Incidental Mutation 'R0083:Inpp4b'
ID |
19759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp4b
|
Ensembl Gene |
ENSMUSG00000037940 |
Gene Name |
inositol polyphosphate-4-phosphatase, type II |
Synonyms |
E130107I17Rik |
MMRRC Submission |
038370-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R0083 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
82069185-82854543 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 82468091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 18
(A18E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042529]
[ENSMUST00000109852]
[ENSMUST00000169116]
[ENSMUST00000169387]
[ENSMUST00000172031]
[ENSMUST00000213285]
[ENSMUST00000217122]
[ENSMUST00000215332]
|
AlphaFold |
Q6P1Y8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042529
AA Change: A18E
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000044466 Gene: ENSMUSG00000037940 AA Change: A18E
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: ENSMUST00000109852
AA Change: A18E
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000105478 Gene: ENSMUSG00000037940 AA Change: A18E
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: A18E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000131947 Gene: ENSMUSG00000037940 AA Change: A18E
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 |
possibly damaging
Transcript: ENSMUST00000169387
AA Change: A18E
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172031
AA Change: A18E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000131324 Gene: ENSMUSG00000037940 AA Change: A18E
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 |
noncoding transcript
Transcript: ENSMUST00000172167
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213285
AA Change: A18E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217122
AA Change: A18E
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215332
AA Change: A18E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 83.1%
|
Validation Efficiency |
88% (117/133) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,667,406 (GRCm39) |
I266F |
unknown |
Het |
Adam39 |
T |
G |
8: 41,278,115 (GRCm39) |
F169V |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
G |
T |
6: 118,500,215 (GRCm39) |
H1085Q |
probably benign |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
Atp6v0d2 |
G |
A |
4: 19,880,001 (GRCm39) |
|
probably benign |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
C1qtnf3 |
G |
A |
15: 10,975,718 (GRCm39) |
V175I |
possibly damaging |
Het |
Cacna1c |
A |
G |
6: 118,602,484 (GRCm39) |
M1293T |
probably damaging |
Het |
Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
Cntn4 |
A |
G |
6: 106,502,330 (GRCm39) |
I362M |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,762,346 (GRCm39) |
D104E |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,484,832 (GRCm39) |
|
probably null |
Het |
Cul7 |
C |
A |
17: 46,966,482 (GRCm39) |
R304S |
probably benign |
Het |
Elfn2 |
A |
T |
15: 78,557,614 (GRCm39) |
L311Q |
probably damaging |
Het |
Esrrb |
T |
C |
12: 86,561,226 (GRCm39) |
L320P |
probably damaging |
Het |
Fads2b |
A |
T |
2: 85,324,476 (GRCm39) |
F283L |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
Fkbp4 |
G |
A |
6: 128,409,370 (GRCm39) |
|
probably benign |
Het |
Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,746,452 (GRCm39) |
M1273V |
probably benign |
Het |
Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
Ints13 |
A |
G |
6: 146,452,162 (GRCm39) |
Y686H |
probably benign |
Het |
Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
Krt81 |
A |
G |
15: 101,361,346 (GRCm39) |
I78T |
probably damaging |
Het |
Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
Mctp2 |
G |
T |
7: 71,878,264 (GRCm39) |
F271L |
possibly damaging |
Het |
Mrto4 |
C |
T |
4: 139,075,279 (GRCm39) |
V175I |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,283,943 (GRCm39) |
V654A |
probably damaging |
Het |
Neu2 |
A |
G |
1: 87,524,984 (GRCm39) |
Y323C |
probably damaging |
Het |
Nt5dc1 |
A |
C |
10: 34,279,760 (GRCm39) |
M94R |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,913,200 (GRCm39) |
D6939G |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
Pias4 |
A |
G |
10: 81,000,000 (GRCm39) |
S18P |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,192,496 (GRCm39) |
G34S |
possibly damaging |
Het |
Ptprj |
A |
T |
2: 90,300,121 (GRCm39) |
|
probably null |
Het |
Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
Sap130 |
C |
A |
18: 31,799,382 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
T |
18: 31,844,694 (GRCm39) |
P902S |
probably damaging |
Het |
Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,602,645 (GRCm39) |
Y72C |
probably damaging |
Het |
Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
Sppl2c |
G |
A |
11: 104,077,358 (GRCm39) |
V53I |
probably benign |
Het |
Sstr1 |
T |
A |
12: 58,260,528 (GRCm39) |
C384S |
possibly damaging |
Het |
Sulf1 |
A |
G |
1: 12,887,641 (GRCm39) |
M272V |
probably damaging |
Het |
Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
Tmem94 |
A |
G |
11: 115,687,550 (GRCm39) |
|
probably benign |
Het |
Topaz1 |
A |
T |
9: 122,604,674 (GRCm39) |
I1093L |
probably benign |
Het |
Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,030,940 (GRCm39) |
|
probably null |
Het |
Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
Zfp939 |
A |
T |
7: 39,123,534 (GRCm39) |
|
noncoding transcript |
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 |
|
PIT4280001:Inpp4b
|
UTSW |
8 |
82,761,046 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- TCTCTGAAAAGAGCACAGCGGAAC -3'
(R):5'- ACCTAGTGGCATTTGGTGGAACCC -3'
Sequencing Primer
(F):5'- AGGAACCCTGTATCTACCTTATAGC -3'
(R):5'- AACCCAGGTTTCTGTGAATGC -3'
|
Posted On |
2013-04-11 |