Incidental Mutation 'R6255:Ppfibp2'
| ID |
506058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppfibp2
|
| Ensembl Gene |
ENSMUSG00000036528 |
| Gene Name |
PTPRF interacting protein, binding protein 2 (liprin beta 2) |
| Synonyms |
liprin beta 2, Cclp1 |
| MMRRC Submission |
044372-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
107194414-107347790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107280969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 94
(S94P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040056]
[ENSMUST00000098134]
[ENSMUST00000208956]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040056
AA Change: S94P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: S94P
| 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
AA Change: S94P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: S94P
| 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 |
noncoding transcript
Transcript: ENSMUST00000208504
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208956
AA Change: S94P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.0786 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| 4833420G17Rik |
T |
A |
13: 119,602,659 (GRCm39) |
V7E |
possibly damaging |
Het |
| Aars2 |
G |
A |
17: 45,825,535 (GRCm39) |
G333S |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,555,592 (GRCm39) |
I85N |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,985,389 (GRCm39) |
H2224Q |
possibly damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,568,487 (GRCm39) |
R41H |
possibly damaging |
Het |
| Bpifb9b |
T |
A |
2: 154,151,284 (GRCm39) |
W2R |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,779,390 (GRCm39) |
I139T |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,103,474 (GRCm39) |
N381I |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,735,011 (GRCm39) |
Y721C |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,680,749 (GRCm39) |
C256* |
probably null |
Het |
| Cherp |
G |
T |
8: 73,224,725 (GRCm39) |
A125D |
probably damaging |
Het |
| Cped1 |
G |
A |
6: 22,138,714 (GRCm39) |
|
probably null |
Het |
| Ctdp1 |
T |
A |
18: 80,502,512 (GRCm39) |
|
probably null |
Het |
| Cyp2c55 |
T |
C |
19: 39,007,111 (GRCm39) |
I169T |
probably benign |
Het |
| Cyp4a31 |
T |
C |
4: 115,432,117 (GRCm39) |
L418P |
possibly damaging |
Het |
| Efcab7 |
T |
C |
4: 99,717,627 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
T |
C |
2: 153,652,188 (GRCm39) |
W466R |
possibly damaging |
Het |
| Ehd3 |
C |
A |
17: 74,112,408 (GRCm39) |
N57K |
probably benign |
Het |
| Ern2 |
C |
A |
7: 121,772,495 (GRCm39) |
K654N |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,753,257 (GRCm39) |
F879L |
probably benign |
Het |
| Gde1 |
T |
C |
7: 118,291,004 (GRCm39) |
D92G |
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
| Ifrd2 |
A |
G |
9: 107,469,290 (GRCm39) |
E346G |
probably damaging |
Het |
| Ism1 |
AACGGACCCGTTCTTGTGGCTATGCA |
AA |
2: 139,587,962 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,888,963 (GRCm39) |
V1102A |
possibly damaging |
Het |
| Itgb6 |
A |
T |
2: 60,435,620 (GRCm39) |
I710N |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,947,705 (GRCm39) |
K1578E |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,346,902 (GRCm39) |
|
probably null |
Het |
| Kitl |
T |
C |
10: 99,925,095 (GRCm39) |
*57Q |
probably null |
Het |
| Lrat |
C |
A |
3: 82,810,812 (GRCm39) |
V70F |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,533,797 (GRCm39) |
M1022K |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,566,895 (GRCm39) |
T1875A |
unknown |
Het |
| Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
| Npas4 |
G |
A |
19: 5,036,403 (GRCm39) |
T587I |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,909,295 (GRCm39) |
V217A |
probably benign |
Het |
| Or6c1b |
A |
G |
10: 129,273,557 (GRCm39) |
N292S |
possibly damaging |
Het |
| Osbp |
C |
A |
19: 11,955,317 (GRCm39) |
A323D |
possibly damaging |
Het |
| Panx2 |
G |
A |
15: 88,951,821 (GRCm39) |
R96H |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,254,341 (GRCm39) |
R385G |
possibly damaging |
Het |
| Pkn2 |
T |
C |
3: 142,517,360 (GRCm39) |
T476A |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,203,226 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
T |
A |
2: 87,320,007 (GRCm39) |
I429L |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,975,065 (GRCm39) |
K325E |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,264,578 (GRCm39) |
Y826C |
probably damaging |
Het |
| Rsph10b |
G |
A |
5: 143,896,564 (GRCm39) |
G19R |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,049,924 (GRCm39) |
N361D |
probably damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,691,647 (GRCm39) |
D630G |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,181,314 (GRCm39) |
|
probably null |
Het |
| Tspan10 |
T |
A |
11: 120,335,368 (GRCm39) |
C159* |
probably null |
Het |
| Uba6 |
G |
A |
5: 86,312,624 (GRCm39) |
T23I |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,659 (GRCm39) |
T660A |
possibly damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,305,983 (GRCm39) |
N905S |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,488,214 (GRCm39) |
L963P |
possibly damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,359 (GRCm39) |
N452K |
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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGGTGAGGTCATCAGG -3'
(R):5'- GGTTCCCAACGCTTTCCAAC -3'
Sequencing Primer
(F):5'- GACACACCTTTTAGTGGCATG -3'
(R):5'- GCTTTCCAACAGAGGACTCG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation