Incidental Mutation 'R6992:Ppfia2'
| ID |
543916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppfia2
|
| Ensembl Gene |
ENSMUSG00000053825 |
| Gene Name |
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 |
| Synonyms |
Liprin-alpha2, E130120L08Rik |
| MMRRC Submission |
045098-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
106305129-106769329 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106310715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 74
(Q74L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029404]
[ENSMUST00000217854]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029404
AA Change: Q74L
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: Q74L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
|
coiled coil region
|
32 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
102 |
150 |
N/A |
INTRINSIC |
|
coiled coil region
|
189 |
234 |
N/A |
INTRINSIC |
|
coiled coil region
|
267 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
|
coiled coil region
|
643 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
725 |
N/A |
INTRINSIC |
|
SAM
|
895 |
964 |
6.27e-10 |
SMART |
|
low complexity region
|
965 |
977 |
N/A |
INTRINSIC |
|
SAM
|
1017 |
1084 |
1.69e-6 |
SMART |
|
SAM
|
1105 |
1177 |
6.62e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217854
AA Change: Q74L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (64/64) |
| 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 has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,099,990 (GRCm39) |
S171N |
possibly damaging |
Het |
| 6030468B19Rik |
T |
G |
11: 117,688,594 (GRCm39) |
M1R |
probably null |
Het |
| A730049H05Rik |
T |
C |
6: 92,804,975 (GRCm39) |
|
probably benign |
Het |
| AC125199.3 |
G |
T |
16: 88,608,915 (GRCm39) |
H52Q |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,105,642 (GRCm39) |
M1K |
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,763,214 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
T |
C |
5: 98,108,564 (GRCm39) |
T316A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,861,542 (GRCm39) |
V714D |
probably damaging |
Het |
| Cd96 |
A |
G |
16: 45,870,087 (GRCm39) |
S461P |
possibly damaging |
Het |
| Cdc16 |
C |
A |
8: 13,809,188 (GRCm39) |
A51E |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,091,339 (GRCm39) |
D1243E |
probably benign |
Het |
| Cntf |
A |
T |
19: 12,742,697 (GRCm39) |
I21N |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,266,118 (GRCm39) |
A282V |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,274,958 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
T |
C |
7: 25,900,564 (GRCm39) |
Y401H |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,590,860 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,547,979 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,608 (GRCm39) |
F474I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,599 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Gstm4 |
A |
G |
3: 107,951,981 (GRCm39) |
M3T |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,009,534 (GRCm39) |
D466G |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,729,185 (GRCm39) |
E625G |
probably damaging |
Het |
| Hspbp1 |
G |
C |
7: 4,667,714 (GRCm39) |
P260A |
probably benign |
Het |
| Igdcc3 |
C |
A |
9: 65,088,853 (GRCm39) |
Q411K |
probably damaging |
Het |
| Il18rap |
G |
A |
1: 40,581,195 (GRCm39) |
E356K |
probably benign |
Het |
| Inpp4a |
A |
T |
1: 37,428,772 (GRCm39) |
M699L |
probably damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,300,531 (GRCm39) |
H157R |
probably damaging |
Het |
| Klhl6 |
G |
T |
16: 19,772,337 (GRCm39) |
T336N |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,059,428 (GRCm39) |
|
probably null |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mlh3 |
T |
A |
12: 85,282,494 (GRCm39) |
N1412Y |
probably damaging |
Het |
| Mrps27 |
A |
G |
13: 99,541,522 (GRCm39) |
M209V |
probably benign |
Het |
| Mtor |
A |
T |
4: 148,548,932 (GRCm39) |
T572S |
probably benign |
Het |
| Neurog1 |
T |
C |
13: 56,399,363 (GRCm39) |
K128R |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,896 (GRCm39) |
L69* |
probably null |
Het |
| Or2b4 |
T |
A |
17: 38,116,754 (GRCm39) |
N239K |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,562,811 (GRCm39) |
I48V |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,652 (GRCm39) |
K381R |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,457,945 (GRCm39) |
D306G |
probably damaging |
Het |
| Plekha5 |
C |
T |
6: 140,489,634 (GRCm39) |
T237I |
probably damaging |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,725 (GRCm39) |
M128T |
probably benign |
Het |
| Pole |
A |
T |
5: 110,480,365 (GRCm39) |
I103F |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,223,178 (GRCm39) |
F261S |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,388,668 (GRCm39) |
|
probably null |
Het |
| Ptprg |
T |
A |
14: 11,962,602 (GRCm38) |
F133L |
probably damaging |
Het |
| Rom1 |
G |
A |
19: 8,906,569 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,412,489 (GRCm39) |
F762L |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,367,164 (GRCm39) |
S600P |
probably benign |
Het |
| Sema4b |
T |
A |
7: 79,869,900 (GRCm39) |
I396N |
probably damaging |
Het |
| Serpina3k |
T |
A |
12: 104,307,366 (GRCm39) |
D199E |
probably benign |
Het |
| Slc19a1 |
A |
G |
10: 76,885,540 (GRCm39) |
D480G |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,665,880 (GRCm39) |
V404M |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,765,330 (GRCm39) |
D304G |
probably benign |
Het |
| Smpdl3b |
G |
T |
4: 132,472,452 (GRCm39) |
A107D |
possibly damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,937,940 (GRCm39) |
F203L |
probably benign |
Het |
| Tnip1 |
T |
A |
11: 54,809,542 (GRCm39) |
I442F |
probably benign |
Het |
| Txnip |
A |
G |
3: 96,466,439 (GRCm39) |
K127R |
possibly damaging |
Het |
| Usp32 |
A |
C |
11: 84,922,914 (GRCm39) |
L172R |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,436 (GRCm39) |
S508P |
possibly damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,952 (GRCm39) |
Y550N |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,342,612 (GRCm39) |
A885V |
probably benign |
Het |
|
| Other mutations in Ppfia2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Ppfia2
|
APN |
10 |
106,655,353 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01296:Ppfia2
|
APN |
10 |
106,694,068 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01385:Ppfia2
|
APN |
10 |
106,749,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01592:Ppfia2
|
APN |
10 |
106,671,909 (GRCm39) |
splice site |
probably benign |
|
|
IGL01899:Ppfia2
|
APN |
10 |
106,751,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02063:Ppfia2
|
APN |
10 |
106,740,706 (GRCm39) |
missense |
probably null |
0.83 |
|
IGL02143:Ppfia2
|
APN |
10 |
106,693,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Ppfia2
|
APN |
10 |
106,636,646 (GRCm39) |
missense |
probably benign |
|
|
IGL02565:Ppfia2
|
APN |
10 |
106,699,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02573:Ppfia2
|
APN |
10 |
106,664,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02819:Ppfia2
|
APN |
10 |
106,742,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Ppfia2
|
APN |
10 |
106,636,637 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03165:Ppfia2
|
APN |
10 |
106,603,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03255:Ppfia2
|
APN |
10 |
106,732,368 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Colorless
|
UTSW |
10 |
106,749,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4458001:Ppfia2
|
UTSW |
10 |
106,763,708 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0018:Ppfia2
|
UTSW |
10 |
106,678,647 (GRCm39) |
splice site |
probably benign |
|
|
R0018:Ppfia2
|
UTSW |
10 |
106,678,647 (GRCm39) |
splice site |
probably benign |
|
|
R0323:Ppfia2
|
UTSW |
10 |
106,732,281 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0391:Ppfia2
|
UTSW |
10 |
106,666,575 (GRCm39) |
splice site |
probably benign |
|
|
R0667:Ppfia2
|
UTSW |
10 |
106,749,555 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0782:Ppfia2
|
UTSW |
10 |
106,763,592 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0905:Ppfia2
|
UTSW |
10 |
106,655,372 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1401:Ppfia2
|
UTSW |
10 |
106,666,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1672:Ppfia2
|
UTSW |
10 |
106,666,429 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1723:Ppfia2
|
UTSW |
10 |
106,751,533 (GRCm39) |
splice site |
probably null |
|
|
R1780:Ppfia2
|
UTSW |
10 |
106,732,368 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1847:Ppfia2
|
UTSW |
10 |
106,763,571 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2015:Ppfia2
|
UTSW |
10 |
106,310,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2051:Ppfia2
|
UTSW |
10 |
106,673,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2061:Ppfia2
|
UTSW |
10 |
106,673,190 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2115:Ppfia2
|
UTSW |
10 |
106,597,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2310:Ppfia2
|
UTSW |
10 |
106,690,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2394:Ppfia2
|
UTSW |
10 |
106,655,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2656:Ppfia2
|
UTSW |
10 |
106,701,268 (GRCm39) |
splice site |
probably null |
|
|
R3113:Ppfia2
|
UTSW |
10 |
106,742,256 (GRCm39) |
nonsense |
probably null |
|
|
R3968:Ppfia2
|
UTSW |
10 |
106,742,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3977:Ppfia2
|
UTSW |
10 |
106,666,490 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3978:Ppfia2
|
UTSW |
10 |
106,666,490 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3979:Ppfia2
|
UTSW |
10 |
106,666,490 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4567:Ppfia2
|
UTSW |
10 |
106,701,267 (GRCm39) |
splice site |
probably null |
|
|
R4632:Ppfia2
|
UTSW |
10 |
106,671,905 (GRCm39) |
splice site |
probably null |
|
|
R4718:Ppfia2
|
UTSW |
10 |
106,694,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Ppfia2
|
UTSW |
10 |
106,597,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Ppfia2
|
UTSW |
10 |
106,597,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Ppfia2
|
UTSW |
10 |
106,751,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4841:Ppfia2
|
UTSW |
10 |
106,690,818 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4842:Ppfia2
|
UTSW |
10 |
106,690,818 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4914:Ppfia2
|
UTSW |
10 |
106,597,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Ppfia2
|
UTSW |
10 |
106,597,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Ppfia2
|
UTSW |
10 |
106,597,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Ppfia2
|
UTSW |
10 |
106,701,224 (GRCm39) |
nonsense |
probably null |
|
|
R5029:Ppfia2
|
UTSW |
10 |
106,693,304 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5127:Ppfia2
|
UTSW |
10 |
106,671,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5357:Ppfia2
|
UTSW |
10 |
106,740,708 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5420:Ppfia2
|
UTSW |
10 |
106,671,562 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6030:Ppfia2
|
UTSW |
10 |
106,742,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Ppfia2
|
UTSW |
10 |
106,742,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Ppfia2
|
UTSW |
10 |
106,693,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Ppfia2
|
UTSW |
10 |
106,749,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Ppfia2
|
UTSW |
10 |
106,749,559 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6457:Ppfia2
|
UTSW |
10 |
106,729,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6542:Ppfia2
|
UTSW |
10 |
106,671,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6674:Ppfia2
|
UTSW |
10 |
106,763,633 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6746:Ppfia2
|
UTSW |
10 |
106,742,319 (GRCm39) |
nonsense |
probably null |
|
|
R7060:Ppfia2
|
UTSW |
10 |
106,597,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Ppfia2
|
UTSW |
10 |
106,693,356 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7453:Ppfia2
|
UTSW |
10 |
106,763,691 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7555:Ppfia2
|
UTSW |
10 |
106,763,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7622:Ppfia2
|
UTSW |
10 |
106,666,520 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7637:Ppfia2
|
UTSW |
10 |
106,701,264 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7866:Ppfia2
|
UTSW |
10 |
106,655,390 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7897:Ppfia2
|
UTSW |
10 |
106,655,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7937:Ppfia2
|
UTSW |
10 |
106,699,233 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7938:Ppfia2
|
UTSW |
10 |
106,310,648 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8218:Ppfia2
|
UTSW |
10 |
106,699,236 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8431:Ppfia2
|
UTSW |
10 |
106,671,952 (GRCm39) |
nonsense |
probably null |
|
|
R8806:Ppfia2
|
UTSW |
10 |
106,694,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Ppfia2
|
UTSW |
10 |
106,694,439 (GRCm39) |
intron |
probably benign |
|
|
R9008:Ppfia2
|
UTSW |
10 |
106,655,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9014:Ppfia2
|
UTSW |
10 |
106,763,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9182:Ppfia2
|
UTSW |
10 |
106,763,640 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9201:Ppfia2
|
UTSW |
10 |
106,678,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9249:Ppfia2
|
UTSW |
10 |
106,749,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Ppfia2
|
UTSW |
10 |
106,749,519 (GRCm39) |
missense |
|
|
|
R9710:Ppfia2
|
UTSW |
10 |
106,664,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0021:Ppfia2
|
UTSW |
10 |
106,310,538 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0022:Ppfia2
|
UTSW |
10 |
106,729,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ppfia2
|
UTSW |
10 |
106,310,506 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Ppfia2
|
UTSW |
10 |
106,742,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGAAGTGATGCCCAC -3'
(R):5'- CAGATTTTGTACAAGGGAAAGTTGG -3'
Sequencing Primer
(F):5'- TGATGCCCACGATTAACGAG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation