Incidental Mutation 'R2846:Ppfia3'
| ID |
251595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppfia3
|
| Ensembl Gene |
ENSMUSG00000003863 |
| Gene Name |
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 |
| Synonyms |
2410127E16Rik, Liprin-alpha3 |
| MMRRC Submission |
040439-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R2846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44988550-45016443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45005852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 348
(R348L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003961]
[ENSMUST00000210248]
[ENSMUST00000211067]
|
| AlphaFold |
P60469 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003961
AA Change: R348L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: R348L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
27 |
129 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
448 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
550 |
N/A |
INTRINSIC |
|
coiled coil region
|
597 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
719 |
N/A |
INTRINSIC |
|
SAM
|
835 |
904 |
1.46e-10 |
SMART |
|
SAM
|
950 |
1017 |
8.22e-5 |
SMART |
|
SAM
|
1038 |
1110 |
3.58e-5 |
SMART |
|
low complexity region
|
1156 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107779
AA Change: R348L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103408
Gene: ENSMUSG00000003863
AA Change: R348L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
27 |
129 |
N/A |
INTRINSIC |
|
coiled coil region
|
167 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
448 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
550 |
N/A |
INTRINSIC |
|
coiled coil region
|
597 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
719 |
N/A |
INTRINSIC |
|
SAM
|
835 |
904 |
1.46e-10 |
SMART |
|
SAM
|
950 |
1017 |
8.22e-5 |
SMART |
|
SAM
|
1038 |
1110 |
3.58e-5 |
SMART |
|
low complexity region
|
1156 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137578
AA Change: R197L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118183
Gene: ENSMUSG00000003863
AA Change: R197L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
16 |
275 |
N/A |
INTRINSIC |
|
coiled coil region
|
297 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
399 |
N/A |
INTRINSIC |
|
coiled coil region
|
446 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
568 |
N/A |
INTRINSIC |
|
SAM
|
684 |
753 |
1.46e-10 |
SMART |
|
SAM
|
790 |
857 |
8.22e-5 |
SMART |
|
SAM
|
878 |
950 |
3.58e-5 |
SMART |
|
low complexity region
|
996 |
1009 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210248
AA Change: R197L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210586
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211067
AA Change: R348L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4975 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
| Ddx4 |
T |
A |
13: 112,741,146 (GRCm39) |
K496M |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
| Kremen1 |
GG |
GGGCG |
11: 5,151,793 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,144,395 (GRCm39) |
D624G |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,230 (GRCm39) |
N180D |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
probably benign |
Het |
|
| Other mutations in Ppfia3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Ppfia3
|
APN |
7 |
45,009,481 (GRCm39) |
splice site |
probably null |
|
|
IGL02086:Ppfia3
|
APN |
7 |
44,989,996 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02160:Ppfia3
|
APN |
7 |
45,009,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL02373:Ppfia3
|
APN |
7 |
45,008,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02417:Ppfia3
|
APN |
7 |
44,991,141 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02501:Ppfia3
|
APN |
7 |
45,004,362 (GRCm39) |
splice site |
probably benign |
|
|
IGL02638:Ppfia3
|
APN |
7 |
45,006,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03084:Ppfia3
|
APN |
7 |
44,989,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0207:Ppfia3
|
UTSW |
7 |
44,997,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Ppfia3
|
UTSW |
7 |
44,997,146 (GRCm39) |
splice site |
probably benign |
|
|
R1086:Ppfia3
|
UTSW |
7 |
45,011,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Ppfia3
|
UTSW |
7 |
45,001,639 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1146:Ppfia3
|
UTSW |
7 |
45,001,639 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1566:Ppfia3
|
UTSW |
7 |
44,990,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Ppfia3
|
UTSW |
7 |
45,006,090 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1876:Ppfia3
|
UTSW |
7 |
45,001,631 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2219:Ppfia3
|
UTSW |
7 |
45,004,314 (GRCm39) |
nonsense |
probably null |
|
|
R2336:Ppfia3
|
UTSW |
7 |
45,006,121 (GRCm39) |
splice site |
probably null |
|
|
R2843:Ppfia3
|
UTSW |
7 |
45,005,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2844:Ppfia3
|
UTSW |
7 |
45,005,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Ppfia3
|
UTSW |
7 |
45,001,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Ppfia3
|
UTSW |
7 |
44,990,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Ppfia3
|
UTSW |
7 |
44,990,050 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4994:Ppfia3
|
UTSW |
7 |
44,990,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Ppfia3
|
UTSW |
7 |
44,991,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5821:Ppfia3
|
UTSW |
7 |
45,003,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6116:Ppfia3
|
UTSW |
7 |
45,004,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6515:Ppfia3
|
UTSW |
7 |
44,989,657 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6868:Ppfia3
|
UTSW |
7 |
45,003,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6920:Ppfia3
|
UTSW |
7 |
45,008,231 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6935:Ppfia3
|
UTSW |
7 |
45,001,631 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6978:Ppfia3
|
UTSW |
7 |
44,996,272 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7017:Ppfia3
|
UTSW |
7 |
45,008,224 (GRCm39) |
missense |
probably benign |
|
|
R7027:Ppfia3
|
UTSW |
7 |
45,004,160 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7078:Ppfia3
|
UTSW |
7 |
45,010,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Ppfia3
|
UTSW |
7 |
44,991,167 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7378:Ppfia3
|
UTSW |
7 |
45,010,870 (GRCm39) |
splice site |
probably null |
|
|
R7570:Ppfia3
|
UTSW |
7 |
44,990,172 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7814:Ppfia3
|
UTSW |
7 |
45,001,686 (GRCm39) |
missense |
probably benign |
|
|
R8298:Ppfia3
|
UTSW |
7 |
45,009,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Ppfia3
|
UTSW |
7 |
45,011,129 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8781:Ppfia3
|
UTSW |
7 |
44,997,953 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8843:Ppfia3
|
UTSW |
7 |
44,997,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8901:Ppfia3
|
UTSW |
7 |
44,991,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Ppfia3
|
UTSW |
7 |
44,990,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Ppfia3
|
UTSW |
7 |
44,999,717 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9284:Ppfia3
|
UTSW |
7 |
45,011,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9427:Ppfia3
|
UTSW |
7 |
45,008,213 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9683:Ppfia3
|
UTSW |
7 |
45,005,999 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9803:Ppfia3
|
UTSW |
7 |
44,990,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGTTCCCATGGCGTTCC -3'
(R):5'- ATGCCAACGACAAGCTGGAG -3'
Sequencing Primer
(F):5'- TTCCTCAGCCTAGTGGACAG -3'
(R):5'- CTGGAGAATGAGTTGGCCAGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation