Incidental Mutation 'R6735:Irag2'
| ID |
530180 |
| 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 |
044853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145106619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 201
(L201S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000135984]
[ENSMUST00000152571]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032396
AA Change: L201S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
AA Change: L201S
| 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 |
unknown
Transcript: ENSMUST00000132948
AA Change: L165S
|
| SMART Domains |
Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
AA Change: L165S
| 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 |
unknown
Transcript: ENSMUST00000156849
AA Change: L166S
|
| SMART Domains |
Protein: ENSMUSP00000115043
Gene: ENSMUSG00000030263
AA Change: L166S
| 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 |
|
| Meta Mutation Damage Score |
0.7363 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,026,274 (GRCm39) |
T265A |
probably benign |
Het |
| Adap1 |
A |
T |
5: 139,278,900 (GRCm39) |
Y127N |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,189 (GRCm39) |
F246S |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,518,098 (GRCm39) |
Y68H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,966 (GRCm39) |
S906P |
probably benign |
Het |
| C9 |
A |
T |
15: 6,519,387 (GRCm39) |
D408V |
probably benign |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,874,700 (GRCm39) |
Y174N |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,683,351 (GRCm39) |
Y289H |
probably damaging |
Het |
| Erbin |
A |
T |
13: 104,020,718 (GRCm39) |
D80E |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,910,182 (GRCm39) |
E829V |
possibly damaging |
Het |
| Foxn2 |
T |
G |
17: 88,794,223 (GRCm39) |
S387A |
probably benign |
Het |
| Hapstr1 |
T |
A |
16: 8,673,764 (GRCm39) |
H230Q |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Lhx6 |
T |
G |
2: 35,981,390 (GRCm39) |
D67A |
probably damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,807,121 (GRCm39) |
M220K |
probably damaging |
Het |
| Macroh2a2 |
A |
G |
10: 61,577,046 (GRCm39) |
I274T |
probably damaging |
Het |
| Naa35 |
T |
C |
13: 59,773,378 (GRCm39) |
L111P |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,041,902 (GRCm39) |
V1307E |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,320,859 (GRCm39) |
M77L |
probably benign |
Het |
| Or5m11b |
A |
C |
2: 85,805,778 (GRCm39) |
S64R |
possibly damaging |
Het |
| Pigz |
A |
G |
16: 31,764,361 (GRCm39) |
N473S |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,628,195 (GRCm39) |
D423G |
probably damaging |
Het |
| Plac8 |
A |
G |
5: 100,710,485 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
T |
C |
18: 42,821,653 (GRCm39) |
|
probably null |
Het |
| Proc |
T |
C |
18: 32,256,701 (GRCm39) |
N322S |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,573,398 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,892,169 (GRCm39) |
|
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,341,486 (GRCm39) |
D216G |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,215,048 (GRCm39) |
E345G |
possibly damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,398,983 (GRCm39) |
K197* |
probably null |
Het |
| Suv39h1 |
C |
A |
X: 7,929,138 (GRCm39) |
R397L |
probably damaging |
Homo |
| Thbs4 |
T |
A |
13: 92,891,674 (GRCm39) |
M814L |
possibly damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,805 (GRCm39) |
|
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,159 (GRCm39) |
A167S |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,629,252 (GRCm39) |
C14362F |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,004,272 (GRCm39) |
I161V |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,138 (GRCm39) |
L134P |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,713,586 (GRCm39) |
E73G |
possibly damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,358,402 (GRCm39) |
M617K |
possibly damaging |
Het |
| Zc3h3 |
G |
A |
15: 75,628,483 (GRCm39) |
T937I |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 45,000,028 (GRCm39) |
V25M |
probably null |
Het |
| Zfp108 |
T |
C |
7: 23,961,197 (GRCm39) |
F596S |
probably damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,641,618 (GRCm39) |
N13Y |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,754,105 (GRCm39) |
D185G |
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 |
|
|
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'- CAGCACTTCAGCTAATGAGAAGG -3'
(R):5'- AGTGGGCATAAGCATGTGAC -3'
Sequencing Primer
(F):5'- TAAAGCAAATGTCTACCTGTCTCC -3'
(R):5'- GGCATAAGCATGTGACTAATGTCCC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation