Incidental Mutation 'IGL02115:Ppfibp2'
| ID |
280362 |
| 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 # |
IGL02115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
107194414-107347790 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 107338525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040056]
[ENSMUST00000098134]
[ENSMUST00000208159]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040056
|
| SMART Domains |
Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
| 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
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
A |
T |
7: 124,930,781 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
A |
T |
10: 79,833,913 (GRCm39) |
N76Y |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,042,923 (GRCm39) |
K755R |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,108,397 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,680,635 (GRCm39) |
T632A |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,014,462 (GRCm39) |
C104F |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,722,623 (GRCm39) |
V153I |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,497,220 (GRCm39) |
|
probably null |
Het |
| Ckb |
A |
G |
12: 111,636,415 (GRCm39) |
F271L |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,735,373 (GRCm39) |
I759L |
probably damaging |
Het |
| Ddr2 |
A |
T |
1: 169,822,278 (GRCm39) |
M390K |
probably benign |
Het |
| Dhx8 |
C |
T |
11: 101,643,214 (GRCm39) |
P762L |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,628,277 (GRCm39) |
V1449E |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,768,848 (GRCm39) |
I629M |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,019 (GRCm39) |
I1692T |
unknown |
Het |
| Ercc6 |
T |
A |
14: 32,298,950 (GRCm39) |
L1446Q |
probably damaging |
Het |
| Gm10092 |
T |
C |
16: 35,957,993 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6900 |
A |
T |
7: 10,390,503 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
T |
C |
3: 62,502,336 (GRCm39) |
T507A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,506,479 (GRCm39) |
D3776V |
probably damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,948 (GRCm39) |
E225G |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,424,305 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,594,459 (GRCm39) |
V196A |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,023,247 (GRCm39) |
S178G |
possibly damaging |
Het |
| Lzts2 |
A |
G |
19: 45,014,809 (GRCm39) |
|
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 145,843,056 (GRCm39) |
S380L |
probably damaging |
Het |
| Med12l |
A |
T |
3: 58,975,740 (GRCm39) |
T223S |
probably benign |
Het |
| Mrpl54 |
A |
G |
10: 81,101,483 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
T |
11: 75,552,417 (GRCm39) |
I397F |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,367,693 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,223,041 (GRCm39) |
H1195Y |
probably damaging |
Het |
| Nol3 |
A |
G |
8: 106,006,263 (GRCm39) |
M171V |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,333,853 (GRCm39) |
C178S |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,681 (GRCm39) |
T194A |
probably damaging |
Het |
| Pdpr |
C |
T |
8: 111,830,630 (GRCm39) |
L107F |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,426,136 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,639 (GRCm39) |
|
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,868,183 (GRCm39) |
C539R |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,029,208 (GRCm39) |
C524R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc15a1 |
A |
T |
14: 121,718,073 (GRCm39) |
Y269N |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,067,865 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tm6sf1 |
A |
T |
7: 81,525,551 (GRCm39) |
Y172F |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,763,090 (GRCm39) |
D773G |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,491 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,942,676 (GRCm39) |
R588W |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 102,964,933 (GRCm39) |
Y74F |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,741,039 (GRCm39) |
I737K |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,800,787 (GRCm39) |
M383K |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,159,708 (GRCm39) |
D426G |
unknown |
Het |
| Zfp622 |
A |
G |
15: 25,987,286 (GRCm39) |
N308S |
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 |
|
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 |
|
|
IGL01361:Ppfibp2
|
APN |
7 |
107,343,508 (GRCm39) |
splice site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation