Incidental Mutation 'R7855:Il1rl2'
| ID |
607165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rl2
|
| Ensembl Gene |
ENSMUSG00000070942 |
| Gene Name |
interleukin 1 receptor-like 2 |
| Synonyms |
|
| MMRRC Submission |
045908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40363770-40406722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 40382279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 197
(Y197S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095020]
[ENSMUST00000194296]
|
| AlphaFold |
Q9ERS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095020
AA Change: Y197S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092630
Gene: ENSMUSG00000070942
AA Change: Y197S
| 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: Y197S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142248
Gene: ENSMUSG00000070942
AA Change: Y197S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,082,454 (GRCm39) |
V1173D |
probably benign |
Het |
| Ace |
A |
T |
11: 105,863,205 (GRCm39) |
M327L |
probably benign |
Het |
| Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
| Bicdl2 |
C |
T |
17: 23,884,991 (GRCm39) |
Q231* |
probably null |
Het |
| Brms1l |
A |
T |
12: 55,912,838 (GRCm39) |
D277V |
possibly damaging |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Col6a3 |
G |
T |
1: 90,738,343 (GRCm39) |
P1059T |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,986,658 (GRCm39) |
M262K |
probably benign |
Het |
| Cpxm2 |
G |
T |
7: 131,659,424 (GRCm39) |
P481Q |
possibly damaging |
Het |
| Dipk1c |
G |
A |
18: 84,748,171 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,551,286 (GRCm39) |
V2543F |
probably benign |
Het |
| Dock2 |
A |
C |
11: 34,223,698 (GRCm39) |
D1145E |
probably damaging |
Het |
| Elf3 |
G |
A |
1: 135,182,090 (GRCm39) |
R364W |
probably damaging |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,593,923 (GRCm39) |
I55T |
probably damaging |
Het |
| Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
| Gm11568 |
A |
T |
11: 99,749,010 (GRCm39) |
T72S |
unknown |
Het |
| Igkv3-1 |
C |
T |
6: 70,681,053 (GRCm39) |
A84V |
probably benign |
Het |
| Il2ra |
T |
C |
2: 11,685,147 (GRCm39) |
I161T |
possibly damaging |
Het |
| Itgb8 |
C |
T |
12: 119,130,507 (GRCm39) |
R667H |
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,667,538 (GRCm39) |
Q334* |
probably null |
Het |
| Lctl |
A |
C |
9: 64,040,498 (GRCm39) |
R480S |
possibly damaging |
Het |
| Lrba |
T |
G |
3: 86,222,737 (GRCm39) |
I617S |
possibly damaging |
Het |
| Marf1 |
G |
T |
16: 13,932,065 (GRCm39) |
H1651N |
probably benign |
Het |
| Mitf |
T |
A |
6: 97,970,157 (GRCm39) |
Y142N |
probably damaging |
Het |
| Or51v14 |
T |
A |
7: 103,260,979 (GRCm39) |
I194F |
possibly damaging |
Het |
| Or52r1 |
A |
G |
7: 102,536,835 (GRCm39) |
V175A |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,562,576 (GRCm39) |
V708A |
probably benign |
Het |
| Pinlyp |
C |
T |
7: 24,241,865 (GRCm39) |
|
probably null |
Het |
| Polh |
G |
A |
17: 46,486,174 (GRCm39) |
R382W |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,142,853 (GRCm39) |
I450N |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,238,770 (GRCm39) |
I221V |
probably benign |
Het |
| Pskh1 |
G |
T |
8: 106,639,722 (GRCm39) |
R134L |
probably benign |
Het |
| Ptpre |
A |
G |
7: 135,253,724 (GRCm39) |
N6D |
probably benign |
Het |
| Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
| Rhbdf2 |
G |
T |
11: 116,493,066 (GRCm39) |
C393* |
probably null |
Het |
| Rlf |
T |
C |
4: 121,039,888 (GRCm39) |
I174M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,721,509 (GRCm39) |
R2641* |
probably null |
Het |
| Semp2l1 |
A |
C |
1: 32,585,114 (GRCm39) |
I265M |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,672,645 (GRCm39) |
H331R |
probably benign |
Het |
| Skp2 |
A |
G |
15: 9,122,328 (GRCm39) |
S256P |
probably benign |
Het |
| Smarcd2 |
T |
C |
11: 106,158,392 (GRCm39) |
R10G |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,687,981 (GRCm39) |
L480P |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,081 (GRCm39) |
H1541R |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,556,008 (GRCm39) |
L489Q |
probably damaging |
Het |
| Ttll13 |
C |
T |
7: 79,903,845 (GRCm39) |
H258Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,522,508 (GRCm39) |
R237G |
possibly damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,149,623 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,130 (GRCm39) |
M761K |
possibly damaging |
Het |
| Vps33a |
G |
A |
5: 123,709,042 (GRCm39) |
H58Y |
possibly damaging |
Het |
| Zfp1002 |
C |
T |
2: 150,097,066 (GRCm39) |
R121Q |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp467 |
T |
C |
6: 48,416,115 (GRCm39) |
Q179R |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,067 (GRCm39) |
S721T |
possibly damaging |
Het |
| Zfta |
T |
A |
19: 7,399,621 (GRCm39) |
I456N |
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 |
|
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 |
|
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 |
|
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'- GATATAGACACATTTCCGCACAG -3'
(R):5'- CCTGATCTATCACCAGCATGG -3'
Sequencing Primer
(F):5'- CCGCACAGTTCATAGGTTAATGCTG -3'
(R):5'- GGGGGCTCTGTACAATCAATATCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation