Incidental Mutation 'R5637:Inppl1'
ID |
501261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inppl1
|
Ensembl Gene |
ENSMUSG00000032737 |
Gene Name |
inositol polyphosphate phosphatase-like 1 |
Synonyms |
SHIP2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.842)
|
Stock # |
R5637 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
101471839-101487419 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101478055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 652
(S652R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132883
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035836]
[ENSMUST00000165052]
[ENSMUST00000185929]
|
AlphaFold |
Q6P549 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035836
AA Change: S652R
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000048057 Gene: ENSMUSG00000032737 AA Change: S652R
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 benign
Transcript: ENSMUST00000165052
AA Change: S652R
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000132883 Gene: ENSMUSG00000032737 AA Change: S652R
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 benign
Transcript: ENSMUST00000185929
AA Change: S652R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000139910 Gene: ENSMUSG00000032737 AA Change: S652R
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 |
unknown
Transcript: ENSMUST00000186316
AA Change: S71R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209861
|
Predicted Effect |
unknown
Transcript: ENSMUST00000210116
AA Change: S153R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211436
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
T |
C |
1: 127,694,050 (GRCm39) |
F327L |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,841,391 (GRCm39) |
S824Y |
probably damaging |
Het |
Arfip2 |
A |
G |
7: 105,286,370 (GRCm39) |
M144T |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,158,502 (GRCm39) |
N179S |
probably damaging |
Het |
Ash2l |
T |
C |
8: 26,317,339 (GRCm39) |
Y249C |
probably damaging |
Het |
Ccndbp1 |
A |
G |
2: 120,842,165 (GRCm39) |
T141A |
probably benign |
Het |
Cd177 |
T |
A |
7: 24,455,748 (GRCm39) |
H258L |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,714,332 (GRCm39) |
W1956R |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,245,108 (GRCm39) |
|
probably null |
Het |
Cngb1 |
T |
C |
8: 95,984,549 (GRCm39) |
H420R |
probably damaging |
Het |
Cobl |
C |
T |
11: 12,246,531 (GRCm39) |
|
probably benign |
Het |
Cobll1 |
T |
C |
2: 64,956,247 (GRCm39) |
D337G |
possibly damaging |
Het |
Dmrta1 |
A |
G |
4: 89,577,068 (GRCm39) |
N175D |
probably benign |
Het |
Dnah7b |
G |
T |
1: 46,395,674 (GRCm39) |
V3859L |
possibly damaging |
Het |
Dnah7c |
A |
G |
1: 46,799,521 (GRCm39) |
|
probably null |
Het |
Dusp4 |
C |
A |
8: 35,284,451 (GRCm39) |
H255Q |
probably damaging |
Het |
Evx1 |
T |
C |
6: 52,292,751 (GRCm39) |
V134A |
possibly damaging |
Het |
F12 |
T |
C |
13: 55,570,228 (GRCm39) |
K93E |
possibly damaging |
Het |
Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,852,277 (GRCm39) |
N1267D |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,560,358 (GRCm39) |
I1383T |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gpr158 |
A |
G |
2: 21,788,083 (GRCm39) |
I575V |
probably benign |
Het |
Hdc |
A |
G |
2: 126,458,109 (GRCm39) |
V71A |
probably benign |
Het |
Helb |
G |
A |
10: 119,941,353 (GRCm39) |
T445M |
probably benign |
Het |
Itpripl1 |
T |
C |
2: 126,984,044 (GRCm39) |
D26G |
probably damaging |
Het |
Klc1 |
T |
A |
12: 111,740,842 (GRCm39) |
L106H |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,515,540 (GRCm39) |
|
probably null |
Het |
Krt6a |
T |
C |
15: 101,600,714 (GRCm39) |
D318G |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,302,762 (GRCm39) |
N2989S |
probably damaging |
Het |
Lta4h |
A |
G |
10: 93,304,731 (GRCm39) |
|
probably null |
Het |
Man1c1 |
A |
G |
4: 134,318,735 (GRCm39) |
S251P |
probably damaging |
Het |
Mapre2 |
T |
C |
18: 23,886,919 (GRCm39) |
|
probably benign |
Het |
Mfap3l |
A |
T |
8: 61,109,821 (GRCm39) |
I66F |
probably damaging |
Het |
Mvk |
A |
G |
5: 114,594,003 (GRCm39) |
E286G |
possibly damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or14a260 |
G |
A |
7: 85,984,812 (GRCm39) |
T264I |
probably benign |
Het |
Or4f52 |
T |
A |
2: 111,061,456 (GRCm39) |
K227N |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,279 (GRCm39) |
V160D |
possibly damaging |
Het |
Pcdh9 |
A |
G |
14: 94,123,198 (GRCm39) |
F991L |
possibly damaging |
Het |
Pcdha9 |
T |
C |
18: 37,131,426 (GRCm39) |
V165A |
probably benign |
Het |
Pcsk6 |
A |
G |
7: 65,618,745 (GRCm39) |
H437R |
probably damaging |
Het |
Pfas |
C |
T |
11: 68,884,149 (GRCm39) |
V589M |
probably damaging |
Het |
Prpf40a |
A |
G |
2: 53,046,746 (GRCm39) |
V288A |
possibly damaging |
Het |
Rnf183 |
T |
C |
4: 62,346,387 (GRCm39) |
D137G |
probably benign |
Het |
Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
Scap |
G |
A |
9: 110,210,640 (GRCm39) |
A991T |
possibly damaging |
Het |
Sdk2 |
C |
A |
11: 113,724,005 (GRCm39) |
V1222F |
probably damaging |
Het |
Sdr16c6 |
T |
A |
4: 4,063,232 (GRCm39) |
N181I |
possibly damaging |
Het |
Semp2l2a |
A |
T |
8: 13,887,713 (GRCm39) |
M126K |
possibly damaging |
Het |
Serpinb7 |
A |
T |
1: 107,356,037 (GRCm39) |
D20V |
probably damaging |
Het |
Sh3bp2 |
C |
A |
5: 34,718,392 (GRCm39) |
R531S |
possibly damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Sox2 |
A |
G |
3: 34,704,677 (GRCm39) |
N38S |
probably benign |
Het |
Spg7 |
C |
A |
8: 123,821,314 (GRCm39) |
Q680K |
possibly damaging |
Het |
Styk1 |
T |
C |
6: 131,277,381 (GRCm39) |
E331G |
possibly damaging |
Het |
Tkfc |
G |
A |
19: 10,571,897 (GRCm39) |
R380W |
probably benign |
Het |
Trib3 |
A |
G |
2: 152,180,410 (GRCm39) |
F261S |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,793,998 (GRCm39) |
Q62L |
possibly damaging |
Het |
Vmn2r54 |
T |
C |
7: 12,349,296 (GRCm39) |
Y762C |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,167,628 (GRCm39) |
Y627* |
probably null |
Het |
Zfp12 |
A |
G |
5: 143,231,451 (GRCm39) |
K625E |
probably damaging |
Het |
Zw10 |
T |
C |
9: 48,968,950 (GRCm39) |
V38A |
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 |
R3690:Inppl1
|
UTSW |
7 |
101,481,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R4911:Inppl1
|
UTSW |
7 |
101,481,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
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'- AGAAACCCAGCTCCTTGATG -3'
(R):5'- TATCACCTTTCTCGAGAGGCG -3'
Sequencing Primer
(F):5'- TTGATGCCCCACTGCTAAC -3'
(R):5'- GTATCTGTACCCCAGGAGATCC -3'
|
Posted On |
2017-12-01 |