Incidental Mutation 'R9583:Inpp4b'
| ID |
722661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp4b
|
| Ensembl Gene |
ENSMUSG00000037940 |
| Gene Name |
inositol polyphosphate-4-phosphatase, type II |
| Synonyms |
E130107I17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R9583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
82069185-82854543 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 82497555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042529]
[ENSMUST00000109852]
[ENSMUST00000169116]
[ENSMUST00000169387]
[ENSMUST00000170160]
[ENSMUST00000172031]
[ENSMUST00000213285]
[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: 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: ENSMUST00000169116
|
| SMART Domains |
Protein: ENSMUSP00000131947
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170160
|
| SMART Domains |
Protein: ENSMUSP00000132156
Gene: ENSMUSG00000037940
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131324
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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217122
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,092 (GRCm39) |
I66N |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,760,071 (GRCm39) |
I97F |
probably benign |
Het |
| AI987944 |
T |
A |
7: 41,023,937 (GRCm39) |
R350S |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,109,096 (GRCm39) |
T1214A |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,356,739 (GRCm39) |
E127G |
possibly damaging |
Het |
| Bbx |
T |
C |
16: 50,044,920 (GRCm39) |
E547G |
possibly damaging |
Het |
| Ceacam16 |
T |
C |
7: 19,587,803 (GRCm39) |
I322V |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,130,230 (GRCm39) |
N808K |
probably damaging |
Het |
| Copg2 |
A |
C |
6: 30,787,399 (GRCm39) |
L615* |
probably null |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,017 (GRCm39) |
L221P |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,856,507 (GRCm39) |
V2885L |
probably damaging |
Het |
| Dnajb13 |
A |
G |
7: 100,152,446 (GRCm39) |
L290P |
probably damaging |
Het |
| Eif3e |
A |
G |
15: 43,128,957 (GRCm39) |
V221A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,473,701 (GRCm39) |
R511* |
probably null |
Het |
| Far2 |
C |
T |
6: 148,059,434 (GRCm39) |
P250S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,686,996 (GRCm39) |
T44S |
|
Het |
| Grid1 |
A |
G |
14: 35,302,492 (GRCm39) |
E919G |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hoxb2 |
A |
G |
11: 96,242,725 (GRCm39) |
E30G |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,689,331 (GRCm39) |
P75L |
unknown |
Het |
| Il5ra |
T |
A |
6: 106,721,297 (GRCm39) |
M1L |
possibly damaging |
Het |
| Itgb8 |
T |
A |
12: 119,153,708 (GRCm39) |
H269L |
possibly damaging |
Het |
| Jrk |
G |
A |
15: 74,578,403 (GRCm39) |
A294V |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,887,782 (GRCm39) |
D2V |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,258 (GRCm39) |
I272V |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,372 (GRCm39) |
S3825P |
probably damaging |
Het |
| Mex3d |
C |
A |
10: 80,218,129 (GRCm39) |
V363L |
|
Het |
| Mfsd13b |
C |
A |
7: 120,598,134 (GRCm39) |
H347N |
possibly damaging |
Het |
| Mllt1 |
G |
T |
17: 57,209,572 (GRCm39) |
H179Q |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,678,069 (GRCm39) |
R563S |
probably benign |
Het |
| Ms4a18 |
T |
C |
19: 10,974,714 (GRCm39) |
T326A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,973 (GRCm39) |
D5440G |
probably benign |
Het |
| Muc2 |
A |
T |
7: 141,300,559 (GRCm39) |
E294V |
|
Het |
| Myh7b |
A |
G |
2: 155,459,641 (GRCm39) |
N241S |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,796,404 (GRCm39) |
I1007V |
possibly damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,893 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4a77 |
A |
G |
2: 89,487,005 (GRCm39) |
V260A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,851 (GRCm39) |
D172V |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,140,135 (GRCm39) |
S19P |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,976,723 (GRCm39) |
D588G |
probably null |
Het |
| Pkp4 |
A |
G |
2: 59,178,104 (GRCm39) |
N988D |
possibly damaging |
Het |
| Plxdc1 |
T |
C |
11: 97,824,844 (GRCm39) |
D344G |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,169 (GRCm39) |
R807H |
possibly damaging |
Het |
| Potefam3b |
T |
A |
8: 21,174,962 (GRCm39) |
F285I |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,623,142 (GRCm39) |
S237T |
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,531,642 (GRCm39) |
M661R |
possibly damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,721,061 (GRCm39) |
V10M |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,024,800 (GRCm39) |
S263P |
probably benign |
Het |
| Taf7l2 |
A |
T |
10: 115,948,931 (GRCm39) |
D198E |
probably benign |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,492 (GRCm39) |
T827I |
possibly damaging |
Het |
| Ttll1 |
T |
C |
15: 83,384,226 (GRCm39) |
T134A |
possibly damaging |
Het |
| Vmn1r196 |
G |
T |
13: 22,477,920 (GRCm39) |
M186I |
probably damaging |
Het |
| Vrk2 |
C |
T |
11: 26,433,157 (GRCm39) |
|
probably null |
Het |
| Zfp59 |
T |
A |
7: 27,554,483 (GRCm39) |
V645E |
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 |
|
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 |
|
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'- GCAGACAGACACACTCTCTG -3'
(R):5'- TTTGTGCCTAACCAATTGGC -3'
Sequencing Primer
(F):5'- TGCATGCTGTCGGCTAC -3'
(R):5'- GCCTAACCAATTGGCATTTTGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation