Incidental Mutation 'R5350:Ppip5k2'
| ID |
423731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k2
|
| Ensembl Gene |
ENSMUSG00000040648 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 2 |
| Synonyms |
Hisppd1, Cfap160, Vip2 |
| MMRRC Submission |
042929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R5350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
97633773-97698136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97648853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 1024
(S1024N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042509]
[ENSMUST00000112845]
[ENSMUST00000171129]
|
| AlphaFold |
Q6ZQB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042509
|
| SMART Domains |
Protein: ENSMUSP00000043401
Gene: ENSMUSG00000040648
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
PDB:4NZO|A
|
42 |
366 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
379 |
894 |
2.9e-112 |
PFAM |
|
low complexity region
|
1073 |
1092 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112845
AA Change: S1024N
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108466
Gene: ENSMUSG00000040648
AA Change: S1024N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
PDB:4NZO|A
|
42 |
366 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
379 |
894 |
6.9e-141 |
PFAM |
|
low complexity region
|
993 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1192 |
1211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171129
|
| SMART Domains |
Protein: ENSMUSP00000132889
Gene: ENSMUSG00000040648
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
PDB:4NZO|A
|
42 |
366 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
379 |
894 |
2.9e-112 |
PFAM |
|
low complexity region
|
1073 |
1092 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189992
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191556
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,006,364 (GRCm39) |
V1247A |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,106,699 (GRCm39) |
M133L |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,382,612 (GRCm39) |
A2100V |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,901,315 (GRCm39) |
K921* |
probably null |
Het |
| Ankrd55 |
T |
G |
13: 112,472,760 (GRCm39) |
V144G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,115,088 (GRCm39) |
L976P |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,301,368 (GRCm39) |
V814E |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,736,199 (GRCm39) |
M960K |
probably damaging |
Het |
| Bag1 |
C |
T |
4: 40,948,007 (GRCm39) |
G66S |
possibly damaging |
Het |
| Bmp8a |
A |
T |
4: 123,207,088 (GRCm39) |
M391K |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,889,551 (GRCm39) |
R216L |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,978,515 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,070,465 (GRCm39) |
F75L |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,666,405 (GRCm39) |
D21E |
possibly damaging |
Het |
| Dach1 |
G |
T |
14: 98,207,395 (GRCm39) |
A318E |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,780 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,618,056 (GRCm39) |
T201A |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,406,862 (GRCm39) |
D214E |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,272,849 (GRCm39) |
G2326C |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,665 (GRCm39) |
F356S |
probably damaging |
Het |
| Duxf3 |
C |
A |
10: 58,066,915 (GRCm39) |
S528I |
probably damaging |
Het |
| Ell |
T |
A |
8: 70,992,439 (GRCm39) |
V28E |
probably damaging |
Het |
| Evi5 |
C |
T |
5: 107,963,544 (GRCm39) |
D344N |
probably benign |
Het |
| Fv1 |
G |
T |
4: 147,954,546 (GRCm39) |
V371L |
possibly damaging |
Het |
| Gemin5 |
A |
G |
11: 58,032,412 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
T |
9: 61,967,587 (GRCm39) |
Y521* |
probably null |
Het |
| Grn |
T |
A |
11: 102,327,070 (GRCm39) |
L556Q |
possibly damaging |
Het |
| Icam1 |
C |
A |
9: 20,939,182 (GRCm39) |
Y518* |
probably null |
Het |
| Jag2 |
A |
T |
12: 112,872,542 (GRCm39) |
S1237R |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,251 (GRCm39) |
M1K |
probably null |
Het |
| Nbea |
T |
C |
3: 55,926,845 (GRCm39) |
E786G |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,001,877 (GRCm39) |
M192T |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,003,879 (GRCm39) |
T225A |
probably benign |
Het |
| Or4a73 |
T |
A |
2: 89,421,432 (GRCm39) |
E9V |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,766 (GRCm39) |
H26L |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,912 (GRCm39) |
M1K |
probably null |
Het |
| Pcnx4 |
A |
C |
12: 72,626,138 (GRCm39) |
N1115H |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,442,134 (GRCm39) |
S585P |
possibly damaging |
Het |
| Prkar1b |
C |
T |
5: 139,092,383 (GRCm39) |
E145K |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,361,513 (GRCm39) |
T539S |
probably benign |
Het |
| Rit2 |
A |
G |
18: 31,449,905 (GRCm39) |
V31A |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,531,663 (GRCm39) |
P780S |
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,614,838 (GRCm39) |
T336K |
possibly damaging |
Het |
| Smo |
A |
T |
6: 29,754,466 (GRCm39) |
Q232L |
probably benign |
Het |
| Stx2 |
T |
C |
5: 129,068,155 (GRCm39) |
D184G |
probably damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,746 (GRCm39) |
Y48C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
|
| Other mutations in Ppip5k2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01927:Ppip5k2
|
APN |
1 |
97,640,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02266:Ppip5k2
|
APN |
1 |
97,661,697 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02705:Ppip5k2
|
APN |
1 |
97,686,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03229:Ppip5k2
|
APN |
1 |
97,656,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Ppip5k2
|
UTSW |
1 |
97,645,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0082:Ppip5k2
|
UTSW |
1 |
97,687,057 (GRCm39) |
nonsense |
probably null |
|
|
R0242:Ppip5k2
|
UTSW |
1 |
97,668,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Ppip5k2
|
UTSW |
1 |
97,668,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0267:Ppip5k2
|
UTSW |
1 |
97,656,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Ppip5k2
|
UTSW |
1 |
97,644,278 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0373:Ppip5k2
|
UTSW |
1 |
97,668,262 (GRCm39) |
nonsense |
probably null |
|
|
R0402:Ppip5k2
|
UTSW |
1 |
97,647,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0423:Ppip5k2
|
UTSW |
1 |
97,689,152 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0613:Ppip5k2
|
UTSW |
1 |
97,680,465 (GRCm39) |
nonsense |
probably null |
|
|
R0751:Ppip5k2
|
UTSW |
1 |
97,677,377 (GRCm39) |
nonsense |
probably null |
|
|
R1121:Ppip5k2
|
UTSW |
1 |
97,684,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1265:Ppip5k2
|
UTSW |
1 |
97,647,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1436:Ppip5k2
|
UTSW |
1 |
97,639,507 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1543:Ppip5k2
|
UTSW |
1 |
97,668,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Ppip5k2
|
UTSW |
1 |
97,656,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Ppip5k2
|
UTSW |
1 |
97,651,531 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2191:Ppip5k2
|
UTSW |
1 |
97,671,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2430:Ppip5k2
|
UTSW |
1 |
97,662,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2762:Ppip5k2
|
UTSW |
1 |
97,645,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3014:Ppip5k2
|
UTSW |
1 |
97,671,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3759:Ppip5k2
|
UTSW |
1 |
97,683,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4603:Ppip5k2
|
UTSW |
1 |
97,682,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Ppip5k2
|
UTSW |
1 |
97,648,792 (GRCm39) |
unclassified |
probably benign |
|
|
R4951:Ppip5k2
|
UTSW |
1 |
97,639,474 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5348:Ppip5k2
|
UTSW |
1 |
97,675,317 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5584:Ppip5k2
|
UTSW |
1 |
97,678,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5599:Ppip5k2
|
UTSW |
1 |
97,668,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Ppip5k2
|
UTSW |
1 |
97,635,535 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5898:Ppip5k2
|
UTSW |
1 |
97,671,887 (GRCm39) |
intron |
probably benign |
|
|
R6184:Ppip5k2
|
UTSW |
1 |
97,661,730 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6221:Ppip5k2
|
UTSW |
1 |
97,657,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Ppip5k2
|
UTSW |
1 |
97,647,585 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7250:Ppip5k2
|
UTSW |
1 |
97,673,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7329:Ppip5k2
|
UTSW |
1 |
97,678,478 (GRCm39) |
splice site |
probably null |
|
|
R7357:Ppip5k2
|
UTSW |
1 |
97,686,941 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7852:Ppip5k2
|
UTSW |
1 |
97,668,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7884:Ppip5k2
|
UTSW |
1 |
97,668,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8006:Ppip5k2
|
UTSW |
1 |
97,661,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8134:Ppip5k2
|
UTSW |
1 |
97,672,888 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8274:Ppip5k2
|
UTSW |
1 |
97,686,941 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8436:Ppip5k2
|
UTSW |
1 |
97,683,613 (GRCm39) |
missense |
probably benign |
|
|
R8440:Ppip5k2
|
UTSW |
1 |
97,675,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8895:Ppip5k2
|
UTSW |
1 |
97,639,544 (GRCm39) |
missense |
probably benign |
|
|
R9017:Ppip5k2
|
UTSW |
1 |
97,655,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Ppip5k2
|
UTSW |
1 |
97,645,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9441:Ppip5k2
|
UTSW |
1 |
97,672,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9533:Ppip5k2
|
UTSW |
1 |
97,661,792 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9715:Ppip5k2
|
UTSW |
1 |
97,677,312 (GRCm39) |
missense |
|
|
|
R9792:Ppip5k2
|
UTSW |
1 |
97,671,822 (GRCm39) |
nonsense |
probably null |
|
|
R9793:Ppip5k2
|
UTSW |
1 |
97,671,822 (GRCm39) |
nonsense |
probably null |
|
|
R9795:Ppip5k2
|
UTSW |
1 |
97,671,822 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ppip5k2
|
UTSW |
1 |
97,644,330 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAATGCATGCCACATAGATG -3'
(R):5'- GGCTCTAATGTATCTAACTTTGCATGC -3'
Sequencing Primer
(F):5'- GCATGCCACATAGATGGTTTC -3'
(R):5'- GCTGCATTATACCAGTGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation