Incidental Mutation 'R7451:Frmpd1'
| ID |
577702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd1
|
| Ensembl Gene |
ENSMUSG00000035615 |
| Gene Name |
FERM and PDZ domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045525-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45279558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 761
(P761L)
|
| 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: P761L
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: P761L
| 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: P761L
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: P761L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (84/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,148,797 (GRCm39) |
I794T |
probably damaging |
Het |
| Abcc5 |
T |
A |
16: 20,193,820 (GRCm39) |
H767L |
probably damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,908,350 (GRCm39) |
M1031L |
probably damaging |
Het |
| Akna |
T |
A |
4: 63,296,904 (GRCm39) |
M891L |
probably benign |
Het |
| Aloxe3 |
C |
A |
11: 69,033,746 (GRCm39) |
T620K |
possibly damaging |
Het |
| Amph |
A |
G |
13: 19,261,538 (GRCm39) |
Y63C |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,930 (GRCm39) |
I259V |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,504,700 (GRCm39) |
W652* |
probably null |
Het |
| Atp8a2 |
C |
T |
14: 60,028,630 (GRCm39) |
D946N |
probably null |
Het |
| BC024063 |
T |
A |
10: 81,944,576 (GRCm39) |
N65K |
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,940,628 (GRCm39) |
M154L |
probably benign |
Het |
| Bltp1 |
G |
T |
3: 37,076,956 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
T |
6: 118,570,981 (GRCm39) |
V2181M |
unknown |
Het |
| Cacna1g |
A |
G |
11: 94,319,901 (GRCm39) |
I1425T |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,702,981 (GRCm39) |
|
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cfap97d1 |
A |
T |
11: 101,882,283 (GRCm39) |
N147I |
possibly damaging |
Het |
| Cfd |
T |
A |
10: 79,727,362 (GRCm39) |
V43E |
probably damaging |
Het |
| Chd9 |
GCCCC |
GCCC |
8: 91,760,418 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
A |
8: 91,760,446 (GRCm39) |
S2064T |
probably benign |
Het |
| Cpsf2 |
T |
G |
12: 101,967,051 (GRCm39) |
V646G |
possibly damaging |
Het |
| Ctif |
T |
C |
18: 75,652,874 (GRCm39) |
D461G |
possibly damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,636,550 (GRCm39) |
E414D |
probably benign |
Het |
| Dagla |
A |
G |
19: 10,230,719 (GRCm39) |
V544A |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,554,542 (GRCm39) |
V1228E |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,909,993 (GRCm39) |
L176* |
probably null |
Het |
| Fbxw26 |
T |
A |
9: 109,561,691 (GRCm39) |
I168L |
probably benign |
Het |
| Flt3 |
T |
A |
5: 147,286,477 (GRCm39) |
Y703F |
probably damaging |
Het |
| Gabrd |
A |
G |
4: 155,472,916 (GRCm39) |
V89A |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,881,804 (GRCm39) |
H98Q |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,900,876 (GRCm39) |
V1421A |
possibly damaging |
Het |
| Gprin2 |
A |
G |
14: 33,917,762 (GRCm39) |
S3P |
probably damaging |
Het |
| Ifi211 |
T |
G |
1: 173,727,058 (GRCm39) |
D362A |
probably damaging |
Het |
| Lars1 |
G |
T |
18: 42,335,615 (GRCm39) |
T1167K |
probably benign |
Het |
| Lce1b |
T |
C |
3: 92,563,207 (GRCm39) |
S109G |
unknown |
Het |
| Lrp2 |
T |
G |
2: 69,343,677 (GRCm39) |
E894A |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,454,473 (GRCm39) |
V1081A |
possibly damaging |
Het |
| Mcub |
T |
C |
3: 129,710,752 (GRCm39) |
S227G |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,301,080 (GRCm39) |
I1318T |
probably benign |
Het |
| Mybl2 |
C |
T |
2: 162,914,626 (GRCm39) |
T248I |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,804,832 (GRCm39) |
H1441L |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,202,577 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,091,466 (GRCm39) |
V5339I |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,558,722 (GRCm39) |
S88T |
probably damaging |
Het |
| Nup155 |
C |
T |
15: 8,175,091 (GRCm39) |
Q963* |
probably null |
Het |
| Oas1c |
A |
C |
5: 120,940,207 (GRCm39) |
L320V |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,610,884 (GRCm39) |
A286T |
probably benign |
Het |
| Or10d1b |
G |
A |
9: 39,613,423 (GRCm39) |
T214I |
probably damaging |
Het |
| Or1o11 |
C |
A |
17: 37,757,196 (GRCm39) |
S261R |
probably damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,516 (GRCm39) |
Y282C |
probably damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,453 (GRCm39) |
M81T |
probably benign |
Het |
| Or52b4i |
T |
C |
7: 102,191,461 (GRCm39) |
I106T |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,057 (GRCm39) |
S355G |
possibly damaging |
Het |
| Pde11a |
C |
T |
2: 75,853,117 (GRCm39) |
V834I |
possibly damaging |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,948 (GRCm39) |
D700V |
possibly damaging |
Het |
| Pif1 |
C |
A |
9: 65,495,630 (GRCm39) |
P180Q |
probably benign |
Het |
| Pkig |
G |
T |
2: 163,563,083 (GRCm39) |
E5* |
probably null |
Het |
| Pla2r1 |
T |
A |
2: 60,365,346 (GRCm39) |
M75L |
probably damaging |
Het |
| Pllp |
T |
C |
8: 95,402,871 (GRCm39) |
S157G |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,061,947 (GRCm39) |
H566Q |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,674,961 (GRCm39) |
D646G |
probably benign |
Het |
| Rab11fip5 |
T |
A |
6: 85,318,538 (GRCm39) |
T784S |
probably benign |
Het |
| Rad51ap2 |
T |
G |
12: 11,507,982 (GRCm39) |
S635A |
probably benign |
Het |
| Ranbp17 |
A |
T |
11: 33,234,114 (GRCm39) |
|
probably null |
Het |
| Rce1 |
C |
T |
19: 4,675,081 (GRCm39) |
G111D |
probably damaging |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rimbp2 |
C |
T |
5: 128,865,435 (GRCm39) |
V631I |
probably benign |
Het |
| Scai |
T |
C |
2: 39,015,148 (GRCm39) |
T94A |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,768 (GRCm39) |
A796T |
probably benign |
Het |
| Slc6a11 |
C |
A |
6: 114,222,644 (GRCm39) |
Y546* |
probably null |
Het |
| Slc7a2 |
T |
C |
8: 41,365,686 (GRCm39) |
S506P |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,080,066 (GRCm39) |
N1098K |
possibly damaging |
Het |
| Tmem177 |
G |
A |
1: 119,837,971 (GRCm39) |
A236V |
probably damaging |
Het |
| Togaram1 |
T |
A |
12: 65,043,749 (GRCm39) |
D1249E |
probably damaging |
Het |
| Trav17 |
A |
T |
14: 54,044,096 (GRCm39) |
M1L |
probably damaging |
Het |
| Trim25 |
C |
A |
11: 88,906,563 (GRCm39) |
A433D |
possibly damaging |
Het |
| Trim69 |
T |
C |
2: 121,998,508 (GRCm39) |
F160S |
probably benign |
Het |
| Trio |
A |
T |
15: 27,747,999 (GRCm39) |
V1407E |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,668,657 (GRCm39) |
M753K |
probably damaging |
Het |
| Ttc12 |
G |
T |
9: 49,383,179 (GRCm39) |
A75E |
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,143,013 (GRCm39) |
I165L |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,790,120 (GRCm39) |
L13Q |
unknown |
Het |
| Wwc2 |
G |
A |
8: 48,317,610 (GRCm39) |
R656W |
not run |
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 |
|
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'- TAGACCCCAGGCTGTATGAG -3'
(R):5'- TCCATGGACTCAAGAGTAGAGG -3'
Sequencing Primer
(F):5'- CCAGGCTGTATGAGGGCAG -3'
(R):5'- CTCAAGAGTAGAGGAGGCTGTCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation