Incidental Mutation 'R5239:Il1rl2'
| ID |
400559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rl2
|
| Ensembl Gene |
ENSMUSG00000070942 |
| Gene Name |
interleukin 1 receptor-like 2 |
| Synonyms |
|
| MMRRC Submission |
042810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40363770-40406722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40404255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 459
(S459P)
|
| 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: S459P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000092630
Gene: ENSMUSG00000070942
AA Change: S459P
| 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: S459P
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142248
Gene: ENSMUSG00000070942
AA Change: S459P
| 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 |
0.2192 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (60/64) |
| 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 |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,848 (GRCm39) |
N168S |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,184,207 (GRCm39) |
T598S |
possibly damaging |
Het |
| Ago1 |
G |
T |
4: 126,335,008 (GRCm39) |
H405N |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,234,781 (GRCm39) |
|
probably null |
Het |
| Baz1a |
A |
G |
12: 54,945,129 (GRCm39) |
S1409P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,078,908 (GRCm39) |
E305G |
probably benign |
Het |
| Bub1 |
T |
A |
2: 127,663,616 (GRCm39) |
R262W |
probably damaging |
Het |
| Cish |
T |
A |
9: 107,177,111 (GRCm39) |
|
probably null |
Het |
| Clip4 |
T |
A |
17: 72,106,072 (GRCm39) |
I85K |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,953,532 (GRCm39) |
C187* |
probably null |
Het |
| Ddx51 |
C |
A |
5: 110,801,514 (GRCm39) |
T54K |
probably benign |
Het |
| Drc1 |
A |
T |
5: 30,520,467 (GRCm39) |
T603S |
probably benign |
Het |
| Eif3l |
T |
A |
15: 78,973,995 (GRCm39) |
M470K |
possibly damaging |
Het |
| Entpd2 |
A |
G |
2: 25,290,830 (GRCm39) |
T445A |
probably damaging |
Het |
| Epha1 |
C |
A |
6: 42,341,944 (GRCm39) |
V369L |
possibly damaging |
Het |
| Galnt9 |
T |
A |
5: 110,692,635 (GRCm39) |
L23H |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,804,866 (GRCm39) |
F399S |
probably benign |
Het |
| Gm43972 |
G |
A |
5: 25,866,119 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6489 |
T |
A |
1: 31,326,351 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
A |
T |
7: 24,764,895 (GRCm39) |
M82K |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,904,767 (GRCm39) |
Y121H |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,296,560 (GRCm39) |
I495N |
possibly damaging |
Het |
| Kel |
A |
T |
6: 41,665,048 (GRCm39) |
L254* |
probably null |
Het |
| Lasp1 |
A |
G |
11: 97,690,686 (GRCm39) |
K23E |
probably damaging |
Het |
| Lemd2 |
C |
A |
17: 27,422,773 (GRCm39) |
R207L |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,106,051 (GRCm39) |
Q1222L |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,083,269 (GRCm39) |
V1411I |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,820,709 (GRCm39) |
F851L |
probably benign |
Het |
| Myom3 |
G |
A |
4: 135,528,303 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,491,519 (GRCm39) |
L1464I |
probably benign |
Het |
| Nr2e3 |
G |
T |
9: 59,857,059 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 91,011,537 (GRCm39) |
D364G |
probably damaging |
Het |
| Or2y1 |
A |
G |
11: 49,385,555 (GRCm39) |
H65R |
possibly damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,853 (GRCm39) |
T112S |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,707,492 (GRCm39) |
S274T |
probably damaging |
Het |
| Or9g4b |
T |
G |
2: 85,616,002 (GRCm39) |
I49S |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,936,859 (GRCm39) |
S1523T |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,587,821 (GRCm39) |
|
probably null |
Het |
| Pkdcc |
C |
A |
17: 83,523,413 (GRCm39) |
H173Q |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,410,811 (GRCm39) |
L267P |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,890,021 (GRCm39) |
H80R |
probably damaging |
Het |
| Pwwp3a |
C |
T |
10: 80,064,255 (GRCm39) |
R14* |
probably null |
Het |
| Rag1 |
G |
T |
2: 101,473,300 (GRCm39) |
A614E |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,735,553 (GRCm39) |
D4075G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,758,859 (GRCm39) |
R455L |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,589,227 (GRCm39) |
N232S |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,545,524 (GRCm39) |
L360P |
probably damaging |
Het |
| Tmem26 |
T |
A |
10: 68,587,096 (GRCm39) |
F181L |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,842 (GRCm39) |
M1512V |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,655,852 (GRCm39) |
I20N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r122 |
T |
C |
7: 20,868,023 (GRCm39) |
T11A |
possibly damaging |
Het |
| Vpreb1a |
A |
T |
16: 16,686,592 (GRCm39) |
Y99* |
probably null |
Het |
| Wnt9b |
A |
T |
11: 103,622,054 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,693,559 (GRCm39) |
E604G |
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 |
|
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'- ACTTCTCTGAGCACCAGTCC -3'
(R):5'- GTGACTGCTCTGTGAAGTCC -3'
Sequencing Primer
(F):5'- AGTCCTGTCTACTGGAAAGTCC -3'
(R):5'- GTGAAGTCCCCATCCCATTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation