Incidental Mutation 'R8839:Inpp5a'
ID |
674323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5a
|
Ensembl Gene |
ENSMUSG00000025477 |
Gene Name |
inositol polyphosphate-5-phosphatase A |
Synonyms |
|
MMRRC Submission |
068667-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8839 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
138969025-139159568 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 138969349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 15
(V15A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000106098]
|
AlphaFold |
Q7TNC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026550
AA Change: V15A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000026550 Gene: ENSMUSG00000025477 AA Change: V15A
Domain | Start | End | E-Value | Type |
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
low complexity region
|
415 |
422 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106098
AA Change: V15A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000101704 Gene: ENSMUSG00000025477 AA Change: V15A
Domain | Start | End | E-Value | Type |
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
Meta Mutation Damage Score |
0.1323 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
C |
11: 105,889,194 (GRCm39) |
Y475H |
probably damaging |
Het |
Ankfy1 |
T |
C |
11: 72,621,392 (GRCm39) |
I226T |
probably benign |
Het |
Anln |
G |
A |
9: 22,267,468 (GRCm39) |
S825L |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,974 (GRCm39) |
Y325H |
probably damaging |
Het |
Arb2a |
A |
T |
13: 78,147,781 (GRCm39) |
H283L |
probably benign |
Het |
B3galt4 |
A |
G |
17: 34,169,867 (GRCm39) |
S124P |
possibly damaging |
Het |
Cabin1 |
T |
C |
10: 75,492,650 (GRCm39) |
I1882V |
probably benign |
Het |
Caprin2 |
A |
T |
6: 148,774,525 (GRCm39) |
S262R |
probably benign |
Het |
Csmd2 |
A |
C |
4: 128,336,681 (GRCm39) |
I1420L |
|
Het |
Cyp2b9 |
T |
G |
7: 25,900,185 (GRCm39) |
V331G |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,045,896 (GRCm39) |
M433L |
probably benign |
Het |
Edrf1 |
A |
G |
7: 133,255,644 (GRCm39) |
D597G |
probably benign |
Het |
Emc3 |
G |
A |
6: 113,496,931 (GRCm39) |
R147C |
possibly damaging |
Het |
Fkbp7 |
T |
C |
2: 76,497,581 (GRCm39) |
|
probably benign |
Het |
Flii |
T |
C |
11: 60,609,433 (GRCm39) |
T665A |
possibly damaging |
Het |
Fxr1 |
A |
G |
3: 34,100,831 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
T |
G |
6: 25,669,369 (GRCm39) |
I492L |
probably benign |
Het |
Hmg20b |
A |
C |
10: 81,184,749 (GRCm39) |
W108G |
probably damaging |
Het |
Ighv9-3 |
G |
A |
12: 114,104,385 (GRCm39) |
T93I |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,619,433 (GRCm39) |
Y376N |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,931,122 (GRCm39) |
F854L |
probably benign |
Het |
Ipo7 |
A |
T |
7: 109,641,223 (GRCm39) |
K314N |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,215,390 (GRCm39) |
C415F |
probably damaging |
Het |
Mfsd9 |
T |
C |
1: 40,813,554 (GRCm39) |
T254A |
probably benign |
Het |
Musk |
A |
G |
4: 58,286,151 (GRCm39) |
T14A |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 27,005,730 (GRCm39) |
V1438A |
|
Het |
Nnt |
A |
T |
13: 119,494,173 (GRCm39) |
V636D |
unknown |
Het |
Or10ak14 |
A |
G |
4: 118,611,411 (GRCm39) |
L110P |
probably damaging |
Het |
Or11h23 |
A |
T |
14: 50,947,957 (GRCm39) |
T57S |
possibly damaging |
Het |
Or52ae9 |
A |
G |
7: 103,390,021 (GRCm39) |
I142T |
probably benign |
Het |
Ost4 |
T |
C |
5: 31,064,935 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
T |
C |
17: 59,257,237 (GRCm39) |
T934A |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,307,046 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,389,616 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,689,038 (GRCm39) |
L413Q |
probably damaging |
Het |
S100pbp |
A |
G |
4: 129,076,000 (GRCm39) |
|
probably null |
Het |
Sec23a |
T |
C |
12: 59,037,781 (GRCm39) |
K361E |
possibly damaging |
Het |
Sema3b |
C |
T |
9: 107,478,552 (GRCm39) |
|
probably benign |
Het |
Serpina3g |
A |
G |
12: 104,204,038 (GRCm39) |
|
probably benign |
Het |
Slc23a2 |
C |
T |
2: 131,943,392 (GRCm39) |
|
silent |
Het |
Smug1 |
T |
C |
15: 103,064,247 (GRCm39) |
R225G |
possibly damaging |
Het |
Srbd1 |
T |
A |
17: 86,295,849 (GRCm39) |
I854L |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,047,474 (GRCm39) |
R417C |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,681,827 (GRCm39) |
Y384H |
probably damaging |
Het |
Trappc9 |
T |
A |
15: 72,930,087 (GRCm39) |
K90* |
probably null |
Het |
Tubgcp6 |
A |
T |
15: 88,987,681 (GRCm39) |
H1097Q |
possibly damaging |
Het |
Ugt2b37 |
A |
G |
5: 87,402,415 (GRCm39) |
L72P |
probably damaging |
Het |
Vmn2r20 |
A |
T |
6: 123,373,515 (GRCm39) |
H442Q |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,595,489 (GRCm39) |
Y398* |
probably null |
Het |
Zfhx4 |
A |
G |
3: 5,466,915 (GRCm39) |
T2383A |
probably benign |
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 |
|
R4223:Inpp5a
|
UTSW |
7 |
139,138,821 (GRCm39) |
missense |
possibly damaging |
0.72 |
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 |
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'- TGTAGATTGTGTGCAGGCCC -3'
(R):5'- GGCTTGGGAAAATCCTGGTC -3'
Sequencing Primer
(F):5'- AACTTTCCCGGCGGGTCTAATG -3'
(R):5'- GGCATCAGAGTCACACGTC -3'
|
Posted On |
2021-07-15 |