Incidental Mutation 'PIT4280001:Inpp4b'
ID |
554415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp4b
|
Ensembl Gene |
ENSMUSG00000037940 |
Gene Name |
inositol polyphosphate-4-phosphatase, type II |
Synonyms |
E130107I17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
PIT4280001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
82069185-82854543 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82761046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 647
(H647Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042529]
[ENSMUST00000109851]
[ENSMUST00000109852]
[ENSMUST00000169116]
[ENSMUST00000169387]
[ENSMUST00000170160]
[ENSMUST00000213285]
[ENSMUST00000172031]
[ENSMUST00000215332]
[ENSMUST00000217122]
|
AlphaFold |
Q6P1Y8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042529
AA Change: H630Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000044466 Gene: ENSMUSG00000037940 AA Change: H630Y
Domain | Start | End | E-Value | Type |
C2
|
40 |
147 |
1.72e0 |
SMART |
low complexity region
|
302 |
319 |
N/A |
INTRINSIC |
low complexity region
|
425 |
434 |
N/A |
INTRINSIC |
transmembrane domain
|
898 |
920 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109851
AA Change: H515Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105477 Gene: ENSMUSG00000037940 AA Change: H515Y
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
35 |
N/A |
INTRINSIC |
low complexity region
|
187 |
204 |
N/A |
INTRINSIC |
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
transmembrane domain
|
783 |
805 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109852
AA Change: H647Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105478 Gene: ENSMUSG00000037940 AA Change: H647Y
Domain | Start | End | E-Value | Type |
C2
|
40 |
164 |
5.29e0 |
SMART |
low complexity region
|
319 |
336 |
N/A |
INTRINSIC |
low complexity region
|
442 |
451 |
N/A |
INTRINSIC |
transmembrane domain
|
915 |
937 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169116
AA Change: H647Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000131947 Gene: ENSMUSG00000037940 AA Change: H647Y
Domain | Start | End | E-Value | Type |
C2
|
40 |
164 |
5.29e0 |
SMART |
low complexity region
|
319 |
336 |
N/A |
INTRINSIC |
low complexity region
|
442 |
451 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169387
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170160
AA Change: H462Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000132156 Gene: ENSMUSG00000037940 AA Change: H462Y
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
151 |
N/A |
INTRINSIC |
low complexity region
|
257 |
266 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213285
AA Change: H647Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172031
AA Change: H647Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000131324 Gene: ENSMUSG00000037940 AA Change: H647Y
Domain | Start | End | E-Value | Type |
C2
|
40 |
164 |
5.29e0 |
SMART |
low complexity region
|
319 |
336 |
N/A |
INTRINSIC |
low complexity region
|
442 |
451 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215332
AA Change: H647Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217122
AA Change: H647Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.9%
- 10x: 85.5%
- 20x: 73.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
A |
G |
11: 83,331,660 (GRCm39) |
D161G |
probably damaging |
Het |
Acer2 |
C |
T |
4: 86,805,320 (GRCm39) |
L95F |
probably damaging |
Het |
Adam15 |
C |
T |
3: 89,251,285 (GRCm39) |
|
probably null |
Het |
Aoc1l3 |
A |
T |
6: 48,964,054 (GRCm39) |
M21L |
probably benign |
Het |
Bmi1 |
T |
A |
2: 18,687,820 (GRCm39) |
Y98* |
probably null |
Het |
Cdon |
T |
C |
9: 35,398,231 (GRCm39) |
C983R |
probably damaging |
Het |
Cfap91 |
C |
T |
16: 38,153,135 (GRCm39) |
V160I |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,585,387 (GRCm39) |
R1297G |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,681,850 (GRCm39) |
M1132K |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,989,408 (GRCm39) |
R1267W |
possibly damaging |
Het |
Dnah9 |
G |
A |
11: 65,895,839 (GRCm39) |
A2512V |
probably benign |
Het |
Eri3 |
G |
A |
4: 117,439,831 (GRCm39) |
G175D |
probably damaging |
Het |
Fbxo9 |
C |
A |
9: 77,994,793 (GRCm39) |
W244L |
probably damaging |
Het |
Fgfr3 |
A |
T |
5: 33,889,576 (GRCm39) |
H343L |
probably benign |
Het |
Fmnl2 |
G |
A |
2: 53,008,208 (GRCm39) |
A803T |
unknown |
Het |
Fmnl3 |
A |
G |
15: 99,219,134 (GRCm39) |
|
probably null |
Het |
Fth1 |
C |
A |
19: 9,961,973 (GRCm39) |
A104E |
probably damaging |
Het |
Gcm1 |
T |
C |
9: 77,966,915 (GRCm39) |
Y45H |
probably damaging |
Het |
Gm5157 |
C |
G |
7: 20,919,007 (GRCm39) |
G179R |
probably damaging |
Het |
Gpr179 |
A |
G |
11: 97,234,941 (GRCm39) |
I463T |
probably damaging |
Het |
Gpr35 |
T |
C |
1: 92,910,356 (GRCm39) |
Y23H |
probably damaging |
Het |
Kif6 |
A |
T |
17: 50,062,148 (GRCm39) |
K436M |
probably benign |
Het |
Lacc1 |
T |
A |
14: 77,272,517 (GRCm39) |
Q93L |
probably damaging |
Het |
Lamc1 |
T |
C |
1: 153,119,217 (GRCm39) |
R801G |
probably damaging |
Het |
Lrp2bp |
T |
G |
8: 46,476,048 (GRCm39) |
V263G |
probably damaging |
Het |
Magi3 |
T |
A |
3: 103,961,668 (GRCm39) |
K453N |
probably damaging |
Het |
Mfsd6 |
T |
A |
1: 52,700,039 (GRCm39) |
Y703F |
probably benign |
Het |
Mms22l |
A |
G |
4: 24,581,149 (GRCm39) |
T820A |
probably benign |
Het |
Ndufa12 |
T |
C |
10: 94,034,994 (GRCm39) |
|
probably null |
Het |
Nlrp12 |
A |
T |
7: 3,290,063 (GRCm39) |
C150S |
possibly damaging |
Het |
Noc4l |
G |
A |
5: 110,799,305 (GRCm39) |
T159I |
probably benign |
Het |
Olfml2b |
T |
A |
1: 170,475,305 (GRCm39) |
C77S |
probably damaging |
Het |
Or4c12 |
A |
T |
2: 89,774,087 (GRCm39) |
I124N |
probably damaging |
Het |
Or9a4 |
C |
A |
6: 40,548,650 (GRCm39) |
T110K |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,399,374 (GRCm39) |
V784A |
probably damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,473,470 (GRCm39) |
Y369F |
probably benign |
Het |
Pkdrej |
A |
T |
15: 85,704,136 (GRCm39) |
I600N |
probably benign |
Het |
Psg19 |
T |
C |
7: 18,530,831 (GRCm39) |
I108V |
probably damaging |
Het |
Pxdn |
G |
A |
12: 30,045,327 (GRCm39) |
V539M |
probably damaging |
Het |
Resf1 |
T |
G |
6: 149,227,023 (GRCm39) |
I23S |
probably benign |
Het |
Rsbn1l |
T |
A |
5: 21,124,653 (GRCm39) |
H383L |
probably damaging |
Het |
Scamp2 |
A |
T |
9: 57,488,076 (GRCm39) |
N118I |
probably damaging |
Het |
Scn2a |
T |
C |
2: 65,546,074 (GRCm39) |
V879A |
probably damaging |
Het |
Scn8a |
G |
A |
15: 100,855,370 (GRCm39) |
E172K |
probably damaging |
Het |
Slc16a6 |
C |
T |
11: 109,349,419 (GRCm39) |
C214Y |
possibly damaging |
Het |
Stag1 |
A |
G |
9: 100,824,769 (GRCm39) |
T922A |
possibly damaging |
Het |
Tarbp1 |
T |
C |
8: 127,157,586 (GRCm39) |
H1307R |
probably damaging |
Het |
Tut1 |
T |
G |
19: 8,936,626 (GRCm39) |
V150G |
probably benign |
Het |
Ubr2 |
G |
A |
17: 47,255,789 (GRCm39) |
R1371W |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,283,487 (GRCm39) |
N394D |
probably benign |
Het |
Vmn2r63 |
T |
C |
7: 42,553,409 (GRCm39) |
T616A |
probably damaging |
Het |
Zp3 |
G |
A |
5: 136,013,318 (GRCm39) |
V217M |
possibly damaging |
Het |
|
Other mutations in Inpp4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00850:Inpp4b
|
APN |
8 |
82,583,379 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01481:Inpp4b
|
APN |
8 |
82,724,009 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01509:Inpp4b
|
APN |
8 |
82,617,332 (GRCm39) |
splice site |
probably benign |
|
IGL01515:Inpp4b
|
APN |
8 |
82,679,340 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01607:Inpp4b
|
APN |
8 |
82,737,292 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01643:Inpp4b
|
APN |
8 |
82,798,400 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01736:Inpp4b
|
APN |
8 |
82,723,968 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02154:Inpp4b
|
APN |
8 |
82,696,130 (GRCm39) |
splice site |
probably benign |
|
IGL02327:Inpp4b
|
APN |
8 |
82,768,591 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02413:Inpp4b
|
APN |
8 |
82,759,800 (GRCm39) |
missense |
probably benign |
|
IGL02652:Inpp4b
|
APN |
8 |
82,497,429 (GRCm39) |
splice site |
probably benign |
|
IGL02678:Inpp4b
|
APN |
8 |
82,583,373 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03146:Inpp4b
|
APN |
8 |
82,470,410 (GRCm39) |
missense |
possibly damaging |
0.61 |
LCD18:Inpp4b
|
UTSW |
8 |
82,419,639 (GRCm39) |
intron |
probably benign |
|
PIT4480001:Inpp4b
|
UTSW |
8 |
82,772,896 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4504001:Inpp4b
|
UTSW |
8 |
82,768,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Inpp4b
|
UTSW |
8 |
82,468,091 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0212:Inpp4b
|
UTSW |
8 |
82,497,546 (GRCm39) |
missense |
probably benign |
0.00 |
R0285:Inpp4b
|
UTSW |
8 |
82,761,145 (GRCm39) |
splice site |
probably benign |
|
R0363:Inpp4b
|
UTSW |
8 |
82,610,886 (GRCm39) |
splice site |
probably benign |
|
R0364:Inpp4b
|
UTSW |
8 |
82,723,943 (GRCm39) |
missense |
probably benign |
0.09 |
R0471:Inpp4b
|
UTSW |
8 |
82,768,528 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0550:Inpp4b
|
UTSW |
8 |
82,723,966 (GRCm39) |
missense |
probably benign |
0.00 |
R0562:Inpp4b
|
UTSW |
8 |
82,494,780 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0661:Inpp4b
|
UTSW |
8 |
82,468,091 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0693:Inpp4b
|
UTSW |
8 |
82,723,943 (GRCm39) |
missense |
probably benign |
0.09 |
R1081:Inpp4b
|
UTSW |
8 |
82,795,653 (GRCm39) |
missense |
probably damaging |
0.97 |
R1251:Inpp4b
|
UTSW |
8 |
82,617,382 (GRCm39) |
missense |
probably benign |
0.01 |
R1374:Inpp4b
|
UTSW |
8 |
82,470,445 (GRCm39) |
critical splice donor site |
probably null |
|
R1445:Inpp4b
|
UTSW |
8 |
82,679,463 (GRCm39) |
splice site |
probably null |
|
R1465:Inpp4b
|
UTSW |
8 |
82,494,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Inpp4b
|
UTSW |
8 |
82,494,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1647:Inpp4b
|
UTSW |
8 |
82,583,403 (GRCm39) |
splice site |
probably benign |
|
R1754:Inpp4b
|
UTSW |
8 |
82,497,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R1759:Inpp4b
|
UTSW |
8 |
82,494,732 (GRCm39) |
missense |
probably benign |
0.06 |
R2085:Inpp4b
|
UTSW |
8 |
82,678,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Inpp4b
|
UTSW |
8 |
82,775,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R2160:Inpp4b
|
UTSW |
8 |
82,848,004 (GRCm39) |
nonsense |
probably null |
|
R2175:Inpp4b
|
UTSW |
8 |
82,583,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R2191:Inpp4b
|
UTSW |
8 |
82,723,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R2401:Inpp4b
|
UTSW |
8 |
82,723,968 (GRCm39) |
missense |
probably benign |
0.00 |
R2475:Inpp4b
|
UTSW |
8 |
82,768,607 (GRCm39) |
missense |
probably benign |
0.09 |
R2512:Inpp4b
|
UTSW |
8 |
82,737,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R2919:Inpp4b
|
UTSW |
8 |
82,711,958 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3021:Inpp4b
|
UTSW |
8 |
82,629,467 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3423:Inpp4b
|
UTSW |
8 |
82,678,890 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3777:Inpp4b
|
UTSW |
8 |
82,768,621 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3778:Inpp4b
|
UTSW |
8 |
82,768,621 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3794:Inpp4b
|
UTSW |
8 |
82,759,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R3795:Inpp4b
|
UTSW |
8 |
82,759,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4590:Inpp4b
|
UTSW |
8 |
82,468,040 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R4602:Inpp4b
|
UTSW |
8 |
82,696,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R4691:Inpp4b
|
UTSW |
8 |
82,849,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R4924:Inpp4b
|
UTSW |
8 |
82,849,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R4992:Inpp4b
|
UTSW |
8 |
82,759,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R5219:Inpp4b
|
UTSW |
8 |
82,610,785 (GRCm39) |
missense |
probably benign |
0.01 |
R5228:Inpp4b
|
UTSW |
8 |
82,494,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R5557:Inpp4b
|
UTSW |
8 |
82,678,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R5627:Inpp4b
|
UTSW |
8 |
82,470,445 (GRCm39) |
critical splice donor site |
probably benign |
|
R5691:Inpp4b
|
UTSW |
8 |
82,617,323 (GRCm39) |
intron |
probably benign |
|
R6186:Inpp4b
|
UTSW |
8 |
82,772,863 (GRCm39) |
missense |
probably damaging |
0.99 |
R6213:Inpp4b
|
UTSW |
8 |
82,724,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R6232:Inpp4b
|
UTSW |
8 |
82,678,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R6283:Inpp4b
|
UTSW |
8 |
82,497,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Inpp4b
|
UTSW |
8 |
82,494,806 (GRCm39) |
missense |
probably benign |
0.00 |
R6309:Inpp4b
|
UTSW |
8 |
82,768,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R6360:Inpp4b
|
UTSW |
8 |
82,629,481 (GRCm39) |
missense |
probably benign |
0.20 |
R6477:Inpp4b
|
UTSW |
8 |
82,571,343 (GRCm39) |
splice site |
probably null |
|
R6773:Inpp4b
|
UTSW |
8 |
82,583,249 (GRCm39) |
intron |
probably benign |
|
R6968:Inpp4b
|
UTSW |
8 |
82,571,086 (GRCm39) |
missense |
probably benign |
0.18 |
R7147:Inpp4b
|
UTSW |
8 |
82,629,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R7318:Inpp4b
|
UTSW |
8 |
82,798,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Inpp4b
|
UTSW |
8 |
82,679,314 (GRCm39) |
splice site |
probably null |
|
R7455:Inpp4b
|
UTSW |
8 |
82,798,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R7632:Inpp4b
|
UTSW |
8 |
82,772,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R7844:Inpp4b
|
UTSW |
8 |
82,467,949 (GRCm39) |
start gained |
probably benign |
|
R7958:Inpp4b
|
UTSW |
8 |
82,696,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R8440:Inpp4b
|
UTSW |
8 |
82,768,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R9160:Inpp4b
|
UTSW |
8 |
82,610,782 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9303:Inpp4b
|
UTSW |
8 |
82,759,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9390:Inpp4b
|
UTSW |
8 |
82,497,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R9583:Inpp4b
|
UTSW |
8 |
82,497,555 (GRCm39) |
critical splice donor site |
probably null |
|
R9705:Inpp4b
|
UTSW |
8 |
82,772,890 (GRCm39) |
missense |
probably benign |
0.14 |
R9778:Inpp4b
|
UTSW |
8 |
82,775,160 (GRCm39) |
missense |
probably benign |
|
RF003:Inpp4b
|
UTSW |
8 |
82,696,150 (GRCm39) |
nonsense |
probably null |
|
Z1088:Inpp4b
|
UTSW |
8 |
82,795,560 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1176:Inpp4b
|
UTSW |
8 |
82,795,630 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATGCTGCTCTAGATCAAAGACC -3'
(R):5'- TGCCCTGTGAAACTTCTTGC -3'
Sequencing Primer
(F):5'- TATGCGCCAACTTTAGCAGC -3'
(R):5'- GTACTATCAAGCCCACTGT -3'
|
Posted On |
2019-06-07 |