Incidental Mutation 'R7235:Inpp5b'
| ID |
562749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5b
|
| Ensembl Gene |
ENSMUSG00000028894 |
| Gene Name |
inositol polyphosphate-5-phosphatase B |
| Synonyms |
75kDa |
| MMRRC Submission |
045305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R7235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
124635643-124695304 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124645185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 158
(K158E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094782]
[ENSMUST00000153837]
[ENSMUST00000154229]
[ENSMUST00000184454]
|
| AlphaFold |
Q8K337 |
| PDB Structure |
A PH domain within OCRL bridges clathrin mediated membrane trafficking to phosphoinositide metabolism [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094782
AA Change: K158E
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000092375
Gene: ENSMUSG00000028894
AA Change: K158E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INPP5B_PH
|
1 |
150 |
4.3e-61 |
PFAM |
|
low complexity region
|
206 |
220 |
N/A |
INTRINSIC |
|
IPPc
|
343 |
644 |
6.29e-126 |
SMART |
|
Blast:RhoGAP
|
706 |
732 |
1e-7 |
BLAST |
|
Blast:RhoGAP
|
755 |
809 |
2e-24 |
BLAST |
|
RhoGAP
|
827 |
993 |
6.77e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153837
AA Change: K158E
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000122568
Gene: ENSMUSG00000028894
AA Change: K158E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KIG|A
|
1 |
156 |
1e-113 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154229
AA Change: K204E
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000115176
Gene: ENSMUSG00000028894
AA Change: K204E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KIG|A
|
1 |
202 |
1e-104 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184454
AA Change: K158E
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139221
Gene: ENSMUSG00000028894
AA Change: K158E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KIG|A
|
1 |
156 |
1e-105 |
PDB |
|
low complexity region
|
206 |
220 |
N/A |
INTRINSIC |
|
IPPc
|
343 |
644 |
6.29e-126 |
SMART |
|
PDB:3QBT|H
|
645 |
782 |
6e-49 |
PDB |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the inositol polyphosphate-5-phosphatase (INPP5) family. This protein hydrolyzes the 5' phosphate from phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol-1,4,5-trisphosphate, which results in changes to multiple signaling pathways. This protein may be involved in protein trafficking and secretion. Homozygous knockout mice exhibit impaired spermatogenesis and male sterility. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null male mice are infertile with a disruption in spermatogenesis and a defect in adherens junctions processing. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(24) : Targeted(6) Gene trapped(18)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,852 (GRCm39) |
M3712K |
unknown |
Het |
| Bri3bp |
A |
G |
5: 125,518,748 (GRCm39) |
E8G |
unknown |
Het |
| Brip1 |
C |
T |
11: 86,029,701 (GRCm39) |
R611Q |
possibly damaging |
Het |
| Carm1 |
T |
G |
9: 21,498,701 (GRCm39) |
|
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,939,892 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,821,422 (GRCm39) |
L176H |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,167,012 (GRCm39) |
D330G |
probably damaging |
Het |
| Dcdc2c |
A |
G |
12: 28,520,718 (GRCm39) |
S453P |
|
Het |
| Ddx46 |
G |
A |
13: 55,811,053 (GRCm39) |
V550I |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,691,073 (GRCm39) |
N676D |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,631,893 (GRCm39) |
N1365S |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,532,480 (GRCm39) |
V508A |
probably benign |
Het |
| Dus2 |
T |
C |
8: 106,742,587 (GRCm39) |
V39A |
possibly damaging |
Het |
| Dync1li1 |
T |
C |
9: 114,544,231 (GRCm39) |
V301A |
possibly damaging |
Het |
| Efcc1 |
T |
G |
6: 87,730,780 (GRCm39) |
S513A |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,537,295 (GRCm39) |
V167A |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,421,139 (GRCm39) |
Y404H |
probably damaging |
Het |
| Eqtn |
A |
T |
4: 94,811,936 (GRCm39) |
D152E |
probably damaging |
Het |
| Ercc5 |
A |
C |
1: 44,217,363 (GRCm39) |
K902T |
possibly damaging |
Het |
| Erlec1 |
T |
A |
11: 30,900,751 (GRCm39) |
E139V |
possibly damaging |
Het |
| Evl |
G |
A |
12: 108,614,719 (GRCm39) |
G38R |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,330,563 (GRCm39) |
H248P |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,468 (GRCm39) |
N184S |
unknown |
Het |
| Frem3 |
T |
C |
8: 81,417,354 (GRCm39) |
Y2020H |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,264,198 (GRCm39) |
F384L |
probably damaging |
Het |
| Grin2a |
A |
G |
16: 9,397,129 (GRCm39) |
L986P |
probably damaging |
Het |
| Ift140 |
A |
T |
17: 25,239,619 (GRCm39) |
D92V |
possibly damaging |
Het |
| Iscu |
T |
A |
5: 113,914,943 (GRCm39) |
S152T |
probably benign |
Het |
| Isl2 |
C |
T |
9: 55,451,455 (GRCm39) |
T115I |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,996,131 (GRCm39) |
T1542S |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,404,285 (GRCm39) |
D454G |
possibly damaging |
Het |
| Kcnj10 |
T |
C |
1: 172,196,993 (GRCm39) |
I169T |
probably damaging |
Het |
| Klk12 |
T |
C |
7: 43,422,723 (GRCm39) |
S217P |
probably damaging |
Het |
| Lancl1 |
T |
C |
1: 67,077,694 (GRCm39) |
N14S |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,807 (GRCm39) |
Y899C |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Nr1h5 |
C |
T |
3: 102,856,358 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 101,774,491 (GRCm39) |
T1515A |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,971,666 (GRCm39) |
V2183G |
probably damaging |
Het |
| Or52n2 |
C |
T |
7: 104,541,926 (GRCm39) |
R303Q |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,105,288 (GRCm39) |
T248A |
probably benign |
Het |
| Pias3 |
T |
A |
3: 96,611,679 (GRCm39) |
S533T |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,317,573 (GRCm39) |
Y680H |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,763,659 (GRCm39) |
N436S |
probably benign |
Het |
| Pold1 |
T |
A |
7: 44,191,244 (GRCm39) |
M196L |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,532,127 (GRCm39) |
V1464I |
probably benign |
Het |
| Ptk2b |
G |
A |
14: 66,394,536 (GRCm39) |
Q857* |
probably null |
Het |
| Qars1 |
T |
A |
9: 108,387,331 (GRCm39) |
L185Q |
probably damaging |
Het |
| Rabep1 |
A |
G |
11: 70,831,290 (GRCm39) |
N859S |
probably benign |
Het |
| Rnf19b |
A |
G |
4: 128,977,571 (GRCm39) |
H156R |
|
Het |
| Sart3 |
T |
C |
5: 113,891,703 (GRCm39) |
Q423R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
C |
T |
7: 44,930,182 (GRCm39) |
H194Y |
probably damaging |
Het |
| Tcf4 |
G |
A |
18: 69,790,866 (GRCm39) |
V420I |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,968,321 (GRCm39) |
D701G |
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,251,761 (GRCm39) |
D46G |
probably damaging |
Het |
| Usp19 |
C |
T |
9: 108,372,123 (GRCm39) |
R429* |
probably null |
Het |
| Uxs1 |
T |
C |
1: 43,804,087 (GRCm39) |
N276S |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,588,078 (GRCm39) |
I684V |
probably benign |
Het |
| Yars2 |
T |
A |
16: 16,122,556 (GRCm39) |
D307E |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,665,964 (GRCm39) |
C258S |
|
Het |
|
| Other mutations in Inpp5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Inpp5b
|
APN |
4 |
124,678,168 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00696:Inpp5b
|
APN |
4 |
124,636,328 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL00969:Inpp5b
|
APN |
4 |
124,677,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01401:Inpp5b
|
APN |
4 |
124,639,880 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01481:Inpp5b
|
APN |
4 |
124,694,492 (GRCm39) |
splice site |
probably null |
|
|
IGL01517:Inpp5b
|
APN |
4 |
124,676,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03085:Inpp5b
|
APN |
4 |
124,686,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03178:Inpp5b
|
APN |
4 |
124,679,047 (GRCm39) |
missense |
probably benign |
0.02 |
|
reduced
|
UTSW |
4 |
124,686,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0042:Inpp5b
|
UTSW |
4 |
124,691,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0504:Inpp5b
|
UTSW |
4 |
124,676,201 (GRCm39) |
nonsense |
probably null |
|
|
R0531:Inpp5b
|
UTSW |
4 |
124,689,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1396:Inpp5b
|
UTSW |
4 |
124,682,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1626:Inpp5b
|
UTSW |
4 |
124,677,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Inpp5b
|
UTSW |
4 |
124,687,069 (GRCm39) |
nonsense |
probably null |
|
|
R2037:Inpp5b
|
UTSW |
4 |
124,692,092 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2119:Inpp5b
|
UTSW |
4 |
124,691,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2132:Inpp5b
|
UTSW |
4 |
124,678,961 (GRCm39) |
splice site |
probably benign |
|
|
R2190:Inpp5b
|
UTSW |
4 |
124,678,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3237:Inpp5b
|
UTSW |
4 |
124,674,279 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3800:Inpp5b
|
UTSW |
4 |
124,679,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Inpp5b
|
UTSW |
4 |
124,677,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4827:Inpp5b
|
UTSW |
4 |
124,637,643 (GRCm39) |
intron |
probably benign |
|
|
R4865:Inpp5b
|
UTSW |
4 |
124,645,288 (GRCm39) |
missense |
probably benign |
|
|
R4868:Inpp5b
|
UTSW |
4 |
124,645,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4913:Inpp5b
|
UTSW |
4 |
124,674,214 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5055:Inpp5b
|
UTSW |
4 |
124,636,824 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5068:Inpp5b
|
UTSW |
4 |
124,636,442 (GRCm39) |
splice site |
probably null |
|
|
R5208:Inpp5b
|
UTSW |
4 |
124,645,110 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5642:Inpp5b
|
UTSW |
4 |
124,676,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5875:Inpp5b
|
UTSW |
4 |
124,674,199 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6015:Inpp5b
|
UTSW |
4 |
124,692,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6288:Inpp5b
|
UTSW |
4 |
124,679,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6450:Inpp5b
|
UTSW |
4 |
124,686,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Inpp5b
|
UTSW |
4 |
124,679,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Inpp5b
|
UTSW |
4 |
124,645,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7659:Inpp5b
|
UTSW |
4 |
124,689,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Inpp5b
|
UTSW |
4 |
124,678,881 (GRCm39) |
splice site |
probably null |
|
|
R8348:Inpp5b
|
UTSW |
4 |
124,678,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8509:Inpp5b
|
UTSW |
4 |
124,637,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9430:Inpp5b
|
UTSW |
4 |
124,636,340 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9794:Inpp5b
|
UTSW |
4 |
124,687,174 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Inpp5b
|
UTSW |
4 |
124,691,633 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTTGGATTTCAGATACAAGCTGAG -3'
(R):5'- ATGCATCTCCTCCGCCAATAG -3'
Sequencing Primer
(F):5'- TTTCAGATACAAGCTGAGCAGGAG -3'
(R):5'- TAGAAATTCCGGCTCCTCAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation