Incidental Mutation 'R7421:Inppl1'
| ID |
575658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inppl1
|
| Ensembl Gene |
ENSMUSG00000032737 |
| Gene Name |
inositol polyphosphate phosphatase-like 1 |
| Synonyms |
SHIP2 |
| MMRRC Submission |
045499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
R7421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101471839-101487419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101482144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 144
(R144H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035836]
[ENSMUST00000165052]
[ENSMUST00000185929]
|
| AlphaFold |
Q6P549 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035836
AA Change: R144H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: R144H
| 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: ENSMUST00000165052
AA Change: R144H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: R144H
| 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: R144H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: R144H
| 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 |
probably benign
Transcript: ENSMUST00000210116
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
C |
2: 156,397,915 (GRCm39) |
I309T |
possibly damaging |
Het |
| Abca12 |
A |
C |
1: 71,286,295 (GRCm39) |
L2513* |
probably null |
Het |
| Abca13 |
G |
C |
11: 9,460,463 (GRCm39) |
V4158L |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,254,562 (GRCm39) |
T1880A |
possibly damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,564,783 (GRCm39) |
R585C |
probably benign |
Het |
| Arsk |
A |
C |
13: 76,210,634 (GRCm39) |
I471S |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,868 (GRCm39) |
D116G |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,998,322 (GRCm39) |
S17P |
probably benign |
Het |
| Atf5 |
T |
C |
7: 44,464,562 (GRCm39) |
E10G |
probably damaging |
Het |
| B3gntl1 |
G |
T |
11: 121,515,004 (GRCm39) |
P255T |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,014,540 (GRCm39) |
N649S |
probably damaging |
Het |
| Ccnc |
A |
G |
4: 21,743,291 (GRCm39) |
Y192C |
probably damaging |
Het |
| Cd28 |
A |
G |
1: 60,802,459 (GRCm39) |
N126S |
probably benign |
Het |
| Cep57 |
A |
G |
9: 13,721,969 (GRCm39) |
S360P |
possibly damaging |
Het |
| Ces1e |
C |
T |
8: 93,941,703 (GRCm39) |
V257I |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,969,660 (GRCm39) |
K913R |
probably benign |
Het |
| Cluap1 |
A |
T |
16: 3,758,657 (GRCm39) |
D373V |
probably damaging |
Het |
| Cnmd |
T |
C |
14: 79,882,947 (GRCm39) |
I160V |
probably benign |
Het |
| Col6a4 |
G |
A |
9: 105,897,994 (GRCm39) |
P1686S |
probably damaging |
Het |
| Coro7 |
G |
T |
16: 4,486,615 (GRCm39) |
A186E |
probably benign |
Het |
| Cuta |
T |
C |
17: 27,158,431 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,383,631 (GRCm39) |
H1098Y |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,153,711 (GRCm39) |
C345S |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,352,687 (GRCm39) |
I90K |
possibly damaging |
Het |
| Erich3 |
T |
A |
3: 154,439,198 (GRCm39) |
M280K |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,740,335 (GRCm39) |
H4L |
probably benign |
Het |
| Grk1 |
A |
T |
8: 13,455,316 (GRCm39) |
I67F |
probably damaging |
Het |
| Grm8 |
A |
C |
6: 27,762,476 (GRCm39) |
S250A |
possibly damaging |
Het |
| H2-Q6 |
A |
G |
17: 35,644,204 (GRCm39) |
E62G |
possibly damaging |
Het |
| Itga3 |
G |
T |
11: 94,959,681 (GRCm39) |
P33Q |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,739,604 (GRCm39) |
S672N |
probably damaging |
Het |
| Itpk1 |
A |
T |
12: 102,540,324 (GRCm39) |
V253E |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Mrps7 |
T |
C |
11: 115,495,717 (GRCm39) |
V85A |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,301,863 (GRCm39) |
L427P |
|
Het |
| Myef2 |
G |
T |
2: 124,952,537 (GRCm39) |
Q185K |
probably benign |
Het |
| Or1e1b-ps1 |
G |
T |
11: 73,846,335 (GRCm39) |
C273F |
unknown |
Het |
| Or4a76 |
T |
A |
2: 89,460,915 (GRCm39) |
D109V |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,289,897 (GRCm39) |
M905I |
possibly damaging |
Het |
| Pgm5 |
C |
T |
19: 24,686,663 (GRCm39) |
V515M |
probably benign |
Het |
| Pik3r1 |
A |
G |
13: 101,825,644 (GRCm39) |
I381T |
probably damaging |
Het |
| Pla2g4f |
A |
G |
2: 120,137,737 (GRCm39) |
M341T |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,056,912 (GRCm39) |
F204L |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,068,587 (GRCm39) |
S244T |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,493,500 (GRCm39) |
V50A |
unknown |
Het |
| Scn7a |
A |
C |
2: 66,505,876 (GRCm39) |
I1671S |
probably benign |
Het |
| Sco2 |
G |
A |
15: 89,255,923 (GRCm39) |
R244C |
possibly damaging |
Het |
| Skic3 |
A |
T |
13: 76,296,944 (GRCm39) |
K1100N |
probably benign |
Het |
| Slfn1 |
A |
G |
11: 83,011,967 (GRCm39) |
M28V |
possibly damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
| Slfn9 |
A |
G |
11: 82,878,562 (GRCm39) |
I189T |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,056,109 (GRCm39) |
S327R |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,573,776 (GRCm39) |
N145K |
probably benign |
Het |
| Trarg1 |
G |
A |
11: 76,585,051 (GRCm39) |
R147Q |
unknown |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Upp2 |
G |
T |
2: 58,661,586 (GRCm39) |
V130F |
possibly damaging |
Het |
| Vnn3 |
G |
A |
10: 23,741,666 (GRCm39) |
A324T |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
| Zfp39 |
A |
T |
11: 58,780,933 (GRCm39) |
C610S |
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 |
|
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 |
|
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'- GGGGCTTAGATGATCACTCAGC -3'
(R):5'- AGAAAATCCCTTCCTTGCCAG -3'
Sequencing Primer
(F):5'- CTCAGCTGGGGAAACAAGTCTC -3'
(R):5'- AAAATCCCTTCCTTGCCAGTTCTTTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation