Incidental Mutation 'R6975:Igf2bp2'
| ID |
542437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igf2bp2
|
| Ensembl Gene |
ENSMUSG00000033581 |
| Gene Name |
insulin-like growth factor 2 mRNA binding protein 2 |
| Synonyms |
IMP2, C330012H03Rik, IMP-2 |
| MMRRC Submission |
045085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R6975 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21877759-21982049 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21880611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 494
(Q494L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100052]
[ENSMUST00000115379]
|
| AlphaFold |
Q5SF07 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100052
AA Change: Q562L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097629
Gene: ENSMUSG00000033581
AA Change: Q562L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
4 |
72 |
8.2e-11 |
SMART |
|
RRM
|
83 |
153 |
4.07e-6 |
SMART |
|
KH
|
185 |
256 |
1.28e-14 |
SMART |
|
KH
|
266 |
339 |
1.97e-15 |
SMART |
|
low complexity region
|
375 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
KH
|
419 |
490 |
1.1e-13 |
SMART |
|
KH
|
501 |
573 |
2.48e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115379
AA Change: Q494L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111037
Gene: ENSMUSG00000033581
AA Change: Q494L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
15 |
85 |
4.07e-6 |
SMART |
|
KH
|
117 |
188 |
1.28e-14 |
SMART |
|
KH
|
198 |
271 |
1.97e-15 |
SMART |
|
low complexity region
|
307 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
KH
|
351 |
422 |
1.1e-13 |
SMART |
|
KH
|
433 |
505 |
2.48e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.5888 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,687 (GRCm39) |
H100L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,856,596 (GRCm39) |
H870Q |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,623,068 (GRCm39) |
D358G |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,423,733 (GRCm39) |
S233C |
probably damaging |
Het |
| Ccdc158 |
A |
T |
5: 92,814,579 (GRCm39) |
Y82* |
probably null |
Het |
| Clba1 |
C |
T |
12: 112,773,217 (GRCm39) |
P70L |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,491,600 (GRCm39) |
D149G |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,133,608 (GRCm39) |
T83A |
probably benign |
Het |
| Endog |
A |
G |
2: 30,061,648 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,246 (GRCm39) |
E721G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,751,518 (GRCm39) |
H2033R |
probably damaging |
Het |
| Gm12830 |
T |
C |
4: 114,702,246 (GRCm39) |
M136T |
|
Het |
| Gm6871 |
T |
C |
7: 41,196,202 (GRCm39) |
|
silent |
Het |
| Hoxc4 |
T |
C |
15: 102,944,098 (GRCm39) |
S159P |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,752 (GRCm39) |
R587G |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,808,004 (GRCm39) |
Y169* |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,896,183 (GRCm39) |
N1461I |
probably damaging |
Het |
| Il23r |
C |
A |
6: 67,400,352 (GRCm39) |
K659N |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,755 (GRCm39) |
S161G |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,773 (GRCm39) |
Q96L |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,642,057 (GRCm39) |
E802G |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,086,563 (GRCm39) |
S56F |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,243 (GRCm39) |
S203T |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,734,002 (GRCm39) |
N95S |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,220,152 (GRCm39) |
S331C |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,387,539 (GRCm39) |
R1818G |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,590 (GRCm39) |
I886N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,611,062 (GRCm39) |
T362A |
probably damaging |
Het |
| Rarb |
A |
G |
14: 16,574,942 (GRCm38) |
S25P |
possibly damaging |
Het |
| Rnf121 |
A |
T |
7: 101,673,218 (GRCm39) |
|
probably null |
Het |
| Sae1 |
T |
C |
7: 16,070,712 (GRCm39) |
Y266C |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,838,031 (GRCm39) |
F85L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,530 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
| Sun2 |
G |
T |
15: 79,618,420 (GRCm39) |
Y246* |
probably null |
Het |
| Tas1r2 |
T |
A |
4: 139,397,031 (GRCm39) |
I790N |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,158,863 (GRCm39) |
T577A |
probably benign |
Het |
| Trim24 |
T |
G |
6: 37,896,427 (GRCm39) |
|
probably null |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Zbtb22 |
A |
C |
17: 34,136,938 (GRCm39) |
D361A |
probably damaging |
Het |
| Zfp276 |
T |
A |
8: 123,983,570 (GRCm39) |
C324* |
probably null |
Het |
| Zfp536 |
A |
G |
7: 37,267,952 (GRCm39) |
L488P |
probably damaging |
Het |
|
| Other mutations in Igf2bp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01074:Igf2bp2
|
APN |
16 |
21,882,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Igf2bp2
|
APN |
16 |
21,900,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02752:Igf2bp2
|
APN |
16 |
21,898,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02884:Igf2bp2
|
APN |
16 |
21,981,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03072:Igf2bp2
|
APN |
16 |
21,886,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
defender
|
UTSW |
16 |
21,889,056 (GRCm39) |
critical splice donor site |
probably null |
|
|
Ither
|
UTSW |
16 |
21,883,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Knight
|
UTSW |
16 |
21,907,849 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Petite
|
UTSW |
16 |
21,898,358 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0008:Igf2bp2
|
UTSW |
16 |
21,894,841 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0183:Igf2bp2
|
UTSW |
16 |
21,897,480 (GRCm39) |
nonsense |
probably null |
|
|
R0390:Igf2bp2
|
UTSW |
16 |
21,900,551 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0505:Igf2bp2
|
UTSW |
16 |
21,907,849 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0610:Igf2bp2
|
UTSW |
16 |
21,889,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0696:Igf2bp2
|
UTSW |
16 |
21,898,875 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0966:Igf2bp2
|
UTSW |
16 |
21,907,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:Igf2bp2
|
UTSW |
16 |
21,981,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1159:Igf2bp2
|
UTSW |
16 |
21,880,603 (GRCm39) |
splice site |
probably benign |
|
|
R1169:Igf2bp2
|
UTSW |
16 |
21,897,480 (GRCm39) |
nonsense |
probably null |
|
|
R1762:Igf2bp2
|
UTSW |
16 |
21,902,697 (GRCm39) |
nonsense |
probably null |
|
|
R2168:Igf2bp2
|
UTSW |
16 |
21,898,358 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4014:Igf2bp2
|
UTSW |
16 |
21,882,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4015:Igf2bp2
|
UTSW |
16 |
21,882,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4016:Igf2bp2
|
UTSW |
16 |
21,882,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4017:Igf2bp2
|
UTSW |
16 |
21,882,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4128:Igf2bp2
|
UTSW |
16 |
21,897,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4986:Igf2bp2
|
UTSW |
16 |
21,889,056 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5007:Igf2bp2
|
UTSW |
16 |
21,898,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Igf2bp2
|
UTSW |
16 |
21,898,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Igf2bp2
|
UTSW |
16 |
21,907,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Igf2bp2
|
UTSW |
16 |
21,894,843 (GRCm39) |
nonsense |
probably null |
|
|
R6819:Igf2bp2
|
UTSW |
16 |
21,879,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Igf2bp2
|
UTSW |
16 |
21,900,582 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7311:Igf2bp2
|
UTSW |
16 |
21,880,632 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8011:Igf2bp2
|
UTSW |
16 |
21,894,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8045:Igf2bp2
|
UTSW |
16 |
21,902,728 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8442:Igf2bp2
|
UTSW |
16 |
21,883,841 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8826:Igf2bp2
|
UTSW |
16 |
21,883,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Igf2bp2
|
UTSW |
16 |
21,897,473 (GRCm39) |
nonsense |
probably null |
|
|
R9132:Igf2bp2
|
UTSW |
16 |
21,900,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Igf2bp2
|
UTSW |
16 |
21,900,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9244:Igf2bp2
|
UTSW |
16 |
21,886,901 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9368:Igf2bp2
|
UTSW |
16 |
21,883,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9508:Igf2bp2
|
UTSW |
16 |
21,898,845 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9644:Igf2bp2
|
UTSW |
16 |
21,902,735 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0066:Igf2bp2
|
UTSW |
16 |
21,980,041 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAACCTGGCATCTGGCTG -3'
(R):5'- GCCCAAGAATTAGCTTTGGG -3'
Sequencing Primer
(F):5'- ATGGCTAGGGATGCTACACTC -3'
(R):5'- CCCAAGAATTAGCTTTGGGATGGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation