Incidental Mutation 'IGL01361:Ppfibp2'
ID |
75755 |
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 # |
IGL01361
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
107194414-107347790 bp(+) (GRCm39) |
Type of Mutation |
splice site (4154 bp from exon) |
DNA Base Change (assembly) |
T to C
at 107343508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040056]
[ENSMUST00000052438]
[ENSMUST00000098134]
[ENSMUST00000208159]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040056
AA Change: V860A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042574 Gene: ENSMUSG00000036528 AA Change: V860A
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 null
Transcript: ENSMUST00000052438
|
SMART Domains |
Protein: ENSMUSP00000050061 Gene: ENSMUSG00000048065
Domain | Start | End | E-Value | Type |
Pfam:FAD_binding_6
|
19 |
126 |
5e-37 |
PFAM |
Pfam:NAD_binding_6
|
163 |
242 |
9.7e-8 |
PFAM |
Pfam:NAD_binding_1
|
168 |
276 |
6.8e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098134
AA Change: V849A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000095738 Gene: ENSMUSG00000036528 AA Change: V849A
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: ENSMUST00000208159
AA Change: V105A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
T |
A |
11: 5,546,706 (GRCm39) |
|
probably benign |
Het |
C1qtnf3 |
G |
A |
15: 10,960,768 (GRCm39) |
G157D |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,569,107 (GRCm39) |
E940G |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,229,149 (GRCm39) |
L561P |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,655,718 (GRCm39) |
Y27C |
probably damaging |
Het |
Catsper1 |
G |
T |
19: 5,389,507 (GRCm39) |
S474I |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,234,304 (GRCm39) |
D897G |
probably benign |
Het |
Crtc1 |
A |
G |
8: 70,840,253 (GRCm39) |
L540P |
probably damaging |
Het |
Fdps |
A |
G |
3: 89,001,749 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
A |
G |
10: 51,491,526 (GRCm39) |
I741T |
probably damaging |
Het |
Hdac7 |
A |
C |
15: 97,709,323 (GRCm39) |
M47R |
possibly damaging |
Het |
Kalrn |
T |
C |
16: 33,996,092 (GRCm39) |
|
probably benign |
Het |
Kat14 |
C |
A |
2: 144,248,540 (GRCm39) |
|
probably null |
Het |
Kcnu1 |
T |
C |
8: 26,376,796 (GRCm39) |
V390A |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,375,977 (GRCm39) |
Y578N |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,000,763 (GRCm39) |
|
probably benign |
Het |
Mpc2 |
G |
T |
1: 165,307,092 (GRCm39) |
A98S |
probably benign |
Het |
Nek10 |
T |
C |
14: 14,850,957 (GRCm38) |
I334T |
probably damaging |
Het |
Nufip2 |
T |
A |
11: 77,583,196 (GRCm39) |
V370E |
possibly damaging |
Het |
Nup160 |
C |
A |
2: 90,514,356 (GRCm39) |
Y101* |
probably null |
Het |
Obscn |
T |
A |
11: 58,919,715 (GRCm39) |
Y6174F |
probably damaging |
Het |
Omp |
A |
T |
7: 97,794,489 (GRCm39) |
I46N |
probably benign |
Het |
Pcbp4 |
A |
T |
9: 106,340,448 (GRCm39) |
|
probably null |
Het |
Pctp |
A |
G |
11: 89,879,552 (GRCm39) |
V103A |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,309,814 (GRCm39) |
Y590H |
probably damaging |
Het |
Reln |
G |
A |
5: 22,124,019 (GRCm39) |
T2829M |
probably benign |
Het |
Sh3yl1 |
T |
A |
12: 30,989,563 (GRCm39) |
|
probably benign |
Het |
Sipa1l3 |
A |
T |
7: 29,048,112 (GRCm39) |
Y210N |
probably damaging |
Het |
Slc33a1 |
C |
A |
3: 63,850,833 (GRCm39) |
C497F |
probably damaging |
Het |
Srp9 |
G |
A |
1: 181,958,902 (GRCm39) |
C25Y |
probably damaging |
Het |
Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
Tut7 |
A |
T |
13: 59,933,614 (GRCm39) |
I894K |
probably damaging |
Het |
Usf3 |
C |
A |
16: 44,033,000 (GRCm39) |
|
probably null |
Het |
Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
Vps13a |
C |
T |
19: 16,720,371 (GRCm39) |
A405T |
probably damaging |
Het |
Zan |
A |
T |
5: 137,412,604 (GRCm39) |
|
probably benign |
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 |
IGL00429:Ppfibp2
|
APN |
7 |
107,296,801 (GRCm39) |
missense |
probably benign |
0.18 |
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 |
|
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 |
2013-10-07 |