Incidental Mutation 'R7083:Irag2'
| ID |
549671 |
| 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 |
045177-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145115509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 349
(N349I)
|
| 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: N349I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
AA Change: N349I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
AA Change: N313I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
8 |
504 |
3.7e-248 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
T |
12: 81,607,015 (GRCm39) |
M249K |
possibly damaging |
Het |
| Arhgef38 |
T |
A |
3: 132,838,197 (GRCm39) |
Q613L |
unknown |
Het |
| Arpp21 |
A |
G |
9: 112,012,612 (GRCm39) |
V70A |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,508,943 (GRCm39) |
N327S |
probably damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,058 (GRCm39) |
K723R |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,754,594 (GRCm39) |
L724P |
probably damaging |
Het |
| Btnl10 |
G |
T |
11: 58,809,963 (GRCm39) |
V35F |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,567,473 (GRCm39) |
T704S |
probably damaging |
Het |
| Cd4 |
T |
G |
6: 124,847,535 (GRCm39) |
S210R |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,123,579 (GRCm39) |
Q444R |
probably benign |
Het |
| Dusp26 |
A |
G |
8: 31,581,747 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
C |
T |
6: 5,969,429 (GRCm39) |
A418V |
probably damaging |
Het |
| Fibp |
A |
G |
19: 5,513,659 (GRCm39) |
D232G |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,444,914 (GRCm39) |
T2406S |
probably damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
T |
A |
1: 125,605,155 (GRCm39) |
W28R |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,773,315 (GRCm39) |
V253A |
probably benign |
Het |
| Hexim1 |
T |
G |
11: 103,007,992 (GRCm39) |
L82W |
possibly damaging |
Het |
| Hmga1 |
G |
T |
17: 27,779,945 (GRCm39) |
R49L |
possibly damaging |
Het |
| Itch |
A |
T |
2: 155,052,364 (GRCm39) |
N655Y |
probably damaging |
Het |
| Izumo2 |
A |
G |
7: 44,359,757 (GRCm39) |
E129G |
probably damaging |
Het |
| Klk1b24 |
G |
A |
7: 43,841,225 (GRCm39) |
C186Y |
probably damaging |
Het |
| Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,166 (GRCm39) |
I420V |
probably benign |
Het |
| Ltk |
A |
C |
2: 119,582,555 (GRCm39) |
C776G |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,874,223 (GRCm39) |
L1715R |
probably damaging |
Het |
| Med28 |
T |
C |
5: 45,680,878 (GRCm39) |
|
probably null |
Het |
| Naf1 |
GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,138 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
C |
A |
15: 103,390,551 (GRCm39) |
T774K |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,638,663 (GRCm39) |
K266E |
possibly damaging |
Het |
| Ntrk3 |
T |
A |
7: 77,900,587 (GRCm39) |
D584V |
probably damaging |
Het |
| Or1o1 |
T |
C |
17: 37,717,063 (GRCm39) |
V208A |
probably benign |
Het |
| Or2h15 |
T |
A |
17: 38,441,601 (GRCm39) |
T161S |
probably benign |
Het |
| Or4c126 |
A |
G |
2: 89,824,201 (GRCm39) |
I155V |
probably benign |
Het |
| Or4n4b |
G |
A |
14: 50,536,736 (GRCm39) |
T10I |
possibly damaging |
Het |
| Or5h25 |
T |
C |
16: 58,930,400 (GRCm39) |
D191G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,825,976 (GRCm39) |
I376K |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prps1l3 |
A |
T |
12: 57,286,034 (GRCm39) |
I275L |
probably benign |
Het |
| Psg26 |
G |
A |
7: 18,213,934 (GRCm39) |
R243* |
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,315,052 (GRCm39) |
H1924R |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,709,221 (GRCm39) |
D4G |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,108,722 (GRCm39) |
L1642P |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,112,384 (GRCm39) |
L1915P |
probably damaging |
Het |
| Slc26a10 |
A |
G |
10: 127,013,037 (GRCm39) |
V319A |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,064,839 (GRCm39) |
N231S |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,312,165 (GRCm39) |
Q322R |
possibly damaging |
Het |
| Sting1 |
T |
C |
18: 35,867,703 (GRCm39) |
H331R |
probably damaging |
Het |
| Syde1 |
G |
T |
10: 78,422,903 (GRCm39) |
P490T |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,990,662 (GRCm39) |
I1881M |
probably damaging |
Het |
| Taf1c |
T |
C |
8: 120,327,407 (GRCm39) |
D387G |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,544,556 (GRCm39) |
Y2228N |
probably damaging |
Het |
| Tubgcp5 |
C |
T |
7: 55,450,443 (GRCm39) |
Q185* |
probably null |
Het |
| Vmn2r44 |
T |
A |
7: 8,381,369 (GRCm39) |
I175F |
probably benign |
Het |
| Zdhhc7 |
C |
A |
8: 120,812,166 (GRCm39) |
C152F |
probably damaging |
Het |
| Zfp52 |
T |
A |
17: 21,780,392 (GRCm39) |
M80K |
possibly damaging |
Het |
| Zfp612 |
T |
C |
8: 110,815,768 (GRCm39) |
I325T |
probably damaging |
Het |
| Zmiz1 |
T |
G |
14: 25,652,372 (GRCm39) |
F597V |
probably 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 |
|
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 |
|
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'- AGAGGCCTTAGTAAATCCTGTTTGAC -3'
(R):5'- TTCTGGTCGACATACAAACAGAAC -3'
Sequencing Primer
(F):5'- CTCAGTGGGTAAGAGCACCTG -3'
(R):5'- GTCGACATACAAACAGAACACTGTAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation