Incidental Mutation 'R5051:Il1rl2'
| ID |
394625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rl2
|
| Ensembl Gene |
ENSMUSG00000070942 |
| Gene Name |
interleukin 1 receptor-like 2 |
| Synonyms |
|
| MMRRC Submission |
042641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5051 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40363770-40406722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40382254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 189
(V189I)
|
| 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: V189I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000092630
Gene: ENSMUSG00000070942
AA Change: V189I
| 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: V189I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142248
Gene: ENSMUSG00000070942
AA Change: V189I
| 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 |
0.4009 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| Validation Efficiency |
98% (62/63) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
G |
A |
11: 25,718,990 (GRCm39) |
T51I |
unknown |
Het |
| Alms1 |
C |
T |
6: 85,604,916 (GRCm39) |
Q2189* |
probably null |
Het |
| Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
| Ap3d1 |
T |
G |
10: 80,555,033 (GRCm39) |
T431P |
probably damaging |
Het |
| Arnt |
A |
G |
3: 95,377,648 (GRCm39) |
T125A |
probably benign |
Het |
| Atp10a |
TGTCCGTC |
TGTC |
7: 58,389,994 (GRCm39) |
|
probably null |
Het |
| Bscl2 |
A |
T |
19: 8,822,643 (GRCm39) |
R195* |
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,508,081 (GRCm39) |
V656I |
possibly damaging |
Het |
| Ccn6 |
A |
G |
10: 39,031,152 (GRCm39) |
F124L |
probably benign |
Het |
| Ccr4 |
T |
C |
9: 114,321,714 (GRCm39) |
Y117C |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,376,085 (GRCm39) |
D355V |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,749,558 (GRCm39) |
I259N |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,793,020 (GRCm39) |
I252V |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,696,472 (GRCm39) |
V895A |
probably benign |
Het |
| Ect2 |
A |
G |
3: 27,156,635 (GRCm39) |
V775A |
probably benign |
Het |
| Gm14486 |
T |
C |
2: 30,548,889 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,756,393 (GRCm39) |
N444S |
possibly damaging |
Het |
| Heatr5b |
T |
C |
17: 79,102,703 (GRCm39) |
D1225G |
probably damaging |
Het |
| Kif1a |
G |
A |
1: 93,003,876 (GRCm39) |
|
probably null |
Het |
| Ltbr |
T |
A |
6: 125,289,733 (GRCm39) |
T154S |
probably damaging |
Het |
| Mrgpra6 |
C |
T |
7: 46,835,690 (GRCm39) |
V244I |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,378,251 (GRCm39) |
|
probably null |
Het |
| Ndufs1 |
A |
G |
1: 63,204,106 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,268,913 (GRCm39) |
N496K |
possibly damaging |
Het |
| Nkd2 |
A |
G |
13: 73,973,195 (GRCm39) |
V147A |
probably benign |
Het |
| Nlrp3 |
G |
C |
11: 59,457,025 (GRCm39) |
R1013P |
probably benign |
Het |
| Or4d11 |
C |
A |
19: 12,013,288 (GRCm39) |
V273F |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,599 (GRCm39) |
Y258* |
probably null |
Het |
| Pdk2 |
T |
C |
11: 94,919,598 (GRCm39) |
S263G |
probably benign |
Het |
| Pla2g4e |
T |
A |
2: 120,004,785 (GRCm39) |
I520F |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,263,688 (GRCm39) |
T196A |
probably benign |
Het |
| Podn |
T |
A |
4: 107,872,043 (GRCm39) |
D400V |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,943,357 (GRCm39) |
V147A |
possibly damaging |
Het |
| Prkar2a |
A |
G |
9: 108,622,690 (GRCm39) |
N315D |
probably benign |
Het |
| Rac2 |
A |
G |
15: 78,449,134 (GRCm39) |
I13T |
possibly damaging |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Relch |
T |
A |
1: 105,619,711 (GRCm39) |
N313K |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,279,196 (GRCm39) |
I240S |
probably damaging |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tead4 |
A |
C |
6: 128,271,262 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,460,019 (GRCm39) |
A444V |
possibly damaging |
Het |
| Tgds |
A |
T |
14: 118,365,639 (GRCm39) |
I73K |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,612,794 (GRCm39) |
T110K |
probably damaging |
Het |
| Trim30a |
T |
A |
7: 104,060,913 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,548,636 (GRCm39) |
T636I |
probably damaging |
Het |
| Ybey |
G |
A |
10: 76,304,173 (GRCm39) |
R10W |
probably damaging |
Het |
| Zap70 |
A |
G |
1: 36,820,532 (GRCm39) |
I576V |
probably benign |
Het |
| Zfp64 |
T |
C |
2: 168,768,304 (GRCm39) |
D436G |
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 |
|
|
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'- CCACAGGTTGAGGAACAGTG -3'
(R):5'- CCTGATCTATCACCAGCATGG -3'
Sequencing Primer
(F):5'- GTGATATAGACACATTTCCGCACAG -3'
(R):5'- GGGGGCTCTGTACAATCAATATCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation