGGAAGCATGTG -3'
Sequencing Primer
(F):5'- TCAACTGGACCCTTGGAGCTG -3'
(R):5'- TGGAAGCATGTGTGGCCAATC -3'
|
Posted On |
2019-06-26 |