Incidental Mutation 'R2148:Ppfia4'
ID |
233978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppfia4
|
Ensembl Gene |
ENSMUSG00000026458 |
Gene Name |
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 |
Synonyms |
Liprin-alpha4, 1110008G13Rik, Gm3812, LOC100042382 |
MMRRC Submission |
040151-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R2148 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134240372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 591
(I591V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000186730]
[ENSMUST00000189361]
|
AlphaFold |
B8QI36 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168515
AA Change: I874V
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000128314 Gene: ENSMUSG00000026458 AA Change: I874V
Domain | Start | End | E-Value | Type |
coiled coil region
|
22 |
127 |
N/A |
INTRINSIC |
coiled coil region
|
225 |
474 |
N/A |
INTRINSIC |
coiled coil region
|
567 |
611 |
N/A |
INTRINSIC |
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
SAM
|
826 |
895 |
1.17e-9 |
SMART |
SAM
|
941 |
1008 |
1.69e-6 |
SMART |
SAM
|
1029 |
1101 |
4.87e-7 |
SMART |
low complexity region
|
1154 |
1167 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186553
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186730
AA Change: I591V
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139800 Gene: ENSMUSG00000026458 AA Change: I591V
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
191 |
N/A |
INTRINSIC |
coiled coil region
|
284 |
328 |
N/A |
INTRINSIC |
low complexity region
|
346 |
362 |
N/A |
INTRINSIC |
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
SAM
|
543 |
612 |
7e-12 |
SMART |
SAM
|
649 |
716 |
1e-8 |
SMART |
SAM
|
737 |
809 |
2.8e-9 |
SMART |
low complexity region
|
862 |
875 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189361
AA Change: I874V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000139833 Gene: ENSMUSG00000026458 AA Change: I874V
Domain | Start | End | E-Value | Type |
coiled coil region
|
22 |
127 |
N/A |
INTRINSIC |
coiled coil region
|
225 |
474 |
N/A |
INTRINSIC |
coiled coil region
|
567 |
611 |
N/A |
INTRINSIC |
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
SAM
|
826 |
895 |
7e-12 |
SMART |
SAM
|
941 |
1008 |
1e-8 |
SMART |
SAM
|
1029 |
1101 |
2.8e-9 |
SMART |
low complexity region
|
1154 |
1167 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,565,764 (GRCm39) |
Y4796C |
probably damaging |
Het |
Actn2 |
A |
T |
13: 12,315,835 (GRCm39) |
M228K |
probably damaging |
Het |
Agbl1 |
T |
G |
7: 76,064,465 (GRCm39) |
|
probably null |
Het |
Ahi1 |
T |
G |
10: 20,846,875 (GRCm39) |
V435G |
possibly damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
Arhgap6 |
A |
G |
X: 167,579,496 (GRCm39) |
T94A |
probably benign |
Het |
Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
Bop1 |
A |
G |
15: 76,339,487 (GRCm39) |
V286A |
probably damaging |
Het |
C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
Cacna1a |
A |
T |
8: 85,356,304 (GRCm39) |
Q1887L |
possibly damaging |
Het |
Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
Cnot2 |
A |
G |
10: 116,342,185 (GRCm39) |
I173T |
probably benign |
Het |
Cntnap5b |
T |
A |
1: 100,311,199 (GRCm39) |
I564N |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
Dcaf8l |
T |
C |
X: 88,449,883 (GRCm39) |
D82G |
possibly damaging |
Het |
Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
Dgkd |
T |
G |
1: 87,809,643 (GRCm39) |
N110K |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,629,203 (GRCm39) |
R198* |
probably null |
Het |
Dnah8 |
A |
T |
17: 30,956,232 (GRCm39) |
I2071F |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,098,695 (GRCm39) |
R828Q |
probably damaging |
Het |
Fbxl4 |
T |
C |
4: 22,427,333 (GRCm39) |
F525L |
possibly damaging |
Het |
Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 34,998,701 (GRCm39) |
V343A |
probably benign |
Het |
Gpr139 |
A |
G |
7: 118,744,192 (GRCm39) |
V131A |
probably benign |
Het |
Hamp |
T |
C |
7: 30,642,137 (GRCm39) |
T34A |
possibly damaging |
Het |
Homer2 |
T |
G |
7: 81,274,043 (GRCm39) |
D51A |
possibly damaging |
Het |
Hspa1l |
C |
T |
17: 35,196,366 (GRCm39) |
A135V |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,243,998 (GRCm39) |
M112T |
possibly damaging |
Het |
Ikbkb |
A |
T |
8: 23,172,761 (GRCm39) |
L153Q |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,671,594 (GRCm39) |
I158F |
probably damaging |
Het |
L1cam |
A |
T |
X: 72,904,747 (GRCm39) |
F536Y |
probably damaging |
Het |
Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
Lhx1 |
A |
T |
11: 84,410,647 (GRCm39) |
S226T |
probably benign |
Het |
Llcfc1 |
G |
A |
6: 41,662,155 (GRCm39) |
G53D |
possibly damaging |
Het |
Loxl4 |
A |
G |
19: 42,592,631 (GRCm39) |
|
probably null |
Het |
Magee1 |
A |
T |
X: 104,166,564 (GRCm39) |
D783V |
probably damaging |
Het |
Mak |
T |
C |
13: 41,195,513 (GRCm39) |
K400R |
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,790 (GRCm39) |
F335L |
probably benign |
Het |
Mgat4f |
T |
A |
1: 134,318,251 (GRCm39) |
M341K |
probably damaging |
Het |
Mospd2 |
A |
G |
X: 163,739,473 (GRCm39) |
|
probably null |
Het |
Mtor |
T |
C |
4: 148,540,469 (GRCm39) |
F245L |
possibly damaging |
Het |
Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,087,429 (GRCm39) |
L1095H |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,733 (GRCm39) |
K506* |
probably null |
Het |
Or5d18 |
C |
A |
2: 87,864,943 (GRCm39) |
C180F |
probably damaging |
Het |
Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
Phkb |
A |
G |
8: 86,744,115 (GRCm39) |
D588G |
probably damaging |
Het |
Pkd1l2 |
A |
T |
8: 117,783,064 (GRCm39) |
I752N |
probably damaging |
Het |
Pkhd1 |
C |
A |
1: 20,484,444 (GRCm39) |
|
probably null |
Het |
Plod3 |
C |
T |
5: 137,016,627 (GRCm39) |
R30* |
probably null |
Het |
Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
Ptgs2 |
G |
T |
1: 149,981,465 (GRCm39) |
A583S |
probably benign |
Het |
Pycr2 |
T |
C |
1: 180,734,413 (GRCm39) |
V231A |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,273,807 (GRCm39) |
D540G |
probably benign |
Het |
Rasal1 |
T |
A |
5: 120,800,096 (GRCm39) |
I150N |
probably damaging |
Het |
Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
Sacs |
T |
C |
14: 61,410,827 (GRCm39) |
L34P |
probably damaging |
Het |
Sema3d |
A |
G |
5: 12,534,926 (GRCm39) |
Y106C |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,533,657 (GRCm39) |
D237E |
probably benign |
Het |
Slc19a2 |
T |
C |
1: 164,089,657 (GRCm39) |
W158R |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,365,268 (GRCm39) |
F172I |
possibly damaging |
Het |
Spaca7 |
A |
T |
8: 12,636,447 (GRCm39) |
D91V |
probably damaging |
Het |
Tead3 |
A |
G |
17: 28,552,638 (GRCm39) |
F187L |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,540,026 (GRCm39) |
W351R |
probably damaging |
Het |
Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
Trap1 |
T |
C |
16: 3,878,624 (GRCm39) |
D236G |
probably damaging |
Het |
Trim45 |
T |
A |
3: 100,839,360 (GRCm39) |
L754* |
probably null |
Het |
Tubgcp5 |
A |
G |
7: 55,449,259 (GRCm39) |
E152G |
probably damaging |
Het |
Uaca |
A |
T |
9: 60,776,961 (GRCm39) |
L447F |
probably damaging |
Het |
Vps51 |
A |
G |
19: 6,118,164 (GRCm39) |
V777A |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,230,807 (GRCm39) |
|
probably null |
Het |
Zfp462 |
T |
A |
4: 55,013,670 (GRCm39) |
S1879T |
probably benign |
Het |
Zfr2 |
T |
G |
10: 81,077,950 (GRCm39) |
V259G |
probably benign |
Het |
|
Other mutations in Ppfia4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01371:Ppfia4
|
APN |
1 |
134,255,824 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01935:Ppfia4
|
APN |
1 |
134,245,674 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02008:Ppfia4
|
APN |
1 |
134,260,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R0037:Ppfia4
|
UTSW |
1 |
134,251,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R0084:Ppfia4
|
UTSW |
1 |
134,227,164 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0108:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
R0109:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
R0109:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
R0238:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0238:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0239:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0239:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0254:Ppfia4
|
UTSW |
1 |
134,251,962 (GRCm39) |
splice site |
probably benign |
|
R0445:Ppfia4
|
UTSW |
1 |
134,255,027 (GRCm39) |
missense |
probably benign |
0.31 |
R0504:Ppfia4
|
UTSW |
1 |
134,251,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Ppfia4
|
UTSW |
1 |
134,256,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R0839:Ppfia4
|
UTSW |
1 |
134,256,545 (GRCm39) |
missense |
probably null |
1.00 |
R0849:Ppfia4
|
UTSW |
1 |
134,247,110 (GRCm39) |
missense |
probably benign |
0.45 |
R0898:Ppfia4
|
UTSW |
1 |
134,248,864 (GRCm39) |
missense |
probably benign |
|
R1173:Ppfia4
|
UTSW |
1 |
134,260,021 (GRCm39) |
splice site |
probably benign |
|
R1728:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R1812:Ppfia4
|
UTSW |
1 |
134,252,311 (GRCm39) |
missense |
probably benign |
0.04 |
R2160:Ppfia4
|
UTSW |
1 |
134,241,461 (GRCm39) |
missense |
probably benign |
0.40 |
R2308:Ppfia4
|
UTSW |
1 |
134,260,135 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2421:Ppfia4
|
UTSW |
1 |
134,255,138 (GRCm39) |
missense |
probably benign |
0.00 |
R3694:Ppfia4
|
UTSW |
1 |
134,240,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R3707:Ppfia4
|
UTSW |
1 |
134,237,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R3708:Ppfia4
|
UTSW |
1 |
134,237,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R3725:Ppfia4
|
UTSW |
1 |
134,241,449 (GRCm39) |
missense |
probably benign |
0.04 |
R3964:Ppfia4
|
UTSW |
1 |
134,250,754 (GRCm39) |
missense |
probably benign |
|
R4889:Ppfia4
|
UTSW |
1 |
134,228,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Ppfia4
|
UTSW |
1 |
134,260,239 (GRCm39) |
missense |
probably damaging |
0.97 |
R4939:Ppfia4
|
UTSW |
1 |
134,255,817 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5226:Ppfia4
|
UTSW |
1 |
134,232,024 (GRCm39) |
critical splice donor site |
probably null |
|
R5433:Ppfia4
|
UTSW |
1 |
134,245,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Ppfia4
|
UTSW |
1 |
134,250,788 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5727:Ppfia4
|
UTSW |
1 |
134,251,815 (GRCm39) |
critical splice donor site |
probably null |
|
R5793:Ppfia4
|
UTSW |
1 |
134,239,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R6193:Ppfia4
|
UTSW |
1 |
134,251,899 (GRCm39) |
missense |
probably benign |
0.04 |
R6216:Ppfia4
|
UTSW |
1 |
134,256,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6679:Ppfia4
|
UTSW |
1 |
134,237,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R6742:Ppfia4
|
UTSW |
1 |
134,256,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R7039:Ppfia4
|
UTSW |
1 |
134,239,853 (GRCm39) |
missense |
probably damaging |
0.97 |
R7206:Ppfia4
|
UTSW |
1 |
134,255,127 (GRCm39) |
missense |
probably benign |
0.00 |
R7259:Ppfia4
|
UTSW |
1 |
134,240,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Ppfia4
|
UTSW |
1 |
134,251,873 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8139:Ppfia4
|
UTSW |
1 |
134,228,266 (GRCm39) |
missense |
probably benign |
0.01 |
R8878:Ppfia4
|
UTSW |
1 |
134,227,122 (GRCm39) |
missense |
|
|
R8970:Ppfia4
|
UTSW |
1 |
134,252,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R9065:Ppfia4
|
UTSW |
1 |
134,251,893 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9087:Ppfia4
|
UTSW |
1 |
134,240,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R9187:Ppfia4
|
UTSW |
1 |
134,255,006 (GRCm39) |
missense |
probably damaging |
0.99 |
R9308:Ppfia4
|
UTSW |
1 |
134,245,556 (GRCm39) |
missense |
probably benign |
0.30 |
R9424:Ppfia4
|
UTSW |
1 |
134,247,044 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9522:Ppfia4
|
UTSW |
1 |
134,240,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R9687:Ppfia4
|
UTSW |
1 |
134,245,694 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Ppfia4
|
UTSW |
1 |
134,255,117 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAAGCAGGGCTCAGTACTCC -3'
(R):5'- AGTCTTTCACAGGCAGACTC -3'
Sequencing Primer
(F):5'- CCGCCTTCCTAAAGACCAGTAGG -3'
(R):5'- TCACAGGCAGACTCGCTCTC -3'
|
Posted On |
2014-10-01 |