Incidental Mutation 'R7719:Frmpd1'
ID |
595098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmpd1
|
Ensembl Gene |
ENSMUSG00000035615 |
Gene Name |
FERM and PDZ domain containing 1 |
Synonyms |
|
MMRRC Submission |
045776-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7719 (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 C
at 45284841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 1221
(C1221R)
|
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: C1221R
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000047232 Gene: ENSMUSG00000035615 AA Change: C1221R
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: C1221R
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103434 Gene: ENSMUSG00000035615 AA Change: C1221R
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 |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd6 |
T |
A |
1: 155,562,758 (GRCm39) |
L253H |
probably damaging |
Het |
Adam11 |
T |
C |
11: 102,663,303 (GRCm39) |
V238A |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,628,083 (GRCm39) |
H774L |
possibly damaging |
Het |
Anapc15 |
T |
C |
7: 101,550,236 (GRCm39) |
L150P |
unknown |
Het |
Ano8 |
G |
T |
8: 71,935,784 (GRCm39) |
T278K |
possibly damaging |
Het |
Atg16l2 |
T |
C |
7: 100,939,074 (GRCm39) |
K618E |
probably damaging |
Het |
Casz1 |
C |
T |
4: 149,028,981 (GRCm39) |
S1142L |
probably damaging |
Het |
Ccdc30 |
T |
A |
4: 119,190,813 (GRCm39) |
E471D |
probably damaging |
Het |
Cks1b |
T |
C |
3: 89,323,635 (GRCm39) |
N45D |
probably benign |
Het |
Clasrp |
T |
C |
7: 19,321,769 (GRCm39) |
T296A |
probably damaging |
Het |
Cluap1 |
C |
T |
16: 3,727,467 (GRCm39) |
|
probably null |
Het |
Cntn5 |
T |
A |
9: 9,704,903 (GRCm39) |
D632V |
probably damaging |
Het |
Cntnap3 |
G |
A |
13: 64,920,591 (GRCm39) |
Q593* |
probably null |
Het |
Col18a1 |
A |
T |
10: 76,913,846 (GRCm39) |
I457K |
probably benign |
Het |
Crybb3 |
G |
T |
5: 113,223,834 (GRCm39) |
Q192K |
probably damaging |
Het |
Cyb561d2 |
C |
T |
9: 107,417,383 (GRCm39) |
A123T |
probably benign |
Het |
Cyp2b13 |
C |
T |
7: 25,795,095 (GRCm39) |
A442V |
probably damaging |
Het |
Cyp2j9 |
G |
A |
4: 96,457,079 (GRCm39) |
T464I |
probably benign |
Het |
Cyp4a29 |
G |
A |
4: 115,108,137 (GRCm39) |
G320R |
possibly damaging |
Het |
Dbp |
T |
C |
7: 45,359,174 (GRCm39) |
I283T |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 105,002,674 (GRCm39) |
I303T |
probably benign |
Het |
Efcab8 |
T |
A |
2: 153,629,665 (GRCm39) |
V166D |
|
Het |
Efhc1 |
A |
T |
1: 21,049,744 (GRCm39) |
I535F |
probably benign |
Het |
Epb41l3 |
A |
G |
17: 69,560,409 (GRCm39) |
I319V |
possibly damaging |
Het |
Ewsr1 |
T |
C |
11: 5,035,900 (GRCm39) |
T193A |
unknown |
Het |
Fam227a |
T |
C |
15: 79,504,913 (GRCm39) |
N510S |
possibly damaging |
Het |
Gm6741 |
A |
C |
17: 91,544,472 (GRCm39) |
E78D |
probably benign |
Het |
Gpam |
C |
T |
19: 55,070,102 (GRCm39) |
V385I |
probably damaging |
Het |
Gpr55 |
A |
G |
1: 85,869,059 (GRCm39) |
V174A |
probably benign |
Het |
Gsdmc |
T |
C |
15: 63,650,813 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,441,080 (GRCm39) |
D5509V |
possibly damaging |
Het |
Hoxc13 |
A |
T |
15: 102,830,293 (GRCm39) |
Q224L |
possibly damaging |
Het |
Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
Igsf3 |
G |
A |
3: 101,342,857 (GRCm39) |
R478H |
probably damaging |
Het |
Itgb5 |
A |
G |
16: 33,740,486 (GRCm39) |
Q532R |
probably benign |
Het |
Jph1 |
T |
C |
1: 17,162,215 (GRCm39) |
Y149C |
probably damaging |
Het |
Lztfl1 |
T |
C |
9: 123,544,395 (GRCm39) |
D33G |
probably null |
Het |
Mex3c |
G |
T |
18: 73,723,061 (GRCm39) |
A385S |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,051,366 (GRCm39) |
S320T |
probably benign |
Het |
Nsun4 |
A |
T |
4: 115,909,617 (GRCm39) |
N314K |
possibly damaging |
Het |
Omg |
T |
A |
11: 79,393,059 (GRCm39) |
E266D |
probably benign |
Het |
Or4b12 |
A |
T |
2: 90,096,603 (GRCm39) |
M57K |
probably damaging |
Het |
Paqr9 |
T |
A |
9: 95,442,829 (GRCm39) |
V273E |
possibly damaging |
Het |
Phkg1 |
G |
A |
5: 129,902,699 (GRCm39) |
|
probably benign |
Het |
Plekhm3 |
T |
C |
1: 64,960,901 (GRCm39) |
K452E |
probably benign |
Het |
Plpbp |
T |
A |
8: 27,535,974 (GRCm39) |
I86N |
|
Het |
Prl2c1 |
G |
T |
13: 28,035,780 (GRCm39) |
A51S |
probably damaging |
Het |
Prmt8 |
A |
T |
6: 127,706,466 (GRCm39) |
H108Q |
probably damaging |
Het |
Prrc2b |
T |
A |
2: 32,107,280 (GRCm39) |
C1614* |
probably null |
Het |
Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
Rassf9 |
A |
G |
10: 102,381,461 (GRCm39) |
D281G |
probably benign |
Het |
Resf1 |
T |
C |
6: 149,228,853 (GRCm39) |
I633T |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,377,496 (GRCm39) |
D61G |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,745,229 (GRCm39) |
S2055P |
possibly damaging |
Het |
Six5 |
G |
A |
7: 18,830,803 (GRCm39) |
A477T |
probably damaging |
Het |
Speg |
A |
G |
1: 75,352,469 (GRCm39) |
E129G |
probably damaging |
Het |
Stard10 |
C |
T |
7: 100,995,320 (GRCm39) |
A78V |
not run |
Het |
Stard3 |
T |
C |
11: 98,266,502 (GRCm39) |
V127A |
probably benign |
Het |
Svep1 |
G |
A |
4: 58,068,523 (GRCm39) |
P3088S |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,440,489 (GRCm39) |
D508G |
probably damaging |
Het |
Tgm2 |
T |
A |
2: 157,985,038 (GRCm39) |
T23S |
probably damaging |
Het |
Ttll10 |
G |
T |
4: 156,131,665 (GRCm39) |
|
probably null |
Het |
Vcan |
A |
T |
13: 89,852,738 (GRCm39) |
S741T |
probably damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,319,618 (GRCm39) |
N454S |
probably benign |
Het |
Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
Wnt8a |
T |
C |
18: 34,680,588 (GRCm39) |
W318R |
probably damaging |
Het |
Zer1 |
A |
T |
2: 30,001,243 (GRCm39) |
L87H |
probably damaging |
Het |
Zfp518a |
T |
A |
19: 40,901,212 (GRCm39) |
N380K |
probably benign |
Het |
Zfp90 |
T |
C |
8: 107,145,725 (GRCm39) |
V19A |
probably damaging |
Het |
Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
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 |
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'- CATCTGACTCTGAAGGGGAAAAC -3'
(R):5'- TCGTTTATGCCAGCAAAACTG -3'
Sequencing Primer
(F):5'- ACAGAGAGGCCCAGGAAC -3'
(R):5'- CTGAGACTGGTGGAGCCTTC -3'
|
Posted On |
2019-11-12 |