Incidental Mutation 'R4223:Inpp5a'
ID |
319459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5a
|
Ensembl Gene |
ENSMUSG00000025477 |
Gene Name |
inositol polyphosphate-5-phosphatase A |
Synonyms |
|
MMRRC Submission |
041043-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4223 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
138969025-139159568 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139138821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 263
(V263A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095589
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000097975]
[ENSMUST00000106098]
|
AlphaFold |
Q7TNC9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026550
AA Change: V255A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000026550 Gene: ENSMUSG00000025477 AA Change: V255A
Domain | Start | End | E-Value | Type |
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
low complexity region
|
415 |
422 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097975
AA Change: V263A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000095589 Gene: ENSMUSG00000025477 AA Change: V263A
Domain | Start | End | E-Value | Type |
IPPc
|
25 |
408 |
1.84e-150 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106098
AA Change: V255A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101704 Gene: ENSMUSG00000025477 AA Change: V255A
Domain | Start | End | E-Value | Type |
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152475
|
Meta Mutation Damage Score |
0.1504 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (65/66) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008] PHENOTYPE: Most mice homozygous for a gene trapped allele show preweaning lethality, while surviving mice exhibit decreased body size, small cerebellum, and early-onset, slowly progressive Purkinje cell degeneration, gliosis, and ataxia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
G |
10: 78,930,286 (GRCm39) |
Y43H |
probably damaging |
Het |
Aamp |
A |
T |
1: 74,320,285 (GRCm39) |
L348Q |
probably damaging |
Het |
Abcb1b |
T |
A |
5: 8,863,722 (GRCm39) |
L226M |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,774,511 (GRCm39) |
S396P |
probably damaging |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,700,355 (GRCm39) |
D48G |
probably benign |
Het |
Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc116 |
A |
G |
16: 16,964,809 (GRCm39) |
|
probably benign |
Het |
Cmtm5 |
T |
A |
14: 55,175,376 (GRCm39) |
C51S |
probably damaging |
Het |
Cyb5rl |
T |
C |
4: 106,938,185 (GRCm39) |
V214A |
probably damaging |
Het |
Cyp4x1 |
A |
T |
4: 114,970,077 (GRCm39) |
I350N |
probably damaging |
Het |
Efcab6 |
C |
A |
15: 83,751,309 (GRCm39) |
D1498Y |
probably damaging |
Het |
Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
Epha3 |
G |
A |
16: 63,403,902 (GRCm39) |
S733L |
probably damaging |
Het |
Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
Galnt1 |
T |
C |
18: 24,371,413 (GRCm39) |
F4L |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,425,042 (GRCm39) |
S218P |
probably benign |
Het |
Gm15854 |
A |
T |
6: 129,949,426 (GRCm39) |
|
noncoding transcript |
Het |
Gm29125 |
T |
C |
1: 80,361,236 (GRCm39) |
|
noncoding transcript |
Het |
Itgb1 |
T |
G |
8: 129,440,624 (GRCm39) |
I255S |
probably damaging |
Het |
Kcp |
A |
G |
6: 29,482,257 (GRCm39) |
L1547P |
possibly damaging |
Het |
Kifc3 |
C |
A |
8: 95,836,610 (GRCm39) |
L72F |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Lrrc55 |
G |
A |
2: 85,026,460 (GRCm39) |
A188V |
possibly damaging |
Het |
Ly6i |
A |
T |
15: 74,854,884 (GRCm39) |
S9T |
probably benign |
Het |
Mfsd14b |
C |
T |
13: 65,214,422 (GRCm39) |
|
probably benign |
Het |
Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
Or4g7 |
A |
T |
2: 111,309,489 (GRCm39) |
Y120F |
probably benign |
Het |
Oxgr1 |
T |
C |
14: 120,260,025 (GRCm39) |
K61E |
probably damaging |
Het |
Pak2 |
G |
T |
16: 31,871,028 (GRCm39) |
N51K |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
Pcolce |
T |
A |
5: 137,603,389 (GRCm39) |
|
probably benign |
Het |
Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
Phf1 |
C |
T |
17: 27,156,474 (GRCm39) |
R539* |
probably null |
Het |
Plch1 |
G |
A |
3: 63,609,321 (GRCm39) |
T48I |
probably damaging |
Het |
Plekha2 |
A |
G |
8: 25,533,036 (GRCm39) |
S312P |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,872,126 (GRCm39) |
F69L |
possibly damaging |
Het |
Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
Rfc3 |
C |
A |
5: 151,574,637 (GRCm39) |
|
probably benign |
Het |
Rpa2 |
T |
G |
4: 132,504,055 (GRCm39) |
I69S |
probably damaging |
Het |
Rtn4 |
G |
A |
11: 29,656,856 (GRCm39) |
V337I |
probably benign |
Het |
Rttn |
T |
C |
18: 89,113,708 (GRCm39) |
L1709P |
probably damaging |
Het |
Sh2b2 |
G |
A |
5: 136,247,907 (GRCm39) |
P548L |
possibly damaging |
Het |
Slc12a2 |
T |
A |
18: 58,043,328 (GRCm39) |
S591T |
probably damaging |
Het |
Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
Slc38a9 |
G |
A |
13: 112,850,782 (GRCm39) |
|
probably null |
Het |
Slc9a4 |
T |
C |
1: 40,658,286 (GRCm39) |
V603A |
probably damaging |
Het |
Snx19 |
T |
G |
9: 30,339,744 (GRCm39) |
V294G |
possibly damaging |
Het |
Sp140l2 |
T |
C |
1: 85,090,278 (GRCm39) |
D83G |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
Strn3 |
C |
T |
12: 51,674,638 (GRCm39) |
R382Q |
probably damaging |
Het |
Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
Trps1 |
A |
G |
15: 50,710,044 (GRCm39) |
V98A |
probably benign |
Het |
Vmn1r220 |
T |
A |
13: 23,368,148 (GRCm39) |
M183L |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,346,837 (GRCm39) |
E3026V |
possibly damaging |
Het |
|
Other mutations in Inpp5a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00913:Inpp5a
|
APN |
7 |
139,096,637 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01354:Inpp5a
|
APN |
7 |
139,118,150 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01734:Inpp5a
|
APN |
7 |
139,034,006 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02536:Inpp5a
|
APN |
7 |
139,147,338 (GRCm39) |
missense |
probably benign |
0.17 |
IGL03023:Inpp5a
|
APN |
7 |
139,105,702 (GRCm39) |
splice site |
probably null |
|
IGL03390:Inpp5a
|
APN |
7 |
139,105,664 (GRCm39) |
missense |
probably benign |
0.01 |
Anza
|
UTSW |
7 |
139,105,654 (GRCm39) |
missense |
probably damaging |
1.00 |
borrego
|
UTSW |
7 |
139,105,586 (GRCm39) |
missense |
probably damaging |
1.00 |
Cervicalis
|
UTSW |
7 |
139,061,634 (GRCm39) |
missense |
probably damaging |
1.00 |
Joshua_tree
|
UTSW |
7 |
139,154,898 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4402001:Inpp5a
|
UTSW |
7 |
139,091,369 (GRCm39) |
missense |
probably benign |
0.02 |
R0724:Inpp5a
|
UTSW |
7 |
139,096,579 (GRCm39) |
missense |
probably benign |
0.08 |
R0940:Inpp5a
|
UTSW |
7 |
139,105,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R1258:Inpp5a
|
UTSW |
7 |
139,105,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Inpp5a
|
UTSW |
7 |
139,154,877 (GRCm39) |
missense |
probably damaging |
0.99 |
R2328:Inpp5a
|
UTSW |
7 |
139,058,010 (GRCm39) |
nonsense |
probably null |
|
R4307:Inpp5a
|
UTSW |
7 |
139,154,879 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4703:Inpp5a
|
UTSW |
7 |
139,138,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R4781:Inpp5a
|
UTSW |
7 |
139,057,921 (GRCm39) |
missense |
probably benign |
0.11 |
R4997:Inpp5a
|
UTSW |
7 |
138,980,654 (GRCm39) |
missense |
probably benign |
0.07 |
R5762:Inpp5a
|
UTSW |
7 |
139,118,097 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6014:Inpp5a
|
UTSW |
7 |
139,154,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R6381:Inpp5a
|
UTSW |
7 |
138,980,589 (GRCm39) |
missense |
probably benign |
0.00 |
R7255:Inpp5a
|
UTSW |
7 |
139,091,364 (GRCm39) |
missense |
probably damaging |
0.96 |
R7324:Inpp5a
|
UTSW |
7 |
139,105,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R7362:Inpp5a
|
UTSW |
7 |
139,158,296 (GRCm39) |
missense |
probably benign |
0.00 |
R7561:Inpp5a
|
UTSW |
7 |
139,147,338 (GRCm39) |
missense |
probably damaging |
0.99 |
R7748:Inpp5a
|
UTSW |
7 |
139,154,911 (GRCm39) |
missense |
probably damaging |
0.96 |
R8178:Inpp5a
|
UTSW |
7 |
139,118,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R8253:Inpp5a
|
UTSW |
7 |
139,061,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R8839:Inpp5a
|
UTSW |
7 |
138,969,349 (GRCm39) |
missense |
probably benign |
0.07 |
R9242:Inpp5a
|
UTSW |
7 |
139,061,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R9340:Inpp5a
|
UTSW |
7 |
138,969,380 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Inpp5a
|
UTSW |
7 |
139,105,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGAGGAAGAGCTCACAAG -3'
(R):5'- TTTTCCAACTGGAGCACGACC -3'
Sequencing Primer
(F):5'- CTGCAGGCTAAACTCCTAGATTGG -3'
(R):5'- CTGCAGGGTCAGAGATGCCTTAG -3'
|
Posted On |
2015-06-10 |