Incidental Mutation 'R0898:Crlf2'
| ID |
83748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crlf2
|
| Ensembl Gene |
ENSMUSG00000033467 |
| Gene Name |
cytokine receptor-like factor 2 |
| Synonyms |
Tslpr, Ly114, Tpte2 |
| MMRRC Submission |
039058-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.328)
|
| Stock # |
R0898 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109702575-109706859 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 109705004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 67
(P67R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044579]
[ENSMUST00000198960]
[ENSMUST00000200284]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044579
AA Change: P69R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036326
Gene: ENSMUSG00000033467
AA Change: P69R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
102 |
N/A |
INTRINSIC |
|
FN3
|
117 |
196 |
2.58e-4 |
SMART |
|
low complexity region
|
210 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198960
|
| SMART Domains |
Protein: ENSMUSP00000142982
Gene: ENSMUSG00000033467
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FN3
|
1 |
52 |
2e-30 |
BLAST |
|
SCOP:d1eerb2
|
1 |
65 |
7e-8 |
SMART |
|
PDB:4NN7|C
|
1 |
66 |
2e-41 |
PDB |
|
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200284
AA Change: P67R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143641
Gene: ENSMUSG00000033467
AA Change: P67R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
100 |
N/A |
INTRINSIC |
|
FN3
|
115 |
194 |
1.3e-6 |
SMART |
|
low complexity region
|
208 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
345 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are overtly normal and maintain normal lymphopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
T |
A |
1: 134,351,814 (GRCm39) |
|
probably null |
Het |
| Apmap |
A |
G |
2: 150,427,669 (GRCm39) |
|
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,667,221 (GRCm39) |
N442S |
probably benign |
Het |
| Bpifb5 |
C |
T |
2: 154,075,254 (GRCm39) |
A394V |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,025,964 (GRCm39) |
T346A |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,383,055 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,373,153 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
C |
10: 117,512,011 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,679 (GRCm39) |
Y117H |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,773 (GRCm39) |
F98L |
probably damaging |
Het |
| Fmn2 |
G |
A |
1: 174,331,026 (GRCm39) |
G472E |
unknown |
Het |
| Gcdh |
T |
C |
8: 85,620,189 (GRCm39) |
H41R |
possibly damaging |
Het |
| Gm7713 |
A |
C |
15: 59,866,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb1 |
T |
C |
4: 131,962,093 (GRCm39) |
T189A |
probably benign |
Het |
| Iqck |
G |
A |
7: 118,570,664 (GRCm39) |
C272Y |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,904,490 (GRCm39) |
|
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,496 (GRCm39) |
I169V |
probably benign |
Het |
| Or14j8 |
T |
C |
17: 38,263,127 (GRCm39) |
T263A |
probably benign |
Het |
| Or8c20 |
G |
A |
9: 38,260,738 (GRCm39) |
V120M |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,026,111 (GRCm39) |
I569V |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,229,063 (GRCm39) |
T1096S |
possibly damaging |
Het |
| Plscr4 |
A |
C |
9: 92,366,806 (GRCm39) |
D140A |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,479,332 (GRCm39) |
D1331G |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,248,864 (GRCm39) |
T498A |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,013,001 (GRCm39) |
L372I |
possibly damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,246,880 (GRCm39) |
N120S |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,970,859 (GRCm39) |
V846I |
possibly damaging |
Het |
| Slc16a7 |
A |
G |
10: 125,069,370 (GRCm39) |
I102T |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,349 (GRCm39) |
T506A |
probably damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,744,075 (GRCm39) |
T462A |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,224 (GRCm39) |
Y395C |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,923,480 (GRCm39) |
T266A |
probably damaging |
Het |
| Tanc1 |
C |
T |
2: 59,621,132 (GRCm39) |
T317I |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,719 (GRCm39) |
S71P |
probably damaging |
Het |
| Tpgs2 |
G |
A |
18: 25,282,207 (GRCm39) |
P115S |
probably damaging |
Het |
| Trmt10a |
C |
T |
3: 137,855,279 (GRCm39) |
P139L |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,051 (GRCm39) |
S400G |
probably benign |
Het |
|
| Other mutations in Crlf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Crlf2
|
APN |
5 |
109,705,436 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0623:Crlf2
|
UTSW |
5 |
109,705,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0623:Crlf2
|
UTSW |
5 |
109,705,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0732:Crlf2
|
UTSW |
5 |
109,705,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1277:Crlf2
|
UTSW |
5 |
109,705,466 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1674:Crlf2
|
UTSW |
5 |
109,706,669 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1912:Crlf2
|
UTSW |
5 |
109,705,007 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5276:Crlf2
|
UTSW |
5 |
109,705,501 (GRCm39) |
unclassified |
probably benign |
|
|
R5418:Crlf2
|
UTSW |
5 |
109,704,899 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5984:Crlf2
|
UTSW |
5 |
109,703,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Crlf2
|
UTSW |
5 |
109,704,897 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7437:Crlf2
|
UTSW |
5 |
109,702,839 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8404:Crlf2
|
UTSW |
5 |
109,704,917 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8502:Crlf2
|
UTSW |
5 |
109,704,917 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACATCATCAGAGCACTGCC -3'
(R):5'- GGTCTGTGACTTCCTGTCGGAATC -3'
Sequencing Primer
(F):5'- ATCAGGCAACTTCCTGCG -3'
(R):5'- GGGACGGTACTTCCTTTCAGAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation