Incidental Mutation 'IGL02435:Igfbp2'
| ID |
293248 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igfbp2
|
| Ensembl Gene |
ENSMUSG00000039323 |
| Gene Name |
insulin-like growth factor binding protein 2 |
| Synonyms |
IGFBP-2, Igfbp-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
IGL02435
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
72863662-72891633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72891245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 281
(R281Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047328]
[ENSMUST00000120564]
|
| AlphaFold |
P47877 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047328
AA Change: R281Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046610
Gene: ENSMUSG00000039323
AA Change: R281Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
IB
|
38 |
117 |
2.08e-35 |
SMART |
|
TY
|
238 |
290 |
1.17e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120564
AA Change: R134Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112706
Gene: ENSMUSG00000039323
AA Change: R134Q
| Domain | Start | End | E-Value | Type |
|---|
|
TY
|
91 |
143 |
1.17e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155703
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is one of several similar proteins that bind insulin-like growth factors I and II (Igf-I and Igf-II). The encoded protein can be secreted into the bloodstream, where it binds Igf-I and Igf-II with high affinity, or it can remain intracellular, interacting with many different ligands. Two transcript variants, one encoding a secreted isoform and the other encoding a nonsecreted isoform, have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene results in reduced spleen, heart and kidney size and increased liver weight. Homozygotes for another allele exhibit a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
A |
G |
13: 19,323,333 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
G |
T |
17: 66,294,151 (GRCm39) |
S427R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,416,482 (GRCm39) |
T420A |
probably benign |
Het |
| Braf |
C |
T |
6: 39,623,700 (GRCm39) |
S414N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,832 (GRCm39) |
L401P |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,830,325 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,773,826 (GRCm39) |
D612V |
probably damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,977,351 (GRCm39) |
S88P |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,063,125 (GRCm39) |
N132S |
possibly damaging |
Het |
| Hamp |
G |
T |
7: 30,643,324 (GRCm39) |
Q29K |
probably benign |
Het |
| Itih3 |
C |
T |
14: 30,637,711 (GRCm39) |
A483T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,671 (GRCm39) |
Q231* |
probably null |
Het |
| Nif3l1 |
A |
G |
1: 58,487,020 (GRCm39) |
T69A |
possibly damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,039 (GRCm39) |
F157S |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,710 (GRCm39) |
V76A |
probably benign |
Het |
| Or4a72 |
A |
G |
2: 89,405,890 (GRCm39) |
F60S |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,391 (GRCm39) |
I251N |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,847 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,197,998 (GRCm39) |
|
probably null |
Het |
| Ric8b |
A |
G |
10: 84,815,940 (GRCm39) |
N194S |
probably benign |
Het |
| Rlbp1 |
A |
G |
7: 79,031,414 (GRCm39) |
F105L |
probably damaging |
Het |
| Sde2 |
G |
T |
1: 180,693,717 (GRCm39) |
K402N |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,860 (GRCm39) |
H461R |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,889,760 (GRCm39) |
I210F |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,020 (GRCm39) |
R735W |
probably damaging |
Het |
| Tspan6 |
T |
C |
X: 132,793,493 (GRCm39) |
Y186C |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,660,969 (GRCm39) |
S508P |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,961,373 (GRCm39) |
D318G |
possibly damaging |
Het |
|
| Other mutations in Igfbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Igfbp2
|
APN |
1 |
72,888,287 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1138:Igfbp2
|
UTSW |
1 |
72,888,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1688:Igfbp2
|
UTSW |
1 |
72,864,125 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2045:Igfbp2
|
UTSW |
1 |
72,891,310 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5704:Igfbp2
|
UTSW |
1 |
72,891,303 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6128:Igfbp2
|
UTSW |
1 |
72,863,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Igfbp2
|
UTSW |
1 |
72,864,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6836:Igfbp2
|
UTSW |
1 |
72,888,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Igfbp2
|
UTSW |
1 |
72,888,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7511:Igfbp2
|
UTSW |
1 |
72,891,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Igfbp2
|
UTSW |
1 |
72,888,307 (GRCm39) |
missense |
probably benign |
|
|
R8323:Igfbp2
|
UTSW |
1 |
72,888,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9080:Igfbp2
|
UTSW |
1 |
72,891,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation