Incidental Mutation 'R5228:Frmpd1'
ID 402720
Institutional Source Beutler Lab
Gene Symbol Frmpd1
Ensembl Gene ENSMUSG00000035615
Gene Name FERM and PDZ domain containing 1
Synonyms
MMRRC Submission 042801-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5228 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 45184875-45285936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45284322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1048 (S1048P)
Ref Sequence ENSEMBL: ENSMUSP00000103434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044773] [ENSMUST00000107804]
AlphaFold A2AKB4
Predicted Effect probably damaging
Transcript: ENSMUST00000044773
AA Change: S1048P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: S1048P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000107804
AA Change: S1048P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: S1048P

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,303,545 (GRCm39) probably null Het
Agrn G T 4: 156,251,403 (GRCm39) A1864D probably damaging Het
Ahnak2 A G 12: 112,741,820 (GRCm39) S751P probably benign Het
Aifm2 T C 10: 61,568,196 (GRCm39) V201A probably damaging Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Dnah7a T C 1: 53,476,768 (GRCm39) probably null Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp8 G T 5: 105,164,051 (GRCm39) Q416K probably benign Het
Gldn C T 9: 54,242,003 (GRCm39) T319I probably damaging Het
Gli2 T A 1: 118,763,936 (GRCm39) D1405V probably damaging Het
Gtsf2 A G 15: 103,353,042 (GRCm39) Y45H probably damaging Het
Hmcn1 C A 1: 150,522,452 (GRCm39) V3483F probably benign Het
Hspa12b T C 2: 130,984,884 (GRCm39) V385A possibly damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Inpp4b C G 8: 82,494,744 (GRCm39) P53R probably damaging Het
Ipo7 T A 7: 109,645,969 (GRCm39) C504S probably benign Het
Iws1 A G 18: 32,221,314 (GRCm39) D549G probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Klhl40 A G 9: 121,606,867 (GRCm39) E9G probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Morc2a T C 11: 3,635,439 (GRCm39) V810A probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
N4bp2 T C 5: 65,964,861 (GRCm39) V970A probably benign Het
Pira2 T A 7: 3,847,373 (GRCm39) K105N probably benign Het
Pml G A 9: 58,127,280 (GRCm39) R61C probably damaging Het
Pms2 T C 5: 143,860,415 (GRCm39) L76P probably damaging Het
Rlbp1 T G 7: 79,027,082 (GRCm39) T193P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGG 11: 3,103,384 (GRCm39) probably benign Homo
Sh3rf2 T C 18: 42,286,246 (GRCm39) S548P possibly damaging Het
Slc4a4 A G 5: 89,304,384 (GRCm39) D609G possibly damaging Het
Slk A T 19: 47,613,771 (GRCm39) I876F probably damaging Het
Tcf20 G A 15: 82,740,156 (GRCm39) P432S probably benign Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Topors G C 4: 40,262,367 (GRCm39) L306V probably damaging Het
Trappc9 A T 15: 72,929,844 (GRCm39) S171T probably damaging Het
Ube2m G T 7: 12,769,697 (GRCm39) probably benign Het
Vmn1r37 T C 6: 66,709,282 (GRCm39) *266Q probably null Het
Vmn2r34 T C 7: 7,675,340 (GRCm39) T683A probably damaging Het
Other mutations in Frmpd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGCTCAAGTCAGGCCTTTTC -3'
(R):5'- CTTCTGGAATAGGCTAGGGC -3'

Sequencing Primer
(F):5'- AAGTCAGGCCTTTTCCAATCG -3'
(R):5'- AGGGCCATTTCTGTGCATAAC -3'
Posted On 2016-07-22