Incidental Mutation 'R1573:Frmpd1'
ID |
170944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmpd1
|
Ensembl Gene |
ENSMUSG00000035615 |
Gene Name |
FERM and PDZ domain containing 1 |
Synonyms |
|
MMRRC Submission |
039612-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1573 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45283932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 918
(S918P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
AlphaFold |
A2AKB4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044773
AA Change: S918P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000047232 Gene: ENSMUSG00000035615 AA Change: S918P
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: S918P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000103434 Gene: ENSMUSG00000035615 AA Change: S918P
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 |
0.0677 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.1%
|
Validation Efficiency |
98% (90/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
C |
11: 46,004,445 (GRCm39) |
|
probably benign |
Het |
Add1 |
C |
G |
5: 34,758,740 (GRCm39) |
A18G |
possibly damaging |
Het |
Alk |
T |
C |
17: 72,910,113 (GRCm39) |
K198E |
possibly damaging |
Het |
Angptl1 |
T |
A |
1: 156,684,740 (GRCm39) |
L303Q |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,348,186 (GRCm39) |
I635L |
probably benign |
Het |
Atp5mk |
T |
A |
19: 47,074,634 (GRCm39) |
Q9L |
possibly damaging |
Het |
Atp8a2 |
G |
T |
14: 60,097,655 (GRCm39) |
T791K |
probably benign |
Het |
Auts2 |
T |
C |
5: 131,469,325 (GRCm39) |
K664R |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,967,685 (GRCm39) |
|
probably benign |
Het |
Cacna1i |
C |
A |
15: 80,277,869 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
T |
C |
5: 16,575,625 (GRCm39) |
F1077L |
probably damaging |
Het |
Camkk1 |
C |
T |
11: 72,918,307 (GRCm39) |
R52C |
probably damaging |
Het |
Camkmt |
T |
A |
17: 85,403,958 (GRCm39) |
V60E |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cbr2 |
A |
T |
11: 120,622,791 (GRCm39) |
L3Q |
possibly damaging |
Het |
Ccar1 |
A |
T |
10: 62,586,434 (GRCm39) |
D920E |
unknown |
Het |
Cdc20b |
A |
G |
13: 113,192,478 (GRCm39) |
N57S |
probably benign |
Het |
Cep83 |
G |
A |
10: 94,624,525 (GRCm39) |
E601K |
probably damaging |
Het |
Cldn10 |
A |
T |
14: 119,111,080 (GRCm39) |
I176L |
probably benign |
Het |
Cpeb2 |
T |
C |
5: 43,441,273 (GRCm39) |
|
probably benign |
Het |
Crb1 |
A |
G |
1: 139,265,344 (GRCm39) |
S25P |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,039,684 (GRCm39) |
Y319F |
probably damaging |
Het |
Dst |
C |
T |
1: 34,240,312 (GRCm39) |
S1561F |
probably damaging |
Het |
Dxo |
C |
T |
17: 35,057,270 (GRCm39) |
R221C |
probably damaging |
Het |
Dynlt4 |
A |
T |
4: 116,985,191 (GRCm39) |
T5S |
probably benign |
Het |
Epc2 |
A |
G |
2: 49,439,984 (GRCm39) |
T801A |
possibly damaging |
Het |
Fndc3a |
C |
A |
14: 72,806,384 (GRCm39) |
C373F |
probably damaging |
Het |
Fuca2 |
A |
G |
10: 13,381,587 (GRCm39) |
T84A |
possibly damaging |
Het |
Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
Gmeb1 |
A |
T |
4: 131,979,051 (GRCm39) |
N21K |
probably benign |
Het |
Htt |
T |
C |
5: 35,021,718 (GRCm39) |
|
probably benign |
Het |
Igsf1 |
T |
C |
X: 48,880,863 (GRCm39) |
R251G |
possibly damaging |
Het |
Itih4 |
A |
T |
14: 30,619,504 (GRCm39) |
H720L |
probably benign |
Het |
Kank4 |
A |
T |
4: 98,663,073 (GRCm39) |
L705* |
probably null |
Het |
Krt34 |
A |
T |
11: 99,931,854 (GRCm39) |
S122T |
probably benign |
Het |
L1td1 |
A |
G |
4: 98,625,517 (GRCm39) |
T571A |
probably benign |
Het |
Lag3 |
T |
C |
6: 124,886,210 (GRCm39) |
T248A |
possibly damaging |
Het |
Lgi1 |
T |
A |
19: 38,272,629 (GRCm39) |
H133Q |
probably benign |
Het |
Map1a |
A |
T |
2: 121,134,607 (GRCm39) |
T1808S |
probably benign |
Het |
Mcm9 |
T |
C |
10: 53,424,752 (GRCm39) |
T613A |
probably damaging |
Het |
Meaf6 |
A |
G |
4: 124,983,931 (GRCm39) |
I111V |
probably benign |
Het |
Mki67 |
G |
A |
7: 135,296,845 (GRCm39) |
P2730S |
possibly damaging |
Het |
Mlc1 |
A |
C |
15: 88,842,350 (GRCm39) |
C337G |
probably damaging |
Het |
Mrc2 |
T |
A |
11: 105,227,482 (GRCm39) |
Y572N |
probably damaging |
Het |
Mterf3 |
T |
C |
13: 67,070,967 (GRCm39) |
N172S |
possibly damaging |
Het |
Or3a1c |
T |
A |
11: 74,046,196 (GRCm39) |
M72K |
probably benign |
Het |
Or4b1 |
A |
T |
2: 89,979,068 (GRCm39) |
|
probably benign |
Het |
Or4c115 |
T |
A |
2: 88,928,064 (GRCm39) |
D69V |
probably damaging |
Het |
Or5ak4 |
A |
T |
2: 85,161,687 (GRCm39) |
L185H |
probably damaging |
Het |
Or6c6c |
T |
C |
10: 129,541,487 (GRCm39) |
S247P |
probably damaging |
Het |
Padi4 |
T |
G |
4: 140,484,881 (GRCm39) |
T327P |
possibly damaging |
Het |
Pga5 |
T |
A |
19: 10,651,201 (GRCm39) |
I151F |
probably benign |
Het |
Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
Prokr2 |
T |
A |
2: 132,215,684 (GRCm39) |
Q259L |
probably damaging |
Het |
Ptbp2 |
C |
A |
3: 119,546,754 (GRCm39) |
D43Y |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ralgps2 |
C |
T |
1: 156,660,500 (GRCm39) |
R237Q |
possibly damaging |
Het |
Rap1gds1 |
C |
A |
3: 138,671,624 (GRCm39) |
|
probably null |
Het |
Saa2 |
T |
A |
7: 46,401,716 (GRCm39) |
M1K |
probably null |
Het |
Samd9l |
T |
C |
6: 3,375,426 (GRCm39) |
I612V |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,442,692 (GRCm39) |
V1518I |
probably benign |
Het |
Serpina6 |
T |
C |
12: 103,618,012 (GRCm39) |
D267G |
probably damaging |
Het |
Sh2d4b |
A |
G |
14: 40,564,329 (GRCm39) |
|
probably null |
Het |
Sh3bp2 |
T |
C |
5: 34,718,034 (GRCm39) |
V505A |
probably benign |
Het |
Smad2 |
A |
G |
18: 76,395,657 (GRCm39) |
E32G |
possibly damaging |
Het |
Smn1 |
T |
G |
13: 100,263,118 (GRCm39) |
D32E |
probably damaging |
Het |
Spata31d1c |
T |
C |
13: 65,182,883 (GRCm39) |
S142P |
possibly damaging |
Het |
Stk39 |
A |
T |
2: 68,221,293 (GRCm39) |
I210N |
probably damaging |
Het |
Tcte2 |
A |
G |
17: 13,937,899 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
C |
A |
19: 40,597,361 (GRCm39) |
E230* |
probably null |
Het |
Tenm2 |
A |
T |
11: 35,937,896 (GRCm39) |
H1592Q |
probably damaging |
Het |
Tescl |
A |
G |
7: 24,032,668 (GRCm39) |
V219A |
probably damaging |
Het |
Tgm6 |
C |
T |
2: 129,993,660 (GRCm39) |
S633L |
probably benign |
Het |
Tmcc1 |
C |
T |
6: 116,110,924 (GRCm39) |
S123N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ulk2 |
G |
A |
11: 61,670,581 (GRCm39) |
R992C |
probably damaging |
Het |
Vwa5b1 |
G |
A |
4: 138,332,184 (GRCm39) |
H278Y |
probably damaging |
Het |
Wwp2 |
C |
T |
8: 108,275,121 (GRCm39) |
R373W |
probably damaging |
Het |
Zfp24 |
A |
T |
18: 24,150,399 (GRCm39) |
D170E |
possibly damaging |
Het |
Zfp808 |
T |
C |
13: 62,319,311 (GRCm39) |
I180T |
possibly damaging |
Het |
Zfp820 |
T |
A |
17: 22,037,737 (GRCm39) |
Q530H |
probably benign |
Het |
Zfp975 |
A |
T |
7: 42,311,507 (GRCm39) |
Y369N |
probably benign |
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 |
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 |
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'- TGCTACTATGACCGAGAGCCCTAC -3'
(R):5'- CGAATTCACTTCACATTCACCGCTG -3'
Sequencing Primer
(F):5'- GAGAGCCCTACCTGACCCTC -3'
(R):5'- TCACATTCACCGCTGGTAGG -3'
|
Posted On |
2014-04-13 |