Incidental Mutation 'IGL03292:Frmpd4'
| ID |
415929 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Frmpd4
|
| Ensembl Gene |
ENSMUSG00000049176 |
| Gene Name |
FERM and PDZ domain containing 4 |
| Synonyms |
LOC237234, PKAP1, Preso1, Pdzd10, Pdzk10, Preso |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
166254305-167360227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166260586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 1052
(I1052K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112145]
[ENSMUST00000112146]
[ENSMUST00000112147]
[ENSMUST00000112149]
|
| AlphaFold |
A2AFR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112145
AA Change: I1044K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107773
Gene: ENSMUSG00000049176
AA Change: I1044K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
77 |
147 |
1.38e-12 |
SMART |
|
B41
|
194 |
416 |
1.86e-49 |
SMART |
|
low complexity region
|
734 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
775 |
N/A |
INTRINSIC |
|
Blast:B41
|
794 |
864 |
9e-6 |
BLAST |
|
low complexity region
|
865 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
905 |
N/A |
INTRINSIC |
|
low complexity region
|
1210 |
1224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112146
AA Change: I1012K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107774
Gene: ENSMUSG00000049176
AA Change: I1012K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
45 |
115 |
1.38e-12 |
SMART |
|
B41
|
162 |
384 |
1.86e-49 |
SMART |
|
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
743 |
N/A |
INTRINSIC |
|
Blast:B41
|
762 |
832 |
1e-5 |
BLAST |
|
low complexity region
|
833 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
1178 |
1192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112147
AA Change: I1044K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107775
Gene: ENSMUSG00000049176
AA Change: I1044K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
77 |
147 |
1.38e-12 |
SMART |
|
B41
|
194 |
416 |
1.86e-49 |
SMART |
|
low complexity region
|
734 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
775 |
N/A |
INTRINSIC |
|
Blast:B41
|
794 |
864 |
9e-6 |
BLAST |
|
low complexity region
|
865 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
905 |
N/A |
INTRINSIC |
|
low complexity region
|
1210 |
1224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112149
AA Change: I1052K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107777
Gene: ENSMUSG00000049176
AA Change: I1052K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
85 |
155 |
1.38e-12 |
SMART |
|
B41
|
202 |
424 |
1.86e-49 |
SMART |
|
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
783 |
N/A |
INTRINSIC |
|
Blast:B41
|
802 |
872 |
1e-5 |
BLAST |
|
low complexity region
|
873 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
900 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
1218 |
1232 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased inflammation-induced pain and thermal pain in a chronic pain model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,765,827 (GRCm39) |
C713Y |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,856,803 (GRCm39) |
N205S |
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,257,180 (GRCm39) |
F1244V |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,801,749 (GRCm39) |
|
probably null |
Het |
| Chsy1 |
A |
C |
7: 65,775,120 (GRCm39) |
M150L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,632,989 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
T |
C |
1: 21,030,496 (GRCm39) |
I143T |
possibly damaging |
Het |
| Elf4 |
A |
C |
X: 47,503,583 (GRCm39) |
F642C |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,047,771 (GRCm39) |
D128G |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,855,350 (GRCm39) |
I1953N |
probably damaging |
Het |
| Ift52 |
T |
A |
2: 162,865,320 (GRCm39) |
I57N |
probably damaging |
Het |
| Lilrb4a |
G |
A |
10: 51,370,942 (GRCm39) |
|
probably null |
Het |
| Mob3a |
A |
T |
10: 80,526,920 (GRCm39) |
I135N |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,613,437 (GRCm39) |
I799N |
probably damaging |
Het |
| Rad52 |
T |
C |
6: 119,895,934 (GRCm39) |
L265P |
possibly damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,362,009 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,430,962 (GRCm39) |
M821K |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,384,107 (GRCm39) |
E720V |
probably benign |
Het |
| Tec |
T |
C |
5: 72,914,707 (GRCm39) |
E603G |
probably null |
Het |
| Timp1 |
A |
G |
X: 20,739,057 (GRCm39) |
T56A |
probably benign |
Het |
| Txnrd2 |
C |
A |
16: 18,296,479 (GRCm39) |
H511Q |
possibly damaging |
Het |
| Ubr4 |
A |
T |
4: 139,167,746 (GRCm39) |
D2743V |
probably damaging |
Het |
| Vmn1r211 |
C |
T |
13: 23,036,613 (GRCm39) |
G18D |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,476,840 (GRCm39) |
Q3127* |
probably null |
Het |
|
| Other mutations in Frmpd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02227:Frmpd4
|
APN |
X |
166,275,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02476:Frmpd4
|
APN |
X |
166,280,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03142:Frmpd4
|
APN |
X |
166,262,479 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4283001:Frmpd4
|
UTSW |
X |
166,512,030 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0647:Frmpd4
|
UTSW |
X |
166,272,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Frmpd4
|
UTSW |
X |
166,275,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Frmpd4
|
UTSW |
X |
166,260,243 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2869:Frmpd4
|
UTSW |
X |
166,260,243 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2871:Frmpd4
|
UTSW |
X |
166,260,243 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2871:Frmpd4
|
UTSW |
X |
166,260,243 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2872:Frmpd4
|
UTSW |
X |
166,260,243 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2872:Frmpd4
|
UTSW |
X |
166,260,243 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2874:Frmpd4
|
UTSW |
X |
166,260,243 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3729:Frmpd4
|
UTSW |
X |
166,269,803 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3731:Frmpd4
|
UTSW |
X |
166,269,803 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6943:Frmpd4
|
UTSW |
X |
166,387,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Frmpd4
|
UTSW |
X |
166,280,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation