Incidental Mutation 'IGL00429:Ppfibp2'
| ID |
5154 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppfibp2
|
| Ensembl Gene |
ENSMUSG00000036528 |
| Gene Name |
PTPRF interacting protein, binding protein 2 (liprin beta 2) |
| Synonyms |
liprin beta 2, Cclp1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00429
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
107194414-107347790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107296801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 172
(T172A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040056]
[ENSMUST00000098134]
[ENSMUST00000208956]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040056
AA Change: T172A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: T172A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Integrase_DNA
|
192 |
256 |
3.4e-24 |
PFAM |
|
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
|
SAM
|
561 |
628 |
1.86e-12 |
SMART |
|
SAM
|
633 |
699 |
4.07e-9 |
SMART |
|
SAM
|
721 |
793 |
9.22e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098134
AA Change: T172A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: T172A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QH9|A
|
185 |
265 |
2e-26 |
PDB |
|
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
|
SAM
|
550 |
617 |
1.86e-12 |
SMART |
|
SAM
|
622 |
688 |
4.07e-9 |
SMART |
|
SAM
|
710 |
782 |
9.22e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208956
AA Change: T172A
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| 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 LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009J07Rik |
G |
A |
10: 77,729,673 (GRCm39) |
|
probably benign |
Het |
| 4933411K16Rik |
T |
C |
19: 42,040,983 (GRCm39) |
L38P |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,059,255 (GRCm39) |
|
probably null |
Het |
| Abca15 |
T |
A |
7: 119,996,277 (GRCm39) |
I1401N |
probably damaging |
Het |
| Adam3 |
A |
C |
8: 25,184,294 (GRCm39) |
Y569D |
probably damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,555,192 (GRCm39) |
S458G |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,658,280 (GRCm39) |
P2097S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,504,145 (GRCm39) |
D607G |
probably benign |
Het |
| Ccdc158 |
C |
A |
5: 92,805,740 (GRCm39) |
M338I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,256,920 (GRCm39) |
S735P |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,828,448 (GRCm39) |
V180A |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,432,171 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,691,668 (GRCm39) |
V180A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,166,826 (GRCm39) |
T1672S |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,340 (GRCm39) |
L141Q |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,127,597 (GRCm39) |
E313G |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,809 (GRCm39) |
T593A |
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,310 (GRCm39) |
S15P |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,537,812 (GRCm39) |
E526K |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,887,022 (GRCm39) |
H109L |
possibly damaging |
Het |
| Mab21l1 |
A |
C |
3: 55,690,557 (GRCm39) |
Q48P |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,294 (GRCm39) |
K1474N |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,714,109 (GRCm39) |
F237L |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,790,449 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
A |
C |
2: 156,872,784 (GRCm39) |
F909C |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,071,616 (GRCm39) |
Q478* |
probably null |
Het |
| Mylip |
C |
A |
13: 45,562,043 (GRCm39) |
P282T |
probably benign |
Het |
| Mymk |
T |
C |
2: 26,952,799 (GRCm39) |
Y103C |
probably damaging |
Het |
| Necab1 |
A |
T |
4: 15,052,656 (GRCm39) |
N107K |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,753 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
T |
C |
3: 98,235,631 (GRCm39) |
K129E |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,139,026 (GRCm39) |
Y1714C |
probably damaging |
Het |
| Pm20d2 |
A |
G |
4: 33,187,205 (GRCm39) |
|
probably benign |
Het |
| Prkca |
T |
C |
11: 108,234,334 (GRCm39) |
T54A |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,410 (GRCm39) |
D295G |
probably benign |
Het |
| Rdh12 |
A |
G |
12: 79,258,176 (GRCm39) |
I68V |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,193,653 (GRCm39) |
F850L |
possibly damaging |
Het |
| Smad2 |
A |
T |
18: 76,431,566 (GRCm39) |
S185C |
possibly damaging |
Het |
| Trav13n-4 |
T |
A |
14: 53,601,288 (GRCm39) |
L19Q |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,132,311 (GRCm39) |
C844* |
probably null |
Het |
| Vwce |
T |
A |
19: 10,641,875 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,518,709 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,690,979 (GRCm39) |
I510T |
probably damaging |
Het |
| Zfp930 |
G |
T |
8: 69,680,634 (GRCm39) |
K90N |
probably damaging |
Het |
|
| Other mutations in Ppfibp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Ppfibp2
|
APN |
7 |
107,308,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00785:Ppfibp2
|
APN |
7 |
107,337,094 (GRCm39) |
missense |
probably benign |
|
|
IGL00821:Ppfibp2
|
APN |
7 |
107,329,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01295:Ppfibp2
|
APN |
7 |
107,346,746 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01361:Ppfibp2
|
APN |
7 |
107,343,508 (GRCm39) |
splice site |
probably null |
|
|
IGL02115:Ppfibp2
|
APN |
7 |
107,338,525 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02323:Ppfibp2
|
APN |
7 |
107,337,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Ppfibp2
|
APN |
7 |
107,342,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02731:Ppfibp2
|
APN |
7 |
107,345,629 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03343:Ppfibp2
|
APN |
7 |
107,337,126 (GRCm39) |
nonsense |
probably null |
|
|
R0142:Ppfibp2
|
UTSW |
7 |
107,343,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Ppfibp2
|
UTSW |
7 |
107,328,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Ppfibp2
|
UTSW |
7 |
107,337,806 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1374:Ppfibp2
|
UTSW |
7 |
107,285,195 (GRCm39) |
splice site |
probably benign |
|
|
R1668:Ppfibp2
|
UTSW |
7 |
107,329,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Ppfibp2
|
UTSW |
7 |
107,339,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Ppfibp2
|
UTSW |
7 |
107,236,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Ppfibp2
|
UTSW |
7 |
107,345,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Ppfibp2
|
UTSW |
7 |
107,338,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2929:Ppfibp2
|
UTSW |
7 |
107,296,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3777:Ppfibp2
|
UTSW |
7 |
107,328,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3778:Ppfibp2
|
UTSW |
7 |
107,328,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4839:Ppfibp2
|
UTSW |
7 |
107,342,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Ppfibp2
|
UTSW |
7 |
107,328,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5643:Ppfibp2
|
UTSW |
7 |
107,337,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Ppfibp2
|
UTSW |
7 |
107,285,079 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6255:Ppfibp2
|
UTSW |
7 |
107,280,969 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6356:Ppfibp2
|
UTSW |
7 |
107,280,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6843:Ppfibp2
|
UTSW |
7 |
107,326,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6889:Ppfibp2
|
UTSW |
7 |
107,337,188 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7051:Ppfibp2
|
UTSW |
7 |
107,316,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Ppfibp2
|
UTSW |
7 |
107,322,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7654:Ppfibp2
|
UTSW |
7 |
107,337,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7678:Ppfibp2
|
UTSW |
7 |
107,315,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7895:Ppfibp2
|
UTSW |
7 |
107,320,524 (GRCm39) |
splice site |
probably null |
|
|
R8385:Ppfibp2
|
UTSW |
7 |
107,296,894 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8434:Ppfibp2
|
UTSW |
7 |
107,327,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8691:Ppfibp2
|
UTSW |
7 |
107,346,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8695:Ppfibp2
|
UTSW |
7 |
107,285,063 (GRCm39) |
splice site |
probably benign |
|
|
R8700:Ppfibp2
|
UTSW |
7 |
107,345,602 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8755:Ppfibp2
|
UTSW |
7 |
107,343,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Ppfibp2
|
UTSW |
7 |
107,337,525 (GRCm39) |
nonsense |
probably null |
|
|
R9182:Ppfibp2
|
UTSW |
7 |
107,308,053 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9355:Ppfibp2
|
UTSW |
7 |
107,322,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9545:Ppfibp2
|
UTSW |
7 |
107,337,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Ppfibp2
|
UTSW |
7 |
107,318,448 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF022:Ppfibp2
|
UTSW |
7 |
107,296,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ppfibp2
|
UTSW |
7 |
107,342,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2012-04-20 |
Incidental Mutation