Incidental Mutation 'R4691:Inpp4b'
ID |
354916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp4b
|
Ensembl Gene |
ENSMUSG00000037940 |
Gene Name |
inositol polyphosphate-4-phosphatase, type II |
Synonyms |
E130107I17Rik |
MMRRC Submission |
041942-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R4691 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
82069185-82854543 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82849282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 901
(Y901F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042529]
[ENSMUST00000109851]
[ENSMUST00000109852]
[ENSMUST00000169387]
[ENSMUST00000172031]
[ENSMUST00000215332]
[ENSMUST00000217122]
|
AlphaFold |
Q6P1Y8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042529
|
SMART Domains |
Protein: ENSMUSP00000044466 Gene: ENSMUSG00000037940
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
|
SMART Domains |
Protein: ENSMUSP00000105477 Gene: ENSMUSG00000037940
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
|
SMART Domains |
Protein: ENSMUSP00000105478 Gene: ENSMUSG00000037940
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: ENSMUST00000169387
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172031
AA Change: Y901F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131324 Gene: ENSMUSG00000037940 AA Change: Y901F
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 damaging
Transcript: ENSMUST00000215332
AA Change: Y901F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217122
|
Meta Mutation Damage Score |
0.1555 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
97% (70/72) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,384,195 (GRCm39) |
R3882S |
probably damaging |
Het |
Adamts2 |
G |
T |
11: 50,647,523 (GRCm39) |
V299F |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,537,159 (GRCm39) |
S65P |
probably benign |
Het |
Ap4e1 |
T |
C |
2: 126,903,791 (GRCm39) |
C898R |
probably benign |
Het |
Arel1 |
A |
T |
12: 84,977,023 (GRCm39) |
|
probably null |
Het |
Bag6 |
T |
A |
17: 35,358,224 (GRCm39) |
V164D |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,975,874 (GRCm39) |
S769P |
possibly damaging |
Het |
Cables1 |
C |
T |
18: 11,973,580 (GRCm39) |
Q240* |
probably null |
Het |
Ccnb1-ps |
T |
A |
7: 41,755,516 (GRCm39) |
|
noncoding transcript |
Het |
Ccz1 |
A |
T |
5: 143,928,380 (GRCm39) |
I390N |
possibly damaging |
Het |
Ceacam23 |
T |
A |
7: 17,642,891 (GRCm39) |
S434T |
possibly damaging |
Het |
Ces1a |
T |
C |
8: 93,759,287 (GRCm39) |
H283R |
probably benign |
Het |
Clca3b |
G |
A |
3: 144,544,853 (GRCm39) |
T378I |
probably benign |
Het |
Cpne2 |
A |
T |
8: 95,284,849 (GRCm39) |
I342F |
probably damaging |
Het |
Cyp2d9 |
A |
G |
15: 82,340,033 (GRCm39) |
D141G |
probably damaging |
Het |
Ddias |
T |
A |
7: 92,508,024 (GRCm39) |
K630N |
probably damaging |
Het |
Dennd4b |
A |
G |
3: 90,179,619 (GRCm39) |
T626A |
probably damaging |
Het |
Disc1 |
T |
C |
8: 125,875,186 (GRCm39) |
V554A |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,852,581 (GRCm39) |
T1880A |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Epop |
C |
T |
11: 97,519,719 (GRCm39) |
G130D |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,821,811 (GRCm39) |
L722P |
probably damaging |
Het |
Eya4 |
T |
A |
10: 23,015,966 (GRCm39) |
T334S |
probably benign |
Het |
Ezr |
T |
C |
17: 7,026,961 (GRCm39) |
I5V |
probably benign |
Het |
Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
Galnt12 |
T |
C |
4: 47,104,143 (GRCm39) |
S134P |
probably damaging |
Het |
Gcfc2 |
T |
A |
6: 81,918,408 (GRCm39) |
L366* |
probably null |
Het |
Gins4 |
T |
A |
8: 23,727,075 (GRCm39) |
D6V |
probably benign |
Het |
Grid1 |
A |
G |
14: 35,291,514 (GRCm39) |
H807R |
probably benign |
Het |
H2-T22 |
GTTTT |
GTTT |
17: 36,352,462 (GRCm39) |
|
probably null |
Het |
Ighv1-66 |
T |
C |
12: 115,556,929 (GRCm39) |
Y51C |
probably benign |
Het |
Irf2 |
T |
A |
8: 47,299,222 (GRCm39) |
S339T |
probably damaging |
Het |
Itgae |
G |
T |
11: 73,010,345 (GRCm39) |
G612* |
probably null |
Het |
Kdr |
T |
C |
5: 76,105,259 (GRCm39) |
K1037R |
possibly damaging |
Het |
Mro |
A |
T |
18: 74,006,397 (GRCm39) |
M115L |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,087,438 (GRCm39) |
E1098G |
probably damaging |
Het |
Nkx2-1 |
T |
A |
12: 56,580,350 (GRCm39) |
M197L |
probably benign |
Het |
Or7e165 |
T |
C |
9: 19,694,678 (GRCm39) |
I83T |
probably benign |
Het |
Pank2 |
T |
A |
2: 131,138,201 (GRCm39) |
F430L |
possibly damaging |
Het |
Pcx |
T |
A |
19: 4,669,505 (GRCm39) |
V794E |
probably damaging |
Het |
Pdgfd |
C |
T |
9: 6,288,556 (GRCm39) |
P70L |
probably damaging |
Het |
Pla2g4e |
T |
C |
2: 120,004,781 (GRCm39) |
Y521C |
probably damaging |
Het |
Pou5f1 |
T |
A |
17: 35,817,028 (GRCm39) |
F11Y |
probably damaging |
Het |
Prdm9 |
A |
G |
17: 15,773,640 (GRCm39) |
M252T |
probably benign |
Het |
Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
Rad51ap1 |
A |
G |
6: 126,904,516 (GRCm39) |
S123P |
probably benign |
Het |
Robo3 |
T |
C |
9: 37,336,514 (GRCm39) |
E418G |
probably damaging |
Het |
Sos2 |
C |
T |
12: 69,663,102 (GRCm39) |
R631H |
probably damaging |
Het |
Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
St3gal2 |
C |
T |
8: 111,684,417 (GRCm39) |
T25I |
probably benign |
Het |
Stra6l |
G |
A |
4: 45,882,851 (GRCm39) |
A521T |
probably benign |
Het |
Syt7 |
T |
A |
19: 10,403,845 (GRCm39) |
L177Q |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,191,844 (GRCm39) |
Q863H |
possibly damaging |
Het |
Tmem232 |
T |
C |
17: 65,572,237 (GRCm39) |
K585E |
possibly damaging |
Het |
Trpc6 |
A |
C |
9: 8,652,979 (GRCm39) |
E595A |
probably damaging |
Het |
Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,119 (GRCm39) |
L815* |
probably null |
Het |
Vmn2r81 |
C |
T |
10: 79,129,211 (GRCm39) |
Q701* |
probably null |
Het |
Vps13c |
T |
C |
9: 67,860,217 (GRCm39) |
V2811A |
possibly damaging |
Het |
Vsig10l2 |
T |
C |
9: 35,428,158 (GRCm39) |
S106G |
possibly damaging |
Het |
Zfp354a |
A |
G |
11: 50,961,064 (GRCm39) |
E425G |
probably damaging |
Het |
Zfp617 |
A |
T |
8: 72,686,659 (GRCm39) |
T330S |
probably benign |
Het |
Zfp663 |
G |
T |
2: 165,201,050 (GRCm39) |
|
probably benign |
Het |
Zfp84 |
T |
C |
7: 29,476,505 (GRCm39) |
L399P |
probably damaging |
Het |
Zfp869 |
A |
T |
8: 70,159,513 (GRCm39) |
C353* |
probably null |
Het |
Zscan22 |
C |
T |
7: 12,640,488 (GRCm39) |
A85V |
probably benign |
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 |
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 |
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'- GCAATAATGGTATTGGGCCTG -3'
(R):5'- TCTTCATGGGAGCAACACTC -3'
Sequencing Primer
(F):5'- TTGTAAGATGTATCATCACTTGTGG -3'
(R):5'- GAGCAACACTCATGAGCGC -3'
|
Posted On |
2015-10-21 |