Incidental Mutation 'R5388:Ppfibp1'
| ID |
425409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppfibp1
|
| Ensembl Gene |
ENSMUSG00000016487 |
| Gene Name |
PTPRF interacting protein, binding protein 1 (liprin beta 1) |
| Synonyms |
|
| MMRRC Submission |
042960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.808)
|
| Stock # |
R5388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
146789985-146933523 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 146917828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 484
(S484A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016631]
[ENSMUST00000111623]
[ENSMUST00000136837]
|
| AlphaFold |
Q8C8U0 |
| PDB Structure |
Crystal Structure of the Liprin-alpha/Liprin-beta complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016631
AA Change: S484A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: S484A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
PDB:3QH9|A
|
180 |
256 |
3e-8 |
PDB |
|
low complexity region
|
345 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
546 |
N/A |
INTRINSIC |
|
SAM
|
603 |
670 |
3.06e-13 |
SMART |
|
SAM
|
675 |
741 |
2.39e-15 |
SMART |
|
SAM
|
763 |
835 |
7.91e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111623
AA Change: S495A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: S495A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
PDB:3QH9|A
|
180 |
256 |
3e-8 |
PDB |
|
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
557 |
N/A |
INTRINSIC |
|
SAM
|
614 |
681 |
3.06e-13 |
SMART |
|
SAM
|
686 |
752 |
2.39e-15 |
SMART |
|
SAM
|
774 |
846 |
7.91e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123902
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136837
AA Change: S72A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114340
Gene: ENSMUSG00000016487
AA Change: S72A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149203
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155415
AA Change: S186A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121270
Gene: ENSMUSG00000016487
AA Change: S186A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
249 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3309 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,969 (GRCm39) |
|
probably null |
Het |
| Acap2 |
C |
A |
16: 30,928,543 (GRCm39) |
C475F |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,879,284 (GRCm39) |
P603Q |
possibly damaging |
Het |
| Adamts20 |
C |
G |
15: 94,243,659 (GRCm39) |
V657L |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,125,458 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
G |
A |
8: 69,554,089 (GRCm39) |
V89I |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,353,542 (GRCm39) |
P676L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,654,276 (GRCm39) |
I649F |
probably damaging |
Het |
| Camta1 |
G |
T |
4: 151,159,695 (GRCm39) |
S490R |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,809,719 (GRCm39) |
I2221T |
probably damaging |
Het |
| Cfd |
A |
T |
10: 79,727,959 (GRCm39) |
D164V |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,384 (GRCm39) |
D278G |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,809,523 (GRCm39) |
L519F |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Cybrd1 |
T |
C |
2: 70,967,989 (GRCm39) |
|
probably null |
Het |
| Cyp2e1 |
T |
C |
7: 140,343,906 (GRCm39) |
L48P |
probably damaging |
Het |
| Eddm13 |
T |
C |
7: 6,269,346 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
| Exosc7 |
A |
T |
9: 122,947,972 (GRCm39) |
D47V |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,722,342 (GRCm39) |
F204L |
probably damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,560 (GRCm39) |
V81M |
probably benign |
Het |
| Gm12367 |
T |
C |
4: 35,235,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grxcr1 |
C |
A |
5: 68,323,538 (GRCm39) |
T272K |
probably damaging |
Het |
| Kcna5 |
C |
T |
6: 126,511,859 (GRCm39) |
D90N |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,635 (GRCm39) |
Y618* |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,832,539 (GRCm39) |
H1670L |
possibly damaging |
Het |
| Mtus2 |
C |
T |
5: 148,243,518 (GRCm39) |
Q113* |
probably null |
Het |
| Ncam1 |
A |
C |
9: 49,456,054 (GRCm39) |
D521E |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,651,740 (GRCm39) |
H291R |
possibly damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,062,967 (GRCm39) |
N695H |
probably damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,164,733 (GRCm39) |
Q1105H |
probably damaging |
Het |
| Paxip1 |
C |
G |
5: 27,986,453 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,583,695 (GRCm39) |
W136R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,741,856 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkn3 |
T |
A |
2: 29,971,086 (GRCm39) |
S222T |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,280,312 (GRCm39) |
F127L |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,954 (GRCm39) |
Y210H |
probably benign |
Het |
| Rad21l |
C |
T |
2: 151,495,403 (GRCm39) |
V427I |
probably benign |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rnf225 |
A |
G |
7: 12,661,932 (GRCm39) |
D37G |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,967 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,119,561 (GRCm39) |
Q4483R |
probably damaging |
Het |
| Tmem38b |
C |
T |
4: 53,859,945 (GRCm39) |
R242W |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,603,158 (GRCm39) |
K1035I |
possibly damaging |
Het |
| Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,819,294 (GRCm39) |
D252G |
probably benign |
Het |
| Usp14 |
C |
T |
18: 10,018,023 (GRCm39) |
E90K |
probably damaging |
Het |
| Yme1l1 |
T |
G |
2: 23,052,569 (GRCm39) |
D74E |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,990,092 (GRCm39) |
L732Q |
possibly damaging |
Het |
| Zbbx |
G |
T |
3: 74,990,977 (GRCm39) |
A289D |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,446 (GRCm39) |
V1499I |
possibly damaging |
Het |
| Zfp622 |
T |
C |
15: 25,996,285 (GRCm39) |
V184A |
possibly damaging |
Het |
|
| Other mutations in Ppfibp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Ppfibp1
|
APN |
6 |
146,931,195 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02644:Ppfibp1
|
APN |
6 |
146,923,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02711:Ppfibp1
|
APN |
6 |
146,927,736 (GRCm39) |
nonsense |
probably null |
|
|
IGL02737:Ppfibp1
|
APN |
6 |
146,928,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02745:Ppfibp1
|
APN |
6 |
146,923,852 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03120:Ppfibp1
|
APN |
6 |
146,899,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03300:Ppfibp1
|
APN |
6 |
146,931,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Ppfibp1
|
UTSW |
6 |
146,899,731 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0480:Ppfibp1
|
UTSW |
6 |
146,920,529 (GRCm39) |
splice site |
probably null |
|
|
R0699:Ppfibp1
|
UTSW |
6 |
146,927,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1515:Ppfibp1
|
UTSW |
6 |
146,928,930 (GRCm39) |
missense |
probably benign |
|
|
R1830:Ppfibp1
|
UTSW |
6 |
146,923,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1858:Ppfibp1
|
UTSW |
6 |
146,892,090 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2160:Ppfibp1
|
UTSW |
6 |
146,928,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2389:Ppfibp1
|
UTSW |
6 |
146,923,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Ppfibp1
|
UTSW |
6 |
146,893,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Ppfibp1
|
UTSW |
6 |
146,899,719 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4035:Ppfibp1
|
UTSW |
6 |
146,898,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4202:Ppfibp1
|
UTSW |
6 |
146,931,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Ppfibp1
|
UTSW |
6 |
146,931,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4420:Ppfibp1
|
UTSW |
6 |
146,927,736 (GRCm39) |
nonsense |
probably null |
|
|
R4860:Ppfibp1
|
UTSW |
6 |
146,892,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4860:Ppfibp1
|
UTSW |
6 |
146,892,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4974:Ppfibp1
|
UTSW |
6 |
146,931,917 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5163:Ppfibp1
|
UTSW |
6 |
146,923,629 (GRCm39) |
splice site |
probably null |
|
|
R5180:Ppfibp1
|
UTSW |
6 |
146,928,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Ppfibp1
|
UTSW |
6 |
146,898,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Ppfibp1
|
UTSW |
6 |
146,913,933 (GRCm39) |
intron |
probably benign |
|
|
R5479:Ppfibp1
|
UTSW |
6 |
146,931,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5631:Ppfibp1
|
UTSW |
6 |
146,898,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Ppfibp1
|
UTSW |
6 |
146,907,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6577:Ppfibp1
|
UTSW |
6 |
146,901,153 (GRCm39) |
splice site |
probably null |
|
|
R6602:Ppfibp1
|
UTSW |
6 |
146,879,719 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7320:Ppfibp1
|
UTSW |
6 |
146,879,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7440:Ppfibp1
|
UTSW |
6 |
146,921,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7455:Ppfibp1
|
UTSW |
6 |
146,917,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Ppfibp1
|
UTSW |
6 |
146,897,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8379:Ppfibp1
|
UTSW |
6 |
146,931,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8439:Ppfibp1
|
UTSW |
6 |
146,902,448 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8692:Ppfibp1
|
UTSW |
6 |
146,892,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8913:Ppfibp1
|
UTSW |
6 |
146,923,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8926:Ppfibp1
|
UTSW |
6 |
146,920,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8943:Ppfibp1
|
UTSW |
6 |
146,920,681 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9166:Ppfibp1
|
UTSW |
6 |
146,920,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9372:Ppfibp1
|
UTSW |
6 |
146,898,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9800:Ppfibp1
|
UTSW |
6 |
146,917,769 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTTGAGCCCAGCCTCTC -3'
(R):5'- GGGGTAAGAGCTGACTTATCTTC -3'
Sequencing Primer
(F):5'- GATTTGAGCCCAGCCTCTCCTAAG -3'
(R):5'- ACTGAAGCATTTTTGCTAACCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation