Incidental Mutation 'R7492:Frmpd1'
| ID |
580825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd1
|
| Ensembl Gene |
ENSMUSG00000035615 |
| Gene Name |
FERM and PDZ domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045566-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7492 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45285237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1353
(R1353G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
| AlphaFold |
A2AKB4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044773
AA Change: R1353G
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: R1353G
| 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 |
possibly damaging
Transcript: ENSMUST00000107804
AA Change: R1353G
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: R1353G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,948,560 (GRCm39) |
D819G |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,243,167 (GRCm39) |
I1677L |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,998,673 (GRCm39) |
S367G |
probably benign |
Het |
| Afdn |
G |
C |
17: 14,068,638 (GRCm39) |
|
probably null |
Het |
| Aldh6a1 |
A |
G |
12: 84,483,640 (GRCm39) |
L302P |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,718,357 (GRCm39) |
D536G |
unknown |
Het |
| Ankrd17 |
A |
G |
5: 90,381,807 (GRCm39) |
V2454A |
possibly damaging |
Het |
| Apol7e |
G |
A |
15: 77,601,656 (GRCm39) |
E85K |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,657 (GRCm39) |
D439G |
probably damaging |
Het |
| AU040320 |
G |
T |
4: 126,741,648 (GRCm39) |
C952F |
possibly damaging |
Het |
| Btbd8 |
G |
A |
5: 107,658,373 (GRCm39) |
E1648K |
probably benign |
Het |
| C6 |
A |
G |
15: 4,761,196 (GRCm39) |
S19G |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,930,009 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
A |
C |
15: 92,212,423 (GRCm39) |
T862P |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,859,812 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,650 (GRCm39) |
K964E |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,819,846 (GRCm39) |
Y145C |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,240,737 (GRCm39) |
C196Y |
possibly damaging |
Het |
| Efcab11 |
A |
C |
12: 99,844,660 (GRCm39) |
I58R |
possibly damaging |
Het |
| Fam81b |
T |
A |
13: 76,419,398 (GRCm39) |
I51F |
probably benign |
Het |
| Fbln1 |
G |
A |
15: 85,111,262 (GRCm39) |
V139M |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,493,598 (GRCm39) |
|
probably null |
Het |
| Fech |
C |
T |
18: 64,600,842 (GRCm39) |
W220* |
probably null |
Het |
| Fgl1 |
C |
T |
8: 41,644,624 (GRCm39) |
W293* |
probably null |
Het |
| Firrm |
A |
G |
1: 163,786,897 (GRCm39) |
I724T |
probably benign |
Het |
| Foxi2 |
T |
C |
7: 135,012,301 (GRCm39) |
L63P |
probably damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Galnt5 |
T |
A |
2: 57,916,048 (GRCm39) |
|
probably null |
Het |
| Glb1 |
A |
T |
9: 114,303,017 (GRCm39) |
I618F |
probably damaging |
Het |
| Hs2st1 |
A |
T |
3: 144,141,357 (GRCm39) |
M237K |
probably benign |
Het |
| Ighm |
T |
C |
12: 113,386,293 (GRCm39) |
D19G |
|
Het |
| Il1f10 |
A |
G |
2: 24,182,829 (GRCm39) |
D35G |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,292,436 (GRCm39) |
T419I |
probably damaging |
Het |
| Khdc1a |
A |
T |
1: 21,420,542 (GRCm39) |
E54V |
possibly damaging |
Het |
| Kif19a |
A |
G |
11: 114,681,065 (GRCm39) |
D991G |
probably benign |
Het |
| Klhl18 |
A |
C |
9: 110,257,843 (GRCm39) |
Y532* |
probably null |
Het |
| Lama1 |
T |
C |
17: 68,124,646 (GRCm39) |
F2902S |
|
Het |
| Lrba |
T |
C |
3: 86,571,835 (GRCm39) |
S2380P |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,367,925 (GRCm39) |
I196F |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,369,524 (GRCm39) |
K1746E |
possibly damaging |
Het |
| Megf10 |
T |
C |
18: 57,424,866 (GRCm39) |
Y1002H |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,053,273 (GRCm39) |
T1815A |
probably benign |
Het |
| Mtg1 |
T |
C |
7: 139,724,610 (GRCm39) |
L162P |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,195,328 (GRCm39) |
Y899* |
probably null |
Het |
| Nlrp9a |
A |
T |
7: 26,257,081 (GRCm39) |
D233V |
probably damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,571 (GRCm39) |
Q9L |
possibly damaging |
Het |
| Or2z2 |
T |
A |
11: 58,346,715 (GRCm39) |
N20I |
probably benign |
Het |
| Or4k45 |
C |
A |
2: 111,395,166 (GRCm39) |
V208L |
probably benign |
Het |
| Or6c201 |
T |
A |
10: 128,969,509 (GRCm39) |
I43F |
probably damaging |
Het |
| Or8k36-ps1 |
T |
A |
2: 86,437,063 (GRCm39) |
N284I |
unknown |
Het |
| Parvb |
A |
T |
15: 84,174,651 (GRCm39) |
Q148L |
probably damaging |
Het |
| Pcdhb11 |
C |
T |
18: 37,556,497 (GRCm39) |
T609M |
probably damaging |
Het |
| Pcdhga3 |
A |
T |
18: 37,809,178 (GRCm39) |
T544S |
probably benign |
Het |
| Pkd1 |
C |
G |
17: 24,788,715 (GRCm39) |
I824M |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,794,849 (GRCm39) |
L370Q |
probably damaging |
Het |
| Plcb1 |
G |
T |
2: 135,093,684 (GRCm39) |
E166* |
probably null |
Het |
| Pnpt1 |
A |
G |
11: 29,085,522 (GRCm39) |
I138V |
probably benign |
Het |
| Pou4f3 |
T |
C |
18: 42,528,996 (GRCm39) |
L313P |
probably damaging |
Het |
| Pramel21 |
C |
A |
4: 143,342,744 (GRCm39) |
Q284K |
not run |
Het |
| Prep |
A |
G |
10: 44,996,910 (GRCm39) |
Y396C |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,269,974 (GRCm39) |
C562* |
probably null |
Het |
| Prss12 |
T |
A |
3: 123,276,425 (GRCm39) |
C351* |
probably null |
Het |
| Rnf41 |
C |
A |
10: 128,274,283 (GRCm39) |
H312N |
probably damaging |
Het |
| Ror1 |
C |
T |
4: 100,298,256 (GRCm39) |
T543I |
probably benign |
Het |
| Rreb1 |
G |
A |
13: 38,115,724 (GRCm39) |
V1028I |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,423,700 (GRCm39) |
S474T |
|
Het |
| Slc1a2 |
T |
A |
2: 102,570,275 (GRCm39) |
C184* |
probably null |
Het |
| Slc2a4 |
G |
A |
11: 69,837,202 (GRCm39) |
T78I |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,277,509 (GRCm39) |
I317N |
possibly damaging |
Het |
| Smad9 |
G |
A |
3: 54,693,747 (GRCm39) |
|
probably null |
Het |
| Sst |
T |
C |
16: 23,708,576 (GRCm39) |
E85G |
probably damaging |
Het |
| Sting1 |
T |
C |
18: 35,871,766 (GRCm39) |
Y162C |
probably damaging |
Het |
| Svep1 |
T |
G |
4: 58,066,468 (GRCm39) |
E3205D |
possibly damaging |
Het |
| Tmc7 |
G |
T |
7: 118,141,189 (GRCm39) |
S647R |
probably benign |
Het |
| Trnt1 |
T |
C |
6: 106,751,493 (GRCm39) |
S157P |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,719,922 (GRCm39) |
H831L |
probably benign |
Het |
| Vmn1r121 |
A |
G |
7: 20,832,095 (GRCm39) |
F115S |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,238,020 (GRCm39) |
D207G |
possibly damaging |
Het |
| Vwde |
C |
A |
6: 13,204,980 (GRCm39) |
K300N |
probably null |
Het |
| Zfp418 |
A |
G |
7: 7,184,396 (GRCm39) |
T120A |
possibly damaging |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably damaging |
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 |
|
R7382:Frmpd1
|
UTSW |
4 |
45,278,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CTGGCATAAACGAAGTGGC -3'
(R):5'- TCTGTGAGCCCATGCATAGC -3'
Sequencing Primer
(F):5'- CATAAACGAAGTGGCGCCCG -3'
(R):5'- GCTCCGGCTTTCTGAAAAATG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation