Incidental Mutation 'R3690:Inppl1'
| ID |
269728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inppl1
|
| Ensembl Gene |
ENSMUSG00000032737 |
| Gene Name |
inositol polyphosphate phosphatase-like 1 |
| Synonyms |
SHIP2 |
| MMRRC Submission |
040685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
R3690 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101471839-101487419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101481275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 268
(L268P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035836]
[ENSMUST00000165052]
[ENSMUST00000185929]
|
| AlphaFold |
Q6P549 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035836
AA Change: L268P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: L268P
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
1.21e-26 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
5e-14 |
BLAST |
|
IPPc
|
423 |
736 |
3.98e-137 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
SAM
|
1192 |
1257 |
2.47e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098239
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165052
AA Change: L268P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: L268P
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
1.21e-26 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
5e-14 |
BLAST |
|
IPPc
|
423 |
736 |
3.98e-137 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
SAM
|
1192 |
1257 |
2.47e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185929
AA Change: L268P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: L268P
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
7.6e-29 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
4e-14 |
BLAST |
|
IPPc
|
423 |
736 |
1.9e-139 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211514
|
| Meta Mutation Damage Score |
0.7931 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| 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 an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mice display decreased postnatal growth, decreased circulating levels of leptin, free fatty acids, triglycerides, and total cholesterol, and resistance to diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,091,328 (GRCm39) |
Y629F |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,836,668 (GRCm39) |
D1081V |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,368,055 (GRCm39) |
C893R |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,754,252 (GRCm39) |
I98T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,814,957 (GRCm39) |
|
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Ddias |
G |
A |
7: 92,509,366 (GRCm39) |
P183L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,299,326 (GRCm39) |
Y42* |
probably null |
Het |
| Dusp16 |
C |
T |
6: 134,738,082 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,821,881 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,227,393 (GRCm39) |
V842A |
probably benign |
Het |
| Folr1 |
T |
C |
7: 101,507,745 (GRCm39) |
S232G |
probably benign |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,137 (GRCm39) |
M75V |
probably benign |
Het |
| Fxyd5 |
G |
T |
7: 30,735,864 (GRCm39) |
L128M |
possibly damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,349,238 (GRCm39) |
S500P |
possibly damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,841,243 (GRCm39) |
H192L |
probably benign |
Het |
| Llgl1 |
T |
G |
11: 60,597,828 (GRCm39) |
Y316D |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,801,374 (GRCm39) |
*143R |
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,318,513 (GRCm39) |
E678G |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Nav1 |
T |
A |
1: 135,395,382 (GRCm39) |
I996L |
probably benign |
Het |
| Neb |
T |
C |
2: 52,027,397 (GRCm39) |
E6868G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Nup50 |
C |
T |
15: 84,823,994 (GRCm39) |
T449M |
probably damaging |
Het |
| Or14a256 |
G |
A |
7: 86,265,686 (GRCm39) |
P56S |
probably damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,508 (GRCm39) |
F62L |
probably damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,274 (GRCm39) |
T56A |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,902 (GRCm39) |
L95P |
probably damaging |
Het |
| Or52n2 |
T |
C |
7: 104,542,724 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Pald1 |
A |
T |
10: 61,191,587 (GRCm39) |
|
probably null |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,637,817 (GRCm39) |
V312A |
possibly damaging |
Het |
| Scaper |
C |
T |
9: 55,791,205 (GRCm39) |
G231D |
probably benign |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,668,854 (GRCm39) |
M1V |
probably null |
Het |
| Smtn |
T |
C |
11: 3,477,687 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tex47 |
A |
G |
5: 7,354,777 (GRCm39) |
|
probably benign |
Het |
| Tram2 |
T |
A |
1: 21,075,824 (GRCm39) |
Y198F |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,926,547 (GRCm39) |
K442E |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,798 (GRCm39) |
F8I |
unknown |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,370 (GRCm39) |
F815S |
possibly damaging |
Het |
| Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
| Zfp579 |
T |
C |
7: 4,997,719 (GRCm39) |
H64R |
probably damaging |
Het |
|
| Other mutations in Inppl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Inppl1
|
APN |
7 |
101,478,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Inppl1
|
APN |
7 |
101,483,041 (GRCm39) |
nonsense |
probably null |
|
|
IGL01678:Inppl1
|
APN |
7 |
101,481,803 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02420:Inppl1
|
APN |
7 |
101,481,526 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02423:Inppl1
|
APN |
7 |
101,481,450 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02965:Inppl1
|
APN |
7 |
101,477,478 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03329:Inppl1
|
APN |
7 |
101,473,587 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
ditzel
|
UTSW |
7 |
101,476,663 (GRCm39) |
nonsense |
probably null |
|
|
PIT4362001:Inppl1
|
UTSW |
7 |
101,475,220 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0310:Inppl1
|
UTSW |
7 |
101,477,706 (GRCm39) |
splice site |
probably benign |
|
|
R0355:Inppl1
|
UTSW |
7 |
101,476,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0394:Inppl1
|
UTSW |
7 |
101,477,402 (GRCm39) |
splice site |
probably benign |
|
|
R0547:Inppl1
|
UTSW |
7 |
101,480,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0578:Inppl1
|
UTSW |
7 |
101,480,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1506:Inppl1
|
UTSW |
7 |
101,473,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1526:Inppl1
|
UTSW |
7 |
101,482,153 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1901:Inppl1
|
UTSW |
7 |
101,472,584 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2381:Inppl1
|
UTSW |
7 |
101,478,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Inppl1
|
UTSW |
7 |
101,481,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5637:Inppl1
|
UTSW |
7 |
101,478,055 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6227:Inppl1
|
UTSW |
7 |
101,473,506 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6409:Inppl1
|
UTSW |
7 |
101,478,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Inppl1
|
UTSW |
7 |
101,481,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6752:Inppl1
|
UTSW |
7 |
101,481,749 (GRCm39) |
nonsense |
probably null |
|
|
R7095:Inppl1
|
UTSW |
7 |
101,476,663 (GRCm39) |
nonsense |
probably null |
|
|
R7196:Inppl1
|
UTSW |
7 |
101,477,993 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7421:Inppl1
|
UTSW |
7 |
101,482,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7575:Inppl1
|
UTSW |
7 |
101,477,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Inppl1
|
UTSW |
7 |
101,479,304 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7767:Inppl1
|
UTSW |
7 |
101,473,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8131:Inppl1
|
UTSW |
7 |
101,479,268 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8206:Inppl1
|
UTSW |
7 |
101,472,783 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8492:Inppl1
|
UTSW |
7 |
101,475,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8559:Inppl1
|
UTSW |
7 |
101,478,834 (GRCm39) |
nonsense |
probably null |
|
|
R8707:Inppl1
|
UTSW |
7 |
101,478,903 (GRCm39) |
missense |
|
|
|
R8876:Inppl1
|
UTSW |
7 |
101,472,750 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8921:Inppl1
|
UTSW |
7 |
101,472,593 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9021:Inppl1
|
UTSW |
7 |
101,480,915 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9113:Inppl1
|
UTSW |
7 |
101,475,231 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCTGCAGTGCCTTTAG -3'
(R):5'- AGGCTTGGAGATCCTGTCGAAG -3'
Sequencing Primer
(F):5'- CCTTTAGGGCCTAGAGAGAGTAG -3'
(R):5'- TGTTTGACCAGCAGAGCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation