Incidental Mutation 'IGL03343:Ppfibp2'
| ID |
417316 |
| 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 # |
IGL03343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
107194414-107347790 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 107337126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 570
(Y570*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040056]
[ENSMUST00000098134]
[ENSMUST00000208159]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040056
AA Change: Y581*
|
| SMART Domains |
Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: Y581*
| 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: ENSMUST00000098134
AA Change: Y570*
|
| SMART Domains |
Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: Y570*
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
A |
G |
7: 66,725,064 (GRCm39) |
H795R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,565,016 (GRCm39) |
I188K |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,431,507 (GRCm39) |
Y5974H |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,778,623 (GRCm39) |
T336A |
probably damaging |
Het |
| Arhgap30 |
C |
A |
1: 171,236,662 (GRCm39) |
T1012N |
probably damaging |
Het |
| Asl |
A |
T |
5: 130,040,908 (GRCm39) |
Y178N |
probably damaging |
Het |
| Brd1 |
C |
A |
15: 88,591,454 (GRCm39) |
L714F |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,788 (GRCm39) |
S303P |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,848,420 (GRCm39) |
I858N |
probably damaging |
Het |
| Cdk16 |
A |
G |
X: 20,561,998 (GRCm39) |
K264E |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,164,181 (GRCm39) |
F813L |
probably damaging |
Het |
| Cfp |
A |
C |
X: 20,794,248 (GRCm39) |
F291C |
possibly damaging |
Het |
| Chordc1 |
T |
G |
9: 18,223,762 (GRCm39) |
F276V |
probably damaging |
Het |
| Clic4 |
C |
T |
4: 134,945,889 (GRCm39) |
R176H |
possibly damaging |
Het |
| Fcer1a |
T |
G |
1: 173,053,040 (GRCm39) |
N52T |
possibly damaging |
Het |
| Fndc7 |
A |
T |
3: 108,774,624 (GRCm39) |
C545S |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,559,674 (GRCm39) |
D1611G |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Gga3 |
A |
T |
11: 115,483,312 (GRCm39) |
N82K |
probably damaging |
Het |
| Gm43638 |
G |
A |
5: 87,608,484 (GRCm39) |
P452S |
possibly damaging |
Het |
| Gpn1 |
T |
C |
5: 31,662,309 (GRCm39) |
S244P |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,828 (GRCm39) |
S665G |
probably benign |
Het |
| Htt |
A |
G |
5: 34,983,385 (GRCm39) |
I995V |
probably benign |
Het |
| Iars1 |
A |
T |
13: 49,878,223 (GRCm39) |
I916L |
probably benign |
Het |
| Ice1 |
C |
A |
13: 70,751,048 (GRCm39) |
L1679F |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,486 (GRCm39) |
D54E |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,929,713 (GRCm39) |
E320G |
possibly damaging |
Het |
| Itprid1 |
T |
G |
6: 55,945,569 (GRCm39) |
D763E |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,810,026 (GRCm39) |
V421A |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,154,768 (GRCm39) |
V419A |
probably benign |
Het |
| Nek9 |
C |
T |
12: 85,350,383 (GRCm39) |
C897Y |
probably damaging |
Het |
| Ofcc1 |
A |
C |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,300 (GRCm39) |
D68N |
probably damaging |
Het |
| Or2y16 |
C |
A |
11: 49,335,070 (GRCm39) |
H131N |
probably damaging |
Het |
| Or5m12 |
T |
C |
2: 85,735,285 (GRCm39) |
T38A |
probably benign |
Het |
| Or6c69c |
T |
G |
10: 129,911,125 (GRCm39) |
L282R |
probably damaging |
Het |
| Pakap |
C |
T |
4: 57,688,502 (GRCm39) |
T115M |
probably damaging |
Het |
| Papss1 |
G |
A |
3: 131,288,950 (GRCm39) |
G151S |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,943,780 (GRCm39) |
T1956A |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,143,724 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,046,015 (GRCm39) |
E493G |
probably damaging |
Het |
| Ptk2b |
A |
G |
14: 66,406,870 (GRCm39) |
F621L |
probably benign |
Het |
| Ptpn13 |
G |
T |
5: 103,702,816 (GRCm39) |
D1261Y |
possibly damaging |
Het |
| Ptprd |
C |
T |
4: 75,977,966 (GRCm39) |
G181D |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,270,853 (GRCm39) |
T645A |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,602,273 (GRCm39) |
N40S |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,587 (GRCm39) |
D83V |
probably benign |
Het |
| Sptb |
C |
T |
12: 76,630,330 (GRCm39) |
|
probably benign |
Het |
| Ssc4d |
A |
T |
5: 135,990,028 (GRCm39) |
C493* |
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,017 (GRCm39) |
D865G |
probably benign |
Het |
| Ubr2 |
C |
A |
17: 47,262,844 (GRCm39) |
V1256L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,803,490 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,446,631 (GRCm39) |
W456* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,070 (GRCm39) |
I799N |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,917,316 (GRCm39) |
G3720D |
possibly 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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation