Incidental Mutation 'R1679:Il1rl2'
| ID |
188328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rl2
|
| Ensembl Gene |
ENSMUSG00000070942 |
| Gene Name |
interleukin 1 receptor-like 2 |
| Synonyms |
|
| MMRRC Submission |
039715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40363770-40406722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40382320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 211
(T211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095020]
[ENSMUST00000194296]
|
| AlphaFold |
Q9ERS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095020
AA Change: T211A
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092630
Gene: ENSMUSG00000070942
AA Change: T211A
| 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 benign
Transcript: ENSMUST00000194296
AA Change: T211A
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142248
Gene: ENSMUSG00000070942
AA Change: T211A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adam6a |
A |
G |
12: 113,508,376 (GRCm39) |
M250V |
probably benign |
Het |
| Adgre5 |
C |
A |
8: 84,456,034 (GRCm39) |
R254L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,707,671 (GRCm39) |
L525Q |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,210 (GRCm39) |
I205F |
probably benign |
Het |
| Bmp5 |
T |
C |
9: 75,746,877 (GRCm39) |
V245A |
probably benign |
Het |
| Capn8 |
T |
C |
1: 182,441,032 (GRCm39) |
S489P |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,533,316 (GRCm39) |
L76P |
probably damaging |
Het |
| Cd164l2 |
A |
G |
4: 132,948,810 (GRCm39) |
T49A |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,880,348 (GRCm39) |
T129A |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,761,553 (GRCm39) |
D847G |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,508,228 (GRCm39) |
A11T |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,832,082 (GRCm39) |
L1449H |
possibly damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,736 (GRCm39) |
K276* |
probably null |
Het |
| Cyp2c50 |
C |
A |
19: 40,099,859 (GRCm39) |
T430K |
possibly damaging |
Het |
| Ddb2 |
C |
T |
2: 91,064,595 (GRCm39) |
R105Q |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,077,543 (GRCm39) |
Y900H |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,914,001 (GRCm39) |
F100L |
probably damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,940,970 (GRCm39) |
G542D |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,843 (GRCm39) |
|
probably null |
Het |
| Gm21886 |
T |
C |
18: 80,132,954 (GRCm39) |
Y68C |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,784,492 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Incenp |
T |
C |
19: 9,872,778 (GRCm39) |
D16G |
unknown |
Het |
| Isg20l2 |
T |
A |
3: 87,839,392 (GRCm39) |
M201K |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,314,822 (GRCm39) |
S405R |
probably damaging |
Het |
| Kdsr |
T |
A |
1: 106,680,956 (GRCm39) |
I81F |
probably benign |
Het |
| Leprotl1 |
T |
G |
8: 34,607,986 (GRCm39) |
L7F |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,700,373 (GRCm39) |
I60K |
probably damaging |
Het |
| Mto1 |
A |
G |
9: 78,372,245 (GRCm39) |
T572A |
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,332,396 (GRCm39) |
T2287I |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,422 (GRCm39) |
T40A |
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,746,438 (GRCm39) |
S550P |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,859 (GRCm39) |
N286I |
probably damaging |
Het |
| Phactr1 |
G |
A |
13: 43,210,756 (GRCm39) |
V193I |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,248,257 (GRCm39) |
Y317F |
possibly damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,250 (GRCm39) |
|
probably null |
Het |
| Rictor |
T |
C |
15: 6,797,571 (GRCm39) |
I309T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,391 (GRCm39) |
D216G |
probably damaging |
Het |
| Slc20a2 |
T |
G |
8: 23,028,846 (GRCm39) |
S106A |
possibly damaging |
Het |
| Srprb |
A |
G |
9: 103,069,406 (GRCm39) |
|
probably benign |
Het |
| Stx11 |
A |
T |
10: 12,817,580 (GRCm39) |
I48N |
probably damaging |
Het |
| Vmn1r29 |
A |
T |
6: 58,285,003 (GRCm39) |
Y241F |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,192 (GRCm39) |
C347* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,785,956 (GRCm39) |
V361A |
possibly 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 |
|
IGL03269:Il1rl2
|
APN |
1 |
40,404,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAACCCACAGGTTGAGGAAC -3'
(R):5'- TGCTGGACGCTGACACTTTGGTAG -3'
Sequencing Primer
(F):5'- CCGCACAGTTCATAGGTTAATGC -3'
(R):5'- GCTGAGAACCAAGCAACCAT -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation