Incidental Mutation 'IGL03269:Il1rl2'
| ID |
415205 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il1rl2
|
| Ensembl Gene |
ENSMUSG00000070942 |
| Gene Name |
interleukin 1 receptor-like 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
40363770-40406722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40404472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 531
(F531Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095020]
[ENSMUST00000194296]
|
| AlphaFold |
Q9ERS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095020
AA Change: F531Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092630
Gene: ENSMUSG00000070942
AA Change: F531Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
IG
|
29 |
115 |
7.52e-8 |
SMART |
|
IG
|
134 |
219 |
1.94e-1 |
SMART |
|
IG_like
|
237 |
333 |
2.39e1 |
SMART |
|
transmembrane domain
|
340 |
362 |
N/A |
INTRINSIC |
|
TIR
|
385 |
542 |
5.05e-33 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194296
AA Change: F531Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142248
Gene: ENSMUSG00000070942
AA Change: F531Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
IG
|
29 |
115 |
7.52e-8 |
SMART |
|
IG
|
134 |
219 |
1.94e-1 |
SMART |
|
IG_like
|
237 |
333 |
2.39e1 |
SMART |
|
transmembrane domain
|
340 |
362 |
N/A |
INTRINSIC |
|
TIR
|
385 |
542 |
5.05e-33 |
SMART |
|
| 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. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are viable and overtly normal and have normal skin in an unchallenged context. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
A |
2: 26,998,367 (GRCm39) |
C930* |
probably null |
Het |
| Ankar |
A |
T |
1: 72,704,360 (GRCm39) |
V854E |
probably damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,767 (GRCm39) |
L579Q |
probably damaging |
Het |
| Clip2 |
G |
T |
5: 134,545,748 (GRCm39) |
H314Q |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,144,583 (GRCm39) |
V327A |
possibly damaging |
Het |
| Gdap1 |
T |
A |
1: 17,231,729 (GRCm39) |
F358Y |
probably benign |
Het |
| Ift70a2 |
T |
C |
2: 75,808,479 (GRCm39) |
D11G |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,466 (GRCm39) |
Y46C |
probably damaging |
Het |
| Irf6 |
A |
G |
1: 192,844,906 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,409 (GRCm39) |
T1632A |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,909,339 (GRCm39) |
|
probably null |
Het |
| Or4l1 |
T |
A |
14: 50,166,165 (GRCm39) |
T279S |
probably damaging |
Het |
| Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,197 (GRCm39) |
T10A |
probably benign |
Het |
| Osgepl1 |
C |
A |
1: 53,360,271 (GRCm39) |
Y332* |
probably null |
Het |
| Pibf1 |
G |
A |
14: 99,425,171 (GRCm39) |
A553T |
probably damaging |
Het |
| Prpf38b |
A |
G |
3: 108,812,557 (GRCm39) |
F219L |
probably benign |
Het |
| Pwp1 |
C |
A |
10: 85,718,768 (GRCm39) |
Q312K |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,665,403 (GRCm39) |
V185A |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,306,780 (GRCm39) |
I4T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,178 (GRCm39) |
V145A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,968,280 (GRCm39) |
D480G |
possibly damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,144 (GRCm39) |
C147Y |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,759,033 (GRCm39) |
P609T |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,622 (GRCm39) |
I122K |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,936 (GRCm39) |
K927E |
probably damaging |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,571 (GRCm39) |
T39I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,820 (GRCm39) |
L276P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,742,274 (GRCm39) |
R570L |
probably damaging |
Het |
|
| Other mutations in Il1rl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01631:Il1rl2
|
APN |
1 |
40,395,974 (GRCm39) |
splice site |
probably null |
|
|
IGL02490:Il1rl2
|
APN |
1 |
40,395,972 (GRCm39) |
splice site |
probably benign |
|
|
IGL03201:Il1rl2
|
APN |
1 |
40,382,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0088:Il1rl2
|
UTSW |
1 |
40,404,213 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0418:Il1rl2
|
UTSW |
1 |
40,365,662 (GRCm39) |
missense |
unknown |
|
|
R0504:Il1rl2
|
UTSW |
1 |
40,368,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1629:Il1rl2
|
UTSW |
1 |
40,396,020 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1679:Il1rl2
|
UTSW |
1 |
40,382,320 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1680:Il1rl2
|
UTSW |
1 |
40,390,953 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1892:Il1rl2
|
UTSW |
1 |
40,366,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Il1rl2
|
UTSW |
1 |
40,402,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Il1rl2
|
UTSW |
1 |
40,404,374 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4193:Il1rl2
|
UTSW |
1 |
40,404,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4364:Il1rl2
|
UTSW |
1 |
40,390,951 (GRCm39) |
missense |
probably benign |
|
|
R4365:Il1rl2
|
UTSW |
1 |
40,390,951 (GRCm39) |
missense |
probably benign |
|
|
R4657:Il1rl2
|
UTSW |
1 |
40,366,470 (GRCm39) |
intron |
probably benign |
|
|
R4840:Il1rl2
|
UTSW |
1 |
40,366,547 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4890:Il1rl2
|
UTSW |
1 |
40,366,470 (GRCm39) |
intron |
probably benign |
|
|
R5051:Il1rl2
|
UTSW |
1 |
40,382,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5239:Il1rl2
|
UTSW |
1 |
40,404,255 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5447:Il1rl2
|
UTSW |
1 |
40,368,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Il1rl2
|
UTSW |
1 |
40,391,017 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6162:Il1rl2
|
UTSW |
1 |
40,391,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Il1rl2
|
UTSW |
1 |
40,366,726 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6798:Il1rl2
|
UTSW |
1 |
40,404,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Il1rl2
|
UTSW |
1 |
40,404,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7855:Il1rl2
|
UTSW |
1 |
40,382,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Il1rl2
|
UTSW |
1 |
40,366,642 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8255:Il1rl2
|
UTSW |
1 |
40,404,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Il1rl2
|
UTSW |
1 |
40,366,530 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9236:Il1rl2
|
UTSW |
1 |
40,368,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Il1rl2
|
UTSW |
1 |
40,366,604 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9485:Il1rl2
|
UTSW |
1 |
40,366,470 (GRCm39) |
intron |
probably benign |
|
|
R9487:Il1rl2
|
UTSW |
1 |
40,366,470 (GRCm39) |
intron |
probably benign |
|
|
R9621:Il1rl2
|
UTSW |
1 |
40,366,470 (GRCm39) |
intron |
probably benign |
|
|
R9746:Il1rl2
|
UTSW |
1 |
40,404,519 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Il1rl2
|
UTSW |
1 |
40,366,470 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation