Incidental Mutation 'R0724:Inpp5a'
| ID |
63816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5a
|
| Ensembl Gene |
ENSMUSG00000025477 |
| Gene Name |
inositol polyphosphate-5-phosphatase A |
| Synonyms |
|
| MMRRC Submission |
038906-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0724 (G1)
|
| Quality Score |
139 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139389109-139579652 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139516663 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 143
(I143V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000097975]
[ENSMUST00000106098]
|
| AlphaFold |
Q7TNC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026550
AA Change: I135V
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477
AA Change: I135V
| 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: ENSMUST00000097975
AA Change: I143V
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477
AA Change: I143V
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
25 |
408 |
1.84e-150 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106098
AA Change: I135V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477
AA Change: I135V
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210320
|
| Meta Mutation Damage Score |
0.0633 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 145,044,763 (GRCm38) |
E136G |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 55,852,281 (GRCm38) |
S655R |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,710,254 (GRCm38) |
V71E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,962,337 (GRCm38) |
R1077H |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,828,748 (GRCm38) |
T198A |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,592,439 (GRCm38) |
I109N |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,077,892 (GRCm38) |
I119T |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,587,374 (GRCm38) |
Y504C |
probably damaging |
Het |
| Casp1 |
C |
T |
9: 5,303,077 (GRCm38) |
P177L |
probably benign |
Het |
| Ccdc122 |
C |
A |
14: 77,092,077 (GRCm38) |
|
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,039,513 (GRCm38) |
S158P |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,050,195 (GRCm38) |
D103E |
possibly damaging |
Het |
| Clstn1 |
A |
C |
4: 149,643,624 (GRCm38) |
D583A |
possibly damaging |
Het |
| Corin |
A |
G |
5: 72,332,795 (GRCm38) |
|
probably benign |
Het |
| Cryba1 |
T |
C |
11: 77,719,457 (GRCm38) |
D144G |
probably damaging |
Het |
| Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm38) |
|
probably null |
Het |
| Dis3l |
T |
C |
9: 64,307,126 (GRCm38) |
T1027A |
possibly damaging |
Het |
| Dopey2 |
A |
G |
16: 93,762,325 (GRCm38) |
E653G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,188,677 (GRCm38) |
I1459V |
probably benign |
Het |
| Dyrk3 |
T |
C |
1: 131,130,140 (GRCm38) |
T64A |
probably benign |
Het |
| Emp2 |
C |
T |
16: 10,284,615 (GRCm38) |
C111Y |
probably benign |
Het |
| Enam |
A |
G |
5: 88,501,994 (GRCm38) |
Y454C |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,352,064 (GRCm38) |
C1328S |
probably benign |
Het |
| Gata3 |
T |
C |
2: 9,874,575 (GRCm38) |
T197A |
probably benign |
Het |
| Gm1043 |
A |
G |
5: 37,187,229 (GRCm38) |
T212A |
probably damaging |
Het |
| Gm15448 |
T |
C |
7: 3,816,872 (GRCm38) |
N564S |
possibly damaging |
Het |
| H2-Eb1 |
T |
C |
17: 34,315,032 (GRCm38) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,831,680 (GRCm38) |
H36R |
probably damaging |
Het |
| Hmgcs2 |
C |
A |
3: 98,297,001 (GRCm38) |
Y239* |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,937,055 (GRCm38) |
Y68C |
probably damaging |
Het |
| Klhdc2 |
C |
A |
12: 69,297,048 (GRCm38) |
F18L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,178,304 (GRCm38) |
Y251C |
probably damaging |
Het |
| Lrch4 |
A |
T |
5: 137,637,308 (GRCm38) |
N315I |
probably damaging |
Het |
| Map3k10 |
A |
C |
7: 27,668,355 (GRCm38) |
V286G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,005,549 (GRCm38) |
|
probably benign |
Het |
| Nlrp2 |
G |
T |
7: 5,319,222 (GRCm38) |
L809I |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,737,825 (GRCm38) |
|
probably benign |
Het |
| Olfr735 |
A |
G |
14: 50,345,917 (GRCm38) |
V175A |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 91,036,536 (GRCm38) |
D270V |
probably damaging |
Het |
| Pdia3 |
G |
A |
2: 121,432,377 (GRCm38) |
G275S |
probably damaging |
Het |
| Plcb3 |
G |
A |
19: 6,963,392 (GRCm38) |
R359C |
probably damaging |
Het |
| Plcxd3 |
G |
A |
15: 4,516,868 (GRCm38) |
S118N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,850,947 (GRCm38) |
S664P |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,323,973 (GRCm38) |
I443V |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 54,735,186 (GRCm38) |
|
probably benign |
Het |
| Smim14 |
A |
G |
5: 65,453,339 (GRCm38) |
|
probably benign |
Het |
| Sost |
C |
T |
11: 101,966,918 (GRCm38) |
C19Y |
probably benign |
Het |
| Tcaf1 |
G |
T |
6: 42,675,367 (GRCm38) |
A727E |
probably damaging |
Het |
| Thoc1 |
T |
C |
18: 9,963,829 (GRCm38) |
L144P |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,783,421 (GRCm38) |
T577S |
possibly damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,038,213 (GRCm38) |
H239Y |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,538,286 (GRCm38) |
F666S |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,540,862 (GRCm38) |
V192A |
possibly damaging |
Het |
| Zfp697 |
T |
C |
3: 98,428,166 (GRCm38) |
W416R |
probably damaging |
Het |
|
| Other mutations in Inpp5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Inpp5a
|
APN |
7 |
139,516,721 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01354:Inpp5a
|
APN |
7 |
139,538,234 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01734:Inpp5a
|
APN |
7 |
139,454,090 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02536:Inpp5a
|
APN |
7 |
139,567,422 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL03023:Inpp5a
|
APN |
7 |
139,525,786 (GRCm38) |
splice site |
probably null |
|
|
IGL03390:Inpp5a
|
APN |
7 |
139,525,748 (GRCm38) |
missense |
probably benign |
0.01 |
|
Anza
|
UTSW |
7 |
139,525,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
borrego
|
UTSW |
7 |
139,525,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Cervicalis
|
UTSW |
7 |
139,481,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Joshua_tree
|
UTSW |
7 |
139,574,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Inpp5a
|
UTSW |
7 |
139,511,453 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0940:Inpp5a
|
UTSW |
7 |
139,525,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1258:Inpp5a
|
UTSW |
7 |
139,525,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2112:Inpp5a
|
UTSW |
7 |
139,574,961 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2328:Inpp5a
|
UTSW |
7 |
139,478,094 (GRCm38) |
nonsense |
probably null |
|
|
R4223:Inpp5a
|
UTSW |
7 |
139,558,905 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4307:Inpp5a
|
UTSW |
7 |
139,574,963 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4703:Inpp5a
|
UTSW |
7 |
139,558,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4781:Inpp5a
|
UTSW |
7 |
139,478,005 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4997:Inpp5a
|
UTSW |
7 |
139,400,738 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5762:Inpp5a
|
UTSW |
7 |
139,538,181 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6014:Inpp5a
|
UTSW |
7 |
139,574,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6381:Inpp5a
|
UTSW |
7 |
139,400,673 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7255:Inpp5a
|
UTSW |
7 |
139,511,448 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7324:Inpp5a
|
UTSW |
7 |
139,525,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7362:Inpp5a
|
UTSW |
7 |
139,578,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7561:Inpp5a
|
UTSW |
7 |
139,567,422 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7748:Inpp5a
|
UTSW |
7 |
139,574,995 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8178:Inpp5a
|
UTSW |
7 |
139,538,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8253:Inpp5a
|
UTSW |
7 |
139,481,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8839:Inpp5a
|
UTSW |
7 |
139,389,433 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9242:Inpp5a
|
UTSW |
7 |
139,481,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9340:Inpp5a
|
UTSW |
7 |
139,389,464 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Inpp5a
|
UTSW |
7 |
139,525,775 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGATGCCTGCCCTAAGTCTC -3'
(R):5'- TCCAAACCTACATGGCCTCTGACTC -3'
Sequencing Primer
(F):5'- GTGAATGGTAATTCCACAGCC -3'
(R):5'- CACTCATTCTGACAATCAGTGCG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation