Incidental Mutation 'R9488:Irag2'
ID |
716747 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9488 (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 145113753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 307
(R307Q)
|
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: R307Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032396 Gene: ENSMUSG00000030263 AA Change: R307Q
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000120248 Gene: ENSMUSG00000030263 AA Change: R271Q
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: 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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,643,212 (GRCm39) |
I294L |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,589,343 (GRCm39) |
K187N |
probably damaging |
Het |
Arhgap40 |
C |
T |
2: 158,391,571 (GRCm39) |
T631M |
possibly damaging |
Het |
Arpin |
T |
C |
7: 79,584,979 (GRCm39) |
Y5C |
probably damaging |
Het |
B020011L13Rik |
A |
G |
1: 117,728,724 (GRCm39) |
Y77C |
|
Het |
Cdk17 |
A |
G |
10: 93,044,066 (GRCm39) |
K2E |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,049,260 (GRCm39) |
F86L |
probably benign |
Het |
Cfap418 |
A |
G |
4: 10,893,271 (GRCm39) |
D130G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,659,532 (GRCm39) |
T775A |
probably damaging |
Het |
Clvs2 |
T |
A |
10: 33,389,301 (GRCm39) |
D313V |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,741,788 (GRCm39) |
Y2377C |
probably damaging |
Het |
Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,377,218 (GRCm39) |
R1668G |
probably benign |
Het |
Eif2d |
T |
A |
1: 131,082,962 (GRCm39) |
V102E |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,631,337 (GRCm39) |
V210A |
probably damaging |
Het |
Galntl5 |
A |
G |
5: 25,415,437 (GRCm39) |
R323G |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,904,533 (GRCm39) |
T129A |
probably benign |
Het |
Gm572 |
A |
G |
4: 148,752,913 (GRCm39) |
H264R |
possibly damaging |
Het |
Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
Ighv7-4 |
T |
C |
12: 114,186,619 (GRCm39) |
Y51C |
probably damaging |
Het |
Jam2 |
A |
G |
16: 84,619,676 (GRCm39) |
D289G |
probably damaging |
Het |
Krt27 |
A |
G |
11: 99,239,535 (GRCm39) |
|
probably null |
Het |
Lama5 |
T |
C |
2: 179,823,234 (GRCm39) |
N2704S |
possibly damaging |
Het |
Lhx8 |
A |
T |
3: 154,033,764 (GRCm39) |
S70T |
possibly damaging |
Het |
Lmo7 |
C |
A |
14: 102,122,783 (GRCm39) |
T324N |
possibly damaging |
Het |
Man2a1 |
A |
G |
17: 65,040,734 (GRCm39) |
T907A |
possibly damaging |
Het |
Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
Mga |
C |
T |
2: 119,795,304 (GRCm39) |
A2996V |
possibly damaging |
Het |
Mybpc1 |
A |
T |
10: 88,379,624 (GRCm39) |
M625K |
possibly damaging |
Het |
Ncald |
T |
A |
15: 37,372,369 (GRCm39) |
N159Y |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,527,866 (GRCm39) |
T832A |
possibly damaging |
Het |
P2rx5 |
T |
A |
11: 73,056,427 (GRCm39) |
I117N |
|
Het |
Pcdhb3 |
C |
A |
18: 37,435,416 (GRCm39) |
R461S |
possibly damaging |
Het |
Polr1b |
T |
C |
2: 128,967,417 (GRCm39) |
S937P |
probably damaging |
Het |
Prep |
C |
A |
10: 44,996,807 (GRCm39) |
Q362K |
|
Het |
Prg4 |
T |
C |
1: 150,327,024 (GRCm39) |
M342V |
probably benign |
Het |
Prr14 |
A |
T |
7: 127,073,687 (GRCm39) |
T184S |
possibly damaging |
Het |
Prss58 |
A |
G |
6: 40,874,382 (GRCm39) |
I98T |
probably benign |
Het |
Pum3 |
T |
C |
19: 27,394,188 (GRCm39) |
T361A |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Sema4c |
A |
G |
1: 36,591,067 (GRCm39) |
V424A |
probably benign |
Het |
Sema6a |
A |
T |
18: 47,437,216 (GRCm39) |
I58N |
probably damaging |
Het |
Slc13a3 |
T |
A |
2: 165,250,851 (GRCm39) |
Y506F |
probably damaging |
Het |
Slc15a2 |
A |
G |
16: 36,579,651 (GRCm39) |
V365A |
probably benign |
Het |
Slc39a5 |
G |
A |
10: 128,233,628 (GRCm39) |
L290F |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,850,560 (GRCm39) |
V532A |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,759,436 (GRCm39) |
T161A |
probably benign |
Het |
Tbl2 |
T |
A |
5: 135,187,471 (GRCm39) |
C243S |
probably benign |
Het |
Tet2 |
A |
T |
3: 133,193,103 (GRCm39) |
S444T |
probably benign |
Het |
Thoc1 |
C |
T |
18: 9,992,168 (GRCm39) |
L499F |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,913,942 (GRCm39) |
V1290A |
probably damaging |
Het |
Tnpo1 |
T |
C |
13: 98,990,003 (GRCm39) |
D716G |
probably damaging |
Het |
Tpp2 |
A |
T |
1: 44,041,272 (GRCm39) |
K1236N |
probably benign |
Het |
Tshr |
T |
C |
12: 91,504,589 (GRCm39) |
V509A |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,356,535 (GRCm39) |
T775A |
|
Het |
Ubap2l |
T |
C |
3: 89,928,656 (GRCm39) |
T486A |
probably benign |
Het |
Usp28 |
C |
A |
9: 48,935,288 (GRCm39) |
P457T |
probably damaging |
Het |
Usp44 |
A |
G |
10: 93,682,851 (GRCm39) |
I387V |
possibly damaging |
Het |
Vmn1r225 |
A |
G |
17: 20,722,793 (GRCm39) |
D78G |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,447,880 (GRCm39) |
M537T |
possibly damaging |
Het |
Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
Zfp1005 |
G |
A |
2: 150,110,477 (GRCm39) |
G389D |
unknown |
Het |
Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
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 |
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 |
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'- GCCCTGCTTATGTTGGACCC -3'
(R):5'- CAGGAGCATGAAAGAAGAGACTTTT -3'
Sequencing Primer
(F):5'- GGCAACTTTGAAAGTGCTGACTC -3'
(R):5'- CAGTGGGACGTAACTTTATCCCAG -3'
|
Posted On |
2022-07-18 |