Incidental Mutation 'R6397:Pstpip2'
| ID |
516050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pstpip2
|
| Ensembl Gene |
ENSMUSG00000025429 |
| Gene Name |
proline-serine-threonine phosphatase-interacting protein 2 |
| Synonyms |
cmo |
| MMRRC Submission |
044545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77882250-77971462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 77961079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 221
(C221G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114741]
|
| AlphaFold |
Q99M15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114741
AA Change: C221G
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110389
Gene: ENSMUSG00000025429
AA Change: C221G
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
13 |
98 |
7.62e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.0853 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
94% (29/31) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant animals develop osteomyelitis (bone inflammation). Tail kinks are observed starting at 6-8 weeks of age and chronic inflammation of the extremities and ears is subsequently seen. Extramedullary hematopoiesis in the spleen is observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Cdh1 |
T |
C |
8: 107,330,922 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dipk1a |
T |
A |
5: 108,059,504 (GRCm39) |
K105* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,705,308 (GRCm39) |
V1137A |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
| Ifi203 |
C |
A |
1: 173,754,770 (GRCm39) |
V654L |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,813,355 (GRCm39) |
L787P |
probably damaging |
Het |
| Kazald1 |
A |
G |
19: 45,065,317 (GRCm39) |
E66G |
probably benign |
Het |
| Map4 |
T |
A |
9: 109,856,784 (GRCm39) |
D151E |
possibly damaging |
Het |
| Msrb3 |
G |
A |
10: 120,627,356 (GRCm39) |
T42I |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,679,156 (GRCm39) |
C744Y |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,487,827 (GRCm39) |
H836L |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,582,152 (GRCm39) |
N653D |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,971 (GRCm39) |
Y139C |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,338 (GRCm39) |
T39A |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,558 (GRCm39) |
S313T |
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,488,516 (GRCm39) |
R65* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,285,219 (GRCm39) |
N528D |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,610 (GRCm39) |
H195L |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,272 (GRCm39) |
I79T |
probably benign |
Het |
| Sptbn2 |
A |
T |
19: 4,792,446 (GRCm39) |
E1367V |
possibly damaging |
Het |
| Stau1 |
A |
G |
2: 166,792,927 (GRCm39) |
V346A |
possibly damaging |
Het |
| Tchh |
A |
G |
3: 93,353,173 (GRCm39) |
E871G |
unknown |
Het |
| Tlr9 |
A |
G |
9: 106,102,305 (GRCm39) |
N532S |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,738 (GRCm39) |
A400T |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,131 (GRCm39) |
Y828* |
probably null |
Het |
| Vps45 |
A |
G |
3: 95,950,164 (GRCm39) |
I255T |
probably benign |
Het |
| Yap1 |
T |
C |
9: 8,001,467 (GRCm39) |
Y173C |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,055 (GRCm39) |
I821F |
probably benign |
Het |
| Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
|
| Other mutations in Pstpip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Pstpip2
|
APN |
18 |
77,961,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00264:Pstpip2
|
APN |
18 |
77,959,259 (GRCm39) |
splice site |
probably benign |
|
|
IGL01373:Pstpip2
|
APN |
18 |
77,922,916 (GRCm39) |
nonsense |
probably null |
|
|
IGL01866:Pstpip2
|
APN |
18 |
77,965,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02948:Pstpip2
|
APN |
18 |
77,942,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1853:Pstpip2
|
UTSW |
18 |
77,959,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Pstpip2
|
UTSW |
18 |
77,959,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Pstpip2
|
UTSW |
18 |
77,922,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2402:Pstpip2
|
UTSW |
18 |
77,942,564 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2927:Pstpip2
|
UTSW |
18 |
77,949,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3103:Pstpip2
|
UTSW |
18 |
77,959,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4276:Pstpip2
|
UTSW |
18 |
77,949,556 (GRCm39) |
missense |
probably benign |
|
|
R4881:Pstpip2
|
UTSW |
18 |
77,962,032 (GRCm39) |
nonsense |
probably null |
|
|
R5222:Pstpip2
|
UTSW |
18 |
77,962,032 (GRCm39) |
nonsense |
probably null |
|
|
R5361:Pstpip2
|
UTSW |
18 |
77,958,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7538:Pstpip2
|
UTSW |
18 |
77,959,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Pstpip2
|
UTSW |
18 |
77,962,004 (GRCm39) |
missense |
probably benign |
|
|
R7885:Pstpip2
|
UTSW |
18 |
77,882,422 (GRCm39) |
missense |
probably benign |
|
|
R7982:Pstpip2
|
UTSW |
18 |
77,967,073 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8755:Pstpip2
|
UTSW |
18 |
77,961,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Pstpip2
|
UTSW |
18 |
77,934,108 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9179:Pstpip2
|
UTSW |
18 |
77,961,155 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
X0065:Pstpip2
|
UTSW |
18 |
77,967,061 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCACAGTTAGCTATTATGGGAC -3'
(R):5'- ATTGTCACACAGGCGGTAGC -3'
Sequencing Primer
(F):5'- TTATGGGACTATTATGTCAAACACTC -3'
(R):5'- TCTCTGTACCTCAAATGGAAGCAGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation