Incidental Mutation 'R7382:Frmpd1'
| ID |
572781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd1
|
| Ensembl Gene |
ENSMUSG00000035615 |
| Gene Name |
FERM and PDZ domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45278880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 535
(V535E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
| AlphaFold |
A2AKB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044773
AA Change: V535E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: V535E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
|
B41
|
177 |
401 |
4.85e-30 |
SMART |
|
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
597 |
N/A |
INTRINSIC |
|
PDB:4G2V|B
|
901 |
938 |
2e-15 |
PDB |
|
low complexity region
|
962 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1130 |
N/A |
INTRINSIC |
|
Blast:B41
|
1264 |
1488 |
3e-44 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107804
AA Change: V535E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: V535E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
|
B41
|
177 |
401 |
4.85e-30 |
SMART |
|
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
597 |
N/A |
INTRINSIC |
|
PDB:4G2V|B
|
901 |
938 |
2e-15 |
PDB |
|
low complexity region
|
962 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1130 |
N/A |
INTRINSIC |
|
Blast:B41
|
1264 |
1488 |
3e-44 |
BLAST |
|
| Meta Mutation Damage Score |
0.1007 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,103 (GRCm39) |
H404Q |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,651,037 (GRCm39) |
M53K |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,570,020 (GRCm39) |
T82S |
possibly damaging |
Het |
| Adgrl2 |
T |
G |
3: 148,522,919 (GRCm39) |
Q435P |
|
Het |
| Ahr |
A |
T |
12: 35,554,514 (GRCm39) |
M535K |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,954 (GRCm39) |
I2123V |
probably benign |
Het |
| Ankrd2 |
G |
T |
19: 42,033,411 (GRCm39) |
G318C |
|
Het |
| Ap4e1 |
T |
A |
2: 126,850,822 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
G |
A |
14: 59,892,043 (GRCm39) |
P1102S |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,216,048 (GRCm39) |
S105F |
probably damaging |
Het |
| Cad |
C |
A |
5: 31,233,173 (GRCm39) |
P1872T |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,904,269 (GRCm39) |
F251L |
probably benign |
Het |
| Ccdc18 |
C |
A |
5: 108,286,873 (GRCm39) |
Q136K |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,288,271 (GRCm39) |
|
probably null |
Het |
| Cd209d |
A |
T |
8: 3,927,965 (GRCm39) |
Y46* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,208,262 (GRCm39) |
M728K |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,944 (GRCm39) |
D866G |
probably damaging |
Het |
| Cenpl |
A |
G |
1: 160,906,031 (GRCm39) |
H135R |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,681,451 (GRCm39) |
L63* |
probably null |
Het |
| Cpeb4 |
A |
G |
11: 31,822,828 (GRCm39) |
T181A |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,094,169 (GRCm39) |
E830G |
probably damaging |
Het |
| Endou |
T |
A |
15: 97,616,807 (GRCm39) |
K239* |
probably null |
Het |
| Ezh2 |
T |
C |
6: 47,528,770 (GRCm39) |
N263S |
possibly damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,697,314 (GRCm39) |
D351G |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,862,669 (GRCm39) |
Y1720* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,491,229 (GRCm39) |
|
probably null |
Het |
| Fxr2 |
T |
C |
11: 69,532,382 (GRCm39) |
V139A |
probably benign |
Het |
| Gpr180 |
T |
G |
14: 118,400,035 (GRCm39) |
V401G |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,110,936 (GRCm39) |
R971S |
possibly damaging |
Het |
| Igkv8-34 |
C |
A |
6: 70,021,103 (GRCm39) |
A120S |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,645,370 (GRCm39) |
H219Q |
probably benign |
Het |
| Itprid1 |
G |
T |
6: 55,955,404 (GRCm39) |
G1004V |
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,962,526 (GRCm39) |
|
probably null |
Het |
| Mael |
G |
A |
1: 166,029,167 (GRCm39) |
P419S |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,121,266 (GRCm39) |
T102A |
probably damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,845,916 (GRCm39) |
I119N |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,685 (GRCm39) |
V1877A |
unknown |
Het |
| Myo5c |
A |
C |
9: 75,211,332 (GRCm39) |
S1733R |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,176 (GRCm39) |
V248A |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,334,763 (GRCm39) |
I663N |
probably damaging |
Het |
| Olig3 |
T |
A |
10: 19,232,413 (GRCm39) |
S13T |
unknown |
Het |
| Or1j17 |
G |
T |
2: 36,578,046 (GRCm39) |
E11* |
probably null |
Het |
| Or8k39 |
T |
C |
2: 86,563,129 (GRCm39) |
I276V |
probably benign |
Het |
| Piezo2 |
A |
C |
18: 63,150,590 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
T |
8: 117,781,610 (GRCm39) |
L812M |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,759 (GRCm39) |
T387I |
probably damaging |
Het |
| Ppara |
C |
T |
15: 85,671,429 (GRCm39) |
S110L |
probably damaging |
Het |
| Ranbp9 |
C |
T |
13: 43,578,590 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rufy2 |
G |
T |
10: 62,833,748 (GRCm39) |
R270L |
probably benign |
Het |
| Septin12 |
C |
T |
16: 4,806,346 (GRCm39) |
E272K |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,182 (GRCm39) |
E128G |
possibly damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,007,093 (GRCm39) |
S21N |
probably benign |
Het |
| Sil1 |
A |
T |
18: 35,458,466 (GRCm39) |
D176E |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,295,621 (GRCm39) |
Y82N |
probably damaging |
Het |
| Slc41a1 |
C |
T |
1: 131,774,370 (GRCm39) |
P479L |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,570,229 (GRCm39) |
K744R |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,688,180 (GRCm39) |
D495G |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,695,494 (GRCm39) |
S156P |
probably benign |
Het |
| Syt3 |
A |
T |
7: 44,042,170 (GRCm39) |
D343V |
probably damaging |
Het |
| Tbl3 |
G |
T |
17: 24,924,265 (GRCm39) |
T164N |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,977,326 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
A |
19: 55,915,172 (GRCm39) |
W461R |
unknown |
Het |
| Tmprss11c |
A |
T |
5: 86,379,723 (GRCm39) |
F395Y |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,932,280 (GRCm39) |
Y711* |
probably null |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,612,374 (GRCm39) |
K1216E |
probably damaging |
Het |
| Ube2q2 |
A |
C |
9: 55,070,298 (GRCm39) |
D80A |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,389,379 (GRCm39) |
K227* |
probably null |
Het |
| Uhrf2 |
T |
C |
19: 30,048,788 (GRCm39) |
Y265H |
possibly damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,756 (GRCm39) |
Y247S |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,174,276 (GRCm39) |
C525R |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,596,849 (GRCm39) |
T3090A |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,336,573 (GRCm39) |
K674R |
probably benign |
Het |
| Zfp202 |
G |
T |
9: 40,122,801 (GRCm39) |
R521I |
probably damaging |
Het |
| Zfp433 |
T |
C |
10: 81,556,659 (GRCm39) |
V387A |
probably benign |
Het |
| Zpld1 |
T |
C |
16: 55,067,046 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Frmpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Frmpd1
|
APN |
4 |
45,279,456 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01678:Frmpd1
|
APN |
4 |
45,243,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01815:Frmpd1
|
APN |
4 |
45,284,239 (GRCm39) |
missense |
probably benign |
|
|
IGL02305:Frmpd1
|
APN |
4 |
45,249,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02347:Frmpd1
|
APN |
4 |
45,270,023 (GRCm39) |
splice site |
probably null |
|
|
IGL02586:Frmpd1
|
APN |
4 |
45,285,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Frmpd1
|
APN |
4 |
45,285,082 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02942:Frmpd1
|
APN |
4 |
45,285,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03353:Frmpd1
|
APN |
4 |
45,261,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Frmpd1
|
APN |
4 |
45,279,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Frmpd1
|
APN |
4 |
45,284,383 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03047:Frmpd1
|
UTSW |
4 |
45,283,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Frmpd1
|
UTSW |
4 |
45,284,899 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0375:Frmpd1
|
UTSW |
4 |
45,284,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0508:Frmpd1
|
UTSW |
4 |
45,284,938 (GRCm39) |
missense |
unknown |
|
|
R0524:Frmpd1
|
UTSW |
4 |
45,283,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0524:Frmpd1
|
UTSW |
4 |
45,256,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Frmpd1
|
UTSW |
4 |
45,284,055 (GRCm39) |
missense |
probably benign |
|
|
R0825:Frmpd1
|
UTSW |
4 |
45,285,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0926:Frmpd1
|
UTSW |
4 |
45,268,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Frmpd1
|
UTSW |
4 |
45,279,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Frmpd1
|
UTSW |
4 |
45,283,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1938:Frmpd1
|
UTSW |
4 |
45,283,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2334:Frmpd1
|
UTSW |
4 |
45,285,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2413:Frmpd1
|
UTSW |
4 |
45,278,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2760:Frmpd1
|
UTSW |
4 |
45,244,667 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3856:Frmpd1
|
UTSW |
4 |
45,283,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Frmpd1
|
UTSW |
4 |
45,284,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4080:Frmpd1
|
UTSW |
4 |
45,284,382 (GRCm39) |
missense |
probably benign |
|
|
R4597:Frmpd1
|
UTSW |
4 |
45,274,441 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4714:Frmpd1
|
UTSW |
4 |
45,284,785 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4779:Frmpd1
|
UTSW |
4 |
45,229,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Frmpd1
|
UTSW |
4 |
45,273,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Frmpd1
|
UTSW |
4 |
45,261,931 (GRCm39) |
splice site |
probably null |
|
|
R5041:Frmpd1
|
UTSW |
4 |
45,278,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5228:Frmpd1
|
UTSW |
4 |
45,284,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5413:Frmpd1
|
UTSW |
4 |
45,249,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Frmpd1
|
UTSW |
4 |
45,243,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Frmpd1
|
UTSW |
4 |
45,284,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6158:Frmpd1
|
UTSW |
4 |
45,285,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Frmpd1
|
UTSW |
4 |
45,268,551 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6338:Frmpd1
|
UTSW |
4 |
45,274,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6544:Frmpd1
|
UTSW |
4 |
45,279,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Frmpd1
|
UTSW |
4 |
45,284,664 (GRCm39) |
missense |
probably benign |
|
|
R6748:Frmpd1
|
UTSW |
4 |
45,274,397 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6798:Frmpd1
|
UTSW |
4 |
45,284,850 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6828:Frmpd1
|
UTSW |
4 |
45,275,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7002:Frmpd1
|
UTSW |
4 |
45,284,200 (GRCm39) |
missense |
probably benign |
|
|
R7258:Frmpd1
|
UTSW |
4 |
45,269,974 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7295:Frmpd1
|
UTSW |
4 |
45,285,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Frmpd1
|
UTSW |
4 |
45,256,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Frmpd1
|
UTSW |
4 |
45,279,558 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7492:Frmpd1
|
UTSW |
4 |
45,285,237 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7524:Frmpd1
|
UTSW |
4 |
45,271,181 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7610:Frmpd1
|
UTSW |
4 |
45,279,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Frmpd1
|
UTSW |
4 |
45,284,841 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7724:Frmpd1
|
UTSW |
4 |
45,229,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7891:Frmpd1
|
UTSW |
4 |
45,284,478 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8010:Frmpd1
|
UTSW |
4 |
45,284,272 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8260:Frmpd1
|
UTSW |
4 |
45,244,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8528:Frmpd1
|
UTSW |
4 |
45,285,034 (GRCm39) |
missense |
probably benign |
|
|
R8794:Frmpd1
|
UTSW |
4 |
45,279,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8798:Frmpd1
|
UTSW |
4 |
45,285,424 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8954:Frmpd1
|
UTSW |
4 |
45,284,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9058:Frmpd1
|
UTSW |
4 |
45,283,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Frmpd1
|
UTSW |
4 |
45,285,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Frmpd1
|
UTSW |
4 |
45,284,127 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9408:Frmpd1
|
UTSW |
4 |
45,279,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9532:Frmpd1
|
UTSW |
4 |
45,278,886 (GRCm39) |
missense |
|
|
|
Z1088:Frmpd1
|
UTSW |
4 |
45,284,080 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Frmpd1
|
UTSW |
4 |
45,275,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAACCTAGTATGACTCAGGTC -3'
(R):5'- AGCACGCATCTAAGTCGTCC -3'
Sequencing Primer
(F):5'- GACTCAGGTCAGTCGCTTTCTG -3'
(R):5'- AAGTCGTCCTCTTCCAGGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation