Incidental Mutation 'R1251:Inpp4b'
| ID |
151761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4b
|
| Ensembl Gene |
ENSMUSG00000037940 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type II |
| Synonyms |
E130107I17Rik |
| MMRRC Submission |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
94 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
82069185-82854543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82617382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 220
(G220R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042529]
[ENSMUST00000109851]
[ENSMUST00000109852]
[ENSMUST00000169116]
[ENSMUST00000169387]
[ENSMUST00000170160]
[ENSMUST00000172031]
[ENSMUST00000213285]
[ENSMUST00000215332]
[ENSMUST00000217122]
|
| AlphaFold |
Q6P1Y8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042529
AA Change: G203R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940
AA Change: G203R
| 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: G88R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000105477
Gene: ENSMUSG00000037940
AA Change: G88R
| 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: G220R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940
AA Change: G220R
| 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 |
noncoding transcript
Transcript: ENSMUST00000165821
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169116
AA Change: G220R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940
AA Change: G220R
| 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: G35R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132156
Gene: ENSMUSG00000037940
AA Change: G35R
| 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: ENSMUST00000172031
AA Change: G220R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940
AA Change: G220R
| 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: ENSMUST00000213285
AA Change: G220R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215332
AA Change: G220R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217122
AA Change: G220R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216387
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,989 (GRCm39) |
Y509N |
probably damaging |
Het |
| Adcy9 |
T |
A |
16: 4,129,395 (GRCm39) |
E497V |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,225,410 (GRCm39) |
L56R |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,498,370 (GRCm39) |
M952V |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,181,181 (GRCm39) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,808,270 (GRCm39) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,873,125 (GRCm39) |
E455G |
possibly damaging |
Het |
| Copg1 |
A |
T |
6: 87,866,989 (GRCm39) |
K75* |
probably null |
Het |
| Cyp2j12 |
G |
A |
4: 96,003,903 (GRCm39) |
Q238* |
probably null |
Het |
| Eif3i |
T |
C |
4: 129,487,178 (GRCm39) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,070,259 (GRCm39) |
N411Y |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,596,404 (GRCm39) |
M305K |
probably damaging |
Het |
| Faim |
C |
T |
9: 98,874,687 (GRCm39) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 82,920,287 (GRCm39) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,249,611 (GRCm39) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,371,770 (GRCm39) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,235,582 (GRCm39) |
R21G |
probably damaging |
Het |
| Ilrun |
C |
T |
17: 28,005,044 (GRCm39) |
|
probably null |
Het |
| Irx6 |
A |
G |
8: 93,404,881 (GRCm39) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,068 (GRCm39) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,882,896 (GRCm39) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 36,058,207 (GRCm39) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,492 (GRCm39) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,284,205 (GRCm39) |
S160T |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,658 (GRCm39) |
S67P |
probably damaging |
Het |
| Or5e1 |
T |
G |
7: 108,354,114 (GRCm39) |
F17C |
probably damaging |
Het |
| Or5m9b |
G |
A |
2: 85,905,164 (GRCm39) |
V27M |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,189,544 (GRCm39) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,475 (GRCm39) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,433,246 (GRCm39) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,396,596 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 58,039,121 (GRCm39) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,159,350 (GRCm39) |
K90* |
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,745,576 (GRCm39) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,767,655 (GRCm39) |
F153S |
probably benign |
Het |
| Tube1 |
G |
T |
10: 39,010,204 (GRCm39) |
G10* |
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,890 (GRCm39) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,777,289 (GRCm39) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm39) |
D18E |
probably 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 |
|
|
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 |
|
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'- AATACTCCGGCCTTAGCATGGCTC -3'
(R):5'- ATGTTCAGCTCCCTCAAGCATGG -3'
Sequencing Primer
(F):5'- TGAGTGCCCTTTAACTAGAGC -3'
(R):5'- TCAAGCATGGAGAAAACTAAATACTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation