Incidental Mutation 'R3778:Ppfibp2'
ID |
271898 |
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 |
040750-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3778 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
107194414-107347790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107328396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 476
(T476A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040056]
[ENSMUST00000098134]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040056
AA Change: T487A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042574 Gene: ENSMUSG00000036528 AA Change: T487A
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: T476A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000095738 Gene: ENSMUSG00000036528 AA Change: T476A
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
T |
15: 64,618,846 (GRCm39) |
L769H |
probably damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,696,675 (GRCm39) |
M106K |
possibly damaging |
Het |
Ankfn1 |
G |
T |
11: 89,332,220 (GRCm39) |
P442Q |
probably damaging |
Het |
Aox1 |
A |
C |
1: 58,092,862 (GRCm39) |
D158A |
possibly damaging |
Het |
Apc |
A |
G |
18: 34,446,134 (GRCm39) |
N976S |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,740,206 (GRCm39) |
|
probably benign |
Het |
Cldn1 |
C |
T |
16: 26,190,216 (GRCm39) |
C54Y |
probably damaging |
Het |
Col22a1 |
A |
T |
15: 71,845,541 (GRCm39) |
I407N |
probably damaging |
Het |
Cyp2e1 |
T |
C |
7: 140,343,822 (GRCm39) |
V20A |
possibly damaging |
Het |
Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
Fbn1 |
C |
T |
2: 125,159,006 (GRCm39) |
C2253Y |
probably damaging |
Het |
Fhip1b |
T |
A |
7: 105,037,435 (GRCm39) |
T383S |
probably damaging |
Het |
Flnb |
G |
A |
14: 7,915,353 (GRCm38) |
V1495I |
probably benign |
Het |
Fscn3 |
A |
C |
6: 28,430,031 (GRCm39) |
K67T |
possibly damaging |
Het |
Gls |
A |
G |
1: 52,208,071 (GRCm39) |
V571A |
probably benign |
Het |
Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
Gm4871 |
A |
G |
5: 144,966,893 (GRCm39) |
S197P |
probably damaging |
Het |
Gm7104 |
A |
T |
12: 88,252,441 (GRCm39) |
|
noncoding transcript |
Het |
Gp9 |
A |
T |
6: 87,755,987 (GRCm39) |
M1L |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,469,444 (GRCm39) |
L153H |
possibly damaging |
Het |
H1f8 |
T |
C |
6: 115,926,708 (GRCm39) |
|
probably null |
Het |
Hadha |
A |
T |
5: 30,325,127 (GRCm39) |
C688S |
probably damaging |
Het |
Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,678,575 (GRCm39) |
D515E |
possibly damaging |
Het |
Hsfy2 |
A |
T |
1: 56,675,847 (GRCm39) |
V230E |
possibly damaging |
Het |
Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,314,446 (GRCm39) |
D632G |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,365,277 (GRCm39) |
I625T |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,339,548 (GRCm39) |
M1121K |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
Mei1 |
T |
C |
15: 81,966,209 (GRCm39) |
L277P |
probably damaging |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,434,721 (GRCm39) |
I2241F |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,702,128 (GRCm39) |
T461M |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,263,115 (GRCm39) |
S440P |
probably damaging |
Het |
Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,053,939 (GRCm39) |
S2201P |
probably damaging |
Het |
Or10c1 |
T |
C |
17: 37,522,649 (GRCm39) |
T32A |
probably benign |
Het |
Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
Pard6g |
A |
T |
18: 80,123,038 (GRCm39) |
|
probably null |
Het |
Pask |
T |
A |
1: 93,255,189 (GRCm39) |
I294F |
probably damaging |
Het |
Pax9 |
A |
G |
12: 56,743,533 (GRCm39) |
Y60C |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 73,782,983 (GRCm39) |
|
probably null |
Het |
Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
Ppm1e |
T |
C |
11: 87,139,754 (GRCm39) |
|
probably null |
Het |
Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
Sec24c |
A |
G |
14: 20,733,375 (GRCm39) |
Q234R |
possibly damaging |
Het |
Shcbp1 |
A |
T |
8: 4,786,295 (GRCm39) |
N602K |
probably benign |
Het |
Sirt5 |
A |
G |
13: 43,536,583 (GRCm39) |
|
probably null |
Het |
Slc66a1 |
T |
C |
4: 139,026,293 (GRCm39) |
|
probably null |
Het |
Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
Tmem235 |
A |
T |
11: 117,753,126 (GRCm39) |
H83L |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,036,636 (GRCm39) |
V861A |
possibly damaging |
Het |
Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
Wnt6 |
A |
C |
1: 74,821,941 (GRCm39) |
D174A |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,601,347 (GRCm39) |
C355R |
probably benign |
Het |
Zfp229 |
A |
T |
17: 21,964,183 (GRCm39) |
T138S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCTTGGAAGTGTTCTCAAACTC -3'
(R):5'- TCCACAGCTATGCAAATGTGG -3'
Sequencing Primer
(F):5'- CCAGGCATCTTGGTATGGAGCTC -3'
(R):5'- CTATGCAAATGTGGGGTAAAGC -3'
|
Posted On |
2015-03-25 |