Incidental Mutation 'IGL00466:Il1rapl2'
ID |
5637 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Il1rapl2
|
Ensembl Gene |
ENSMUSG00000059203 |
Gene Name |
interleukin 1 receptor accessory protein-like 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL00466
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
136471357-137747695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137735292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 403
(D403G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075471]
[ENSMUST00000113063]
|
AlphaFold |
Q9ERS6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075471
AA Change: D403G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074917 Gene: ENSMUSG00000059203 AA Change: D403G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
38 |
134 |
3.25e-3 |
SMART |
IG
|
149 |
232 |
1.84e-2 |
SMART |
IG
|
250 |
349 |
8.38e-6 |
SMART |
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
TIR
|
401 |
559 |
2.27e-26 |
SMART |
low complexity region
|
643 |
657 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113063
AA Change: D403G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108686 Gene: ENSMUSG00000059203 AA Change: D403G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
38 |
134 |
3.25e-3 |
SMART |
IG
|
149 |
232 |
1.84e-2 |
SMART |
IG
|
250 |
349 |
8.38e-6 |
SMART |
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
TIR
|
401 |
559 |
2.27e-26 |
SMART |
low complexity region
|
643 |
657 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
Atm |
A |
G |
9: 53,410,412 (GRCm39) |
|
probably benign |
Het |
Ccdc59 |
G |
A |
10: 105,683,035 (GRCm39) |
S240N |
probably benign |
Het |
Ccdc59 |
A |
T |
10: 105,683,034 (GRCm39) |
S240C |
probably benign |
Het |
Chrm1 |
A |
T |
19: 8,655,438 (GRCm39) |
I48F |
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,022,081 (GRCm39) |
|
probably benign |
Het |
Gys2 |
G |
A |
6: 142,409,016 (GRCm39) |
Q80* |
probably null |
Het |
Hck |
A |
T |
2: 152,978,653 (GRCm39) |
T289S |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,689,955 (GRCm39) |
L319* |
probably null |
Het |
Kit |
T |
C |
5: 75,771,479 (GRCm39) |
I212T |
probably benign |
Het |
Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
C |
7: 141,232,169 (GRCm39) |
Y986C |
possibly damaging |
Het |
Nln |
A |
C |
13: 104,172,153 (GRCm39) |
V641G |
probably damaging |
Het |
Nyap2 |
C |
A |
1: 81,169,695 (GRCm39) |
L151I |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,709,473 (GRCm39) |
Y1109C |
probably damaging |
Het |
Slc10a4 |
T |
C |
5: 73,169,263 (GRCm39) |
I296T |
probably damaging |
Het |
Slc35c1 |
T |
A |
2: 92,284,703 (GRCm39) |
I304F |
probably benign |
Het |
Stxbp2 |
C |
T |
8: 3,684,065 (GRCm39) |
A124V |
probably benign |
Het |
Stxbp5 |
A |
G |
10: 9,675,694 (GRCm39) |
Y642H |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,243,844 (GRCm39) |
T2003A |
probably damaging |
Het |
Zfp804a |
C |
A |
2: 81,884,219 (GRCm39) |
L29I |
probably benign |
Het |
|
Other mutations in Il1rapl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01147:Il1rapl2
|
APN |
X |
137,121,325 (GRCm39) |
splice site |
probably benign |
|
IGL02048:Il1rapl2
|
APN |
X |
137,690,398 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02500:Il1rapl2
|
APN |
X |
137,747,252 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03247:Il1rapl2
|
APN |
X |
137,690,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |