Incidental Mutation 'R4364:Il1rl2'
| ID |
325655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rl2
|
| Ensembl Gene |
ENSMUSG00000070942 |
| Gene Name |
interleukin 1 receptor-like 2 |
| Synonyms |
|
| MMRRC Submission |
041672-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40363770-40406722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 40390951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 298
(R298L)
|
| 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: R298L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092630
Gene: ENSMUSG00000070942
AA Change: R298L
| 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 |
noncoding transcript
Transcript: ENSMUST00000192199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194296
AA Change: R298L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142248
Gene: ENSMUSG00000070942
AA Change: R298L
| 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: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (40/43) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn |
A |
C |
12: 111,238,196 (GRCm39) |
N37H |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,827 (GRCm39) |
D301V |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,812,128 (GRCm39) |
E691G |
probably benign |
Het |
| Ccer1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
10: 97,530,232 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,891,056 (GRCm39) |
V396A |
probably damaging |
Het |
| Dhx35 |
C |
T |
2: 158,684,272 (GRCm39) |
Q516* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,812 (GRCm39) |
K1413R |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,494,391 (GRCm39) |
H856R |
possibly damaging |
Het |
| Eif4e2 |
T |
C |
1: 87,152,093 (GRCm39) |
F97L |
probably benign |
Het |
| Exoc6b |
A |
T |
6: 84,980,161 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,405,999 (GRCm39) |
S917T |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,831,488 (GRCm39) |
Y2043N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,154 (GRCm39) |
I312T |
probably damaging |
Het |
| Glipr1 |
T |
C |
10: 111,821,542 (GRCm39) |
N220S |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 34,667,989 (GRCm39) |
E172G |
probably benign |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Il7r |
T |
A |
15: 9,513,014 (GRCm39) |
H165L |
probably damaging |
Het |
| Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
| Lcn10 |
G |
T |
2: 25,574,052 (GRCm39) |
C85F |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Or4d10 |
A |
G |
19: 12,051,861 (GRCm39) |
V45A |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,985 (GRCm39) |
V127M |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
| Prkce |
C |
T |
17: 86,784,279 (GRCm39) |
T218I |
probably damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,082,294 (GRCm39) |
T445P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,899,136 (GRCm39) |
L428P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,303,987 (GRCm39) |
V789A |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,477 (GRCm39) |
V112M |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,468,774 (GRCm39) |
I51V |
probably benign |
Het |
| Ttll1 |
T |
A |
15: 83,384,195 (GRCm39) |
Q144L |
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 |
|
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'- TGTCCAGGAGAAAATGCAAATC -3'
(R):5'- CGTTAGTAAGCCTTCCCTGG -3'
Sequencing Primer
(F):5'- GAACCTCCATACATTGAGTCACTCTC -3'
(R):5'- CTGGCCATGGTTTTCAATGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation