Incidental Mutation 'R9308:Ppfia4'
| ID |
705310 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R9308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134245556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 666
(V666A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000186730]
[ENSMUST00000189361]
|
| AlphaFold |
B8QI36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168515
AA Change: V666A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: V666A
| 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 |
possibly damaging
Transcript: ENSMUST00000186730
AA Change: V383A
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: V383A
| 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: V666A
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: V666A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,220,667 (GRCm39) |
E389* |
probably null |
Het |
| 2700049A03Rik |
T |
C |
12: 71,231,233 (GRCm39) |
V997A |
probably benign |
Het |
| 9930012K11Rik |
A |
G |
14: 70,393,863 (GRCm39) |
|
probably null |
Het |
| Acss3 |
C |
G |
10: 106,959,282 (GRCm39) |
G55R |
possibly damaging |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Acy3 |
C |
T |
19: 4,038,451 (GRCm39) |
R193W |
probably damaging |
Het |
| Adam15 |
T |
C |
3: 89,254,790 (GRCm39) |
D90G |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,857,875 (GRCm39) |
D833G |
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,300 (GRCm39) |
S40G |
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,854,061 (GRCm39) |
M1777K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,513,089 (GRCm39) |
E171G |
probably benign |
Het |
| Cblb |
A |
G |
16: 52,009,374 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
T |
C |
4: 70,328,504 (GRCm39) |
M1V |
probably null |
Het |
| Clca4a |
T |
G |
3: 144,676,183 (GRCm39) |
E117A |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,200,118 (GRCm39) |
|
probably null |
Het |
| Crygd |
T |
C |
1: 65,101,220 (GRCm39) |
N125S |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,655,585 (GRCm39) |
H482L |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
| Dgkg |
C |
A |
16: 22,429,528 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
C |
7: 105,353,484 (GRCm39) |
V2879A |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,728,744 (GRCm39) |
C1307* |
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,706,968 (GRCm39) |
M505K |
probably benign |
Het |
| Fam131a |
A |
G |
16: 20,520,582 (GRCm39) |
D345G |
probably damaging |
Het |
| Fbxw17 |
G |
T |
13: 50,572,004 (GRCm39) |
R24L |
probably benign |
Het |
| Gmcl1 |
A |
C |
6: 86,691,239 (GRCm39) |
I252R |
possibly damaging |
Het |
| Gpr150 |
G |
A |
13: 76,203,701 (GRCm39) |
R415C |
probably damaging |
Het |
| Gtf3c4 |
G |
A |
2: 28,724,982 (GRCm39) |
S250L |
probably damaging |
Het |
| Irs3 |
G |
A |
5: 137,642,343 (GRCm39) |
A365V |
possibly damaging |
Het |
| Jph4 |
C |
A |
14: 55,346,981 (GRCm39) |
G522V |
probably damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,305,434 (GRCm39) |
G302R |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,918,291 (GRCm39) |
L621H |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,503,945 (GRCm39) |
E124G |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,970,722 (GRCm39) |
L203P |
probably damaging |
Het |
| Mapk15 |
T |
A |
15: 75,865,714 (GRCm39) |
C2* |
probably null |
Het |
| Mga |
T |
A |
2: 119,754,369 (GRCm39) |
N959K |
possibly damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,655 (GRCm39) |
N23K |
possibly damaging |
Het |
| Myo10 |
G |
T |
15: 25,781,862 (GRCm39) |
S1119I |
probably damaging |
Het |
| Or12e13 |
G |
A |
2: 87,663,523 (GRCm39) |
G47R |
probably damaging |
Het |
| Or14j4 |
A |
G |
17: 37,921,246 (GRCm39) |
V132A |
possibly damaging |
Het |
| Or2a12 |
G |
T |
6: 42,904,749 (GRCm39) |
V195F |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,931 (GRCm39) |
H158L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,501 (GRCm39) |
V27A |
probably benign |
Het |
| Ovch2 |
T |
C |
7: 107,389,560 (GRCm39) |
E329G |
probably benign |
Het |
| Pkn2 |
C |
T |
3: 142,517,724 (GRCm39) |
R458Q |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,097,535 (GRCm39) |
|
probably null |
Het |
| Psmb10 |
T |
C |
8: 106,662,662 (GRCm39) |
R226G |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,740,569 (GRCm39) |
V78A |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,450,850 (GRCm39) |
M1004V |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,668,297 (GRCm39) |
S626T |
probably benign |
Het |
| Rad21l |
T |
C |
2: 151,491,049 (GRCm39) |
T473A |
probably benign |
Het |
| Rassf7 |
T |
C |
7: 140,798,063 (GRCm39) |
S344P |
probably benign |
Het |
| Rbbp6 |
T |
C |
7: 122,596,221 (GRCm39) |
S550P |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,033,805 (GRCm39) |
L13P |
possibly damaging |
Het |
| Rps11 |
C |
T |
7: 44,772,614 (GRCm39) |
V66I |
probably benign |
Het |
| Slc22a18 |
T |
C |
7: 143,044,617 (GRCm39) |
V190A |
probably benign |
Het |
| Smad1 |
T |
C |
8: 80,098,899 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,965,556 (GRCm39) |
K327E |
possibly damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tom1l1 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
11: 90,540,648 (GRCm39) |
|
probably benign |
Het |
| Traj22 |
T |
C |
14: 54,434,729 (GRCm39) |
I8T |
|
Het |
| Txnl1 |
T |
C |
18: 63,812,446 (GRCm39) |
D116G |
probably benign |
Het |
| Ush1g |
A |
T |
11: 115,209,534 (GRCm39) |
L220Q |
probably damaging |
Het |
| Vmn2r10 |
C |
A |
5: 109,145,476 (GRCm39) |
E544* |
probably null |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,505 (GRCm39) |
V601A |
probably damaging |
Het |
| Zc3h13 |
C |
T |
14: 75,565,418 (GRCm39) |
R844W |
unknown |
Het |
| Zfpm1 |
A |
C |
8: 123,034,231 (GRCm39) |
D55A |
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 |
|
R2148:Ppfia4
|
UTSW |
1 |
134,240,372 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
|
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'- ACTGTGATCATCCAAAGAAGGG -3'
(R):5'- TCTGAGCAGGATGATCCAGG -3'
Sequencing Primer
(F):5'- TGTGATCATCCAAAGAAGGGAGCAG -3'
(R):5'- ATTGAGACCCGTGTGACCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation