Incidental Mutation 'R6889:Ppfibp2'
| ID |
537110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppfibp2
|
| Ensembl Gene |
ENSMUSG00000036528 |
| Gene Name |
PTPRF interacting protein, binding protein 2 (liprin beta 2) |
| Synonyms |
Cclp1, liprin beta 2 |
| MMRRC Submission |
044983-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
107595207-107748583 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 107737981 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 591
(D591A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040056]
[ENSMUST00000098134]
[ENSMUST00000208159]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040056
AA Change: D602A
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: D602A
| 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 |
possibly damaging
Transcript: ENSMUST00000098134
AA Change: D591A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: D591A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,943,053 (GRCm38) |
D103E |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,375,555 (GRCm38) |
S70T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 101,029,183 (GRCm38) |
Y214C |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 118,049,895 (GRCm38) |
|
probably null |
Het |
| BC067074 |
C |
A |
13: 113,318,378 (GRCm38) |
S319R |
probably damaging |
Het |
| Cacnb2 |
T |
A |
2: 14,986,015 (GRCm38) |
V636E |
possibly damaging |
Het |
| Cd8a |
A |
C |
6: 71,374,562 (GRCm38) |
T169P |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,404,132 (GRCm38) |
V68I |
probably benign |
Het |
| Eea1 |
G |
T |
10: 96,037,478 (GRCm38) |
C1134F |
probably benign |
Het |
| Ehmt2 |
T |
G |
17: 34,912,772 (GRCm38) |
F1192V |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,365,350 (GRCm38) |
F531L |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,650,477 (GRCm38) |
T173I |
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,844,416 (GRCm38) |
C520S |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,280,138 (GRCm38) |
K186E |
probably benign |
Het |
| Gpr108 |
A |
T |
17: 57,236,990 (GRCm38) |
N405K |
probably damaging |
Het |
| Hmgcl |
C |
A |
4: 135,955,642 (GRCm38) |
T135N |
probably benign |
Het |
| Hydin |
G |
A |
8: 110,532,856 (GRCm38) |
D2487N |
possibly damaging |
Het |
| Igfl3 |
G |
T |
7: 18,179,800 (GRCm38) |
R25L |
probably benign |
Het |
| Igsf10 |
A |
C |
3: 59,331,933 (GRCm38) |
S276A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 14,973,988 (GRCm38) |
S211P |
probably damaging |
Het |
| Kctd7 |
A |
T |
5: 130,152,501 (GRCm38) |
Q255L |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,625,063 (GRCm38) |
Y270H |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,809,744 (GRCm38) |
|
probably benign |
Het |
| Myh15 |
A |
G |
16: 49,153,111 (GRCm38) |
N1248S |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,944,109 (GRCm38) |
F408S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 128,493,057 (GRCm38) |
F652S |
probably damaging |
Het |
| Olfr1338 |
G |
A |
4: 118,754,307 (GRCm38) |
T79I |
probably damaging |
Het |
| Olfr487 |
A |
T |
7: 108,211,918 (GRCm38) |
F204I |
probably benign |
Het |
| Olfr574 |
A |
T |
7: 102,948,768 (GRCm38) |
H91L |
possibly damaging |
Het |
| Olfr821 |
T |
C |
10: 130,034,532 (GRCm38) |
M302T |
probably benign |
Het |
| Opa1 |
G |
T |
16: 29,620,868 (GRCm38) |
R792L |
probably benign |
Het |
| Pcdha6 |
G |
T |
18: 36,968,343 (GRCm38) |
L196F |
probably damaging |
Het |
| Pdia2 |
A |
T |
17: 26,196,970 (GRCm38) |
Y347* |
probably null |
Het |
| Pdpr |
G |
T |
8: 111,124,613 (GRCm38) |
|
probably null |
Het |
| Pigt |
T |
A |
2: 164,507,331 (GRCm38) |
L518Q |
probably damaging |
Het |
| Prrg2 |
G |
A |
7: 45,059,989 (GRCm38) |
T97M |
possibly damaging |
Het |
| Qars |
A |
G |
9: 108,513,183 (GRCm38) |
T428A |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,185,715 (GRCm38) |
F202L |
probably damaging |
Het |
| Rars |
A |
T |
11: 35,808,486 (GRCm38) |
M660K |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,579,925 (GRCm38) |
|
probably benign |
Het |
| Slc16a6 |
A |
C |
11: 109,455,040 (GRCm38) |
F382V |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,954,153 (GRCm38) |
T330A |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,067,759 (GRCm38) |
L1157Q |
probably damaging |
Het |
| Snx4 |
G |
T |
16: 33,251,470 (GRCm38) |
A4S |
possibly damaging |
Het |
| Sv2b |
A |
C |
7: 75,125,767 (GRCm38) |
|
probably null |
Het |
| Syt9 |
A |
T |
7: 107,425,286 (GRCm38) |
I129L |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,773,353 (GRCm38) |
E198G |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,944,300 (GRCm38) |
D488V |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,797,871 (GRCm38) |
C3286S |
probably damaging |
Het |
| Vill |
A |
G |
9: 119,065,882 (GRCm38) |
D56G |
possibly damaging |
Het |
| Vmn1r41 |
A |
T |
6: 89,747,370 (GRCm38) |
I298F |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,117,267 (GRCm38) |
V631D |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,472,574 (GRCm38) |
S437P |
possibly damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,601,142 (GRCm38) |
V197A |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,920,369 (GRCm38) |
I32F |
probably damaging |
Het |
| Wasf2 |
G |
T |
4: 133,194,730 (GRCm38) |
A387S |
unknown |
Het |
| Wdr92 |
G |
A |
11: 17,222,309 (GRCm38) |
V133M |
probably damaging |
Het |
| Zbtb14 |
G |
A |
17: 69,387,679 (GRCm38) |
C124Y |
probably damaging |
Het |
| Zfp462 |
G |
T |
4: 55,007,671 (GRCm38) |
A37S |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,686,990 (GRCm38) |
E882G |
possibly damaging |
Het |
|
| Other mutations in Ppfibp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Ppfibp2
|
APN |
7 |
107,708,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00429:Ppfibp2
|
APN |
7 |
107,697,594 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL00785:Ppfibp2
|
APN |
7 |
107,737,887 (GRCm38) |
missense |
probably benign |
|
|
IGL00821:Ppfibp2
|
APN |
7 |
107,729,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01295:Ppfibp2
|
APN |
7 |
107,747,539 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01361:Ppfibp2
|
APN |
7 |
107,744,301 (GRCm38) |
splice site |
probably null |
|
|
IGL02115:Ppfibp2
|
APN |
7 |
107,739,318 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02323:Ppfibp2
|
APN |
7 |
107,738,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02458:Ppfibp2
|
APN |
7 |
107,742,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02731:Ppfibp2
|
APN |
7 |
107,746,422 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03343:Ppfibp2
|
APN |
7 |
107,737,919 (GRCm38) |
nonsense |
probably null |
|
|
R0142:Ppfibp2
|
UTSW |
7 |
107,744,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0555:Ppfibp2
|
UTSW |
7 |
107,729,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0630:Ppfibp2
|
UTSW |
7 |
107,738,599 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1374:Ppfibp2
|
UTSW |
7 |
107,685,988 (GRCm38) |
splice site |
probably benign |
|
|
R1668:Ppfibp2
|
UTSW |
7 |
107,729,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1731:Ppfibp2
|
UTSW |
7 |
107,740,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1830:Ppfibp2
|
UTSW |
7 |
107,637,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1902:Ppfibp2
|
UTSW |
7 |
107,746,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2061:Ppfibp2
|
UTSW |
7 |
107,739,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2929:Ppfibp2
|
UTSW |
7 |
107,697,651 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3777:Ppfibp2
|
UTSW |
7 |
107,729,189 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3778:Ppfibp2
|
UTSW |
7 |
107,729,189 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4839:Ppfibp2
|
UTSW |
7 |
107,742,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4879:Ppfibp2
|
UTSW |
7 |
107,729,183 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5643:Ppfibp2
|
UTSW |
7 |
107,737,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5773:Ppfibp2
|
UTSW |
7 |
107,685,872 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R6255:Ppfibp2
|
UTSW |
7 |
107,681,762 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6356:Ppfibp2
|
UTSW |
7 |
107,681,769 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6843:Ppfibp2
|
UTSW |
7 |
107,727,731 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7051:Ppfibp2
|
UTSW |
7 |
107,717,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7194:Ppfibp2
|
UTSW |
7 |
107,722,980 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7654:Ppfibp2
|
UTSW |
7 |
107,738,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7678:Ppfibp2
|
UTSW |
7 |
107,716,666 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7895:Ppfibp2
|
UTSW |
7 |
107,721,317 (GRCm38) |
splice site |
probably null |
|
|
R8385:Ppfibp2
|
UTSW |
7 |
107,697,687 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8434:Ppfibp2
|
UTSW |
7 |
107,728,750 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8691:Ppfibp2
|
UTSW |
7 |
107,747,578 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8695:Ppfibp2
|
UTSW |
7 |
107,685,856 (GRCm38) |
splice site |
probably benign |
|
|
R8700:Ppfibp2
|
UTSW |
7 |
107,746,395 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8755:Ppfibp2
|
UTSW |
7 |
107,744,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9172:Ppfibp2
|
UTSW |
7 |
107,738,318 (GRCm38) |
nonsense |
probably null |
|
|
R9182:Ppfibp2
|
UTSW |
7 |
107,708,846 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9355:Ppfibp2
|
UTSW |
7 |
107,722,962 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9545:Ppfibp2
|
UTSW |
7 |
107,738,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9688:Ppfibp2
|
UTSW |
7 |
107,719,241 (GRCm38) |
missense |
probably benign |
0.02 |
|
RF022:Ppfibp2
|
UTSW |
7 |
107,697,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ppfibp2
|
UTSW |
7 |
107,743,050 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTATGCAAAGTCCTGGG -3'
(R):5'- GTCAGGATAGAGATGCTCTTGAG -3'
Sequencing Primer
(F):5'- GCGTATGTACATGGATGG -3'
(R):5'- CTGCGGTAGGTGCACAGAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation