Incidental Mutation 'R5560:Frmpd1'
ID 436504
Institutional Source Beutler Lab
Gene Symbol Frmpd1
Ensembl Gene ENSMUSG00000035615
Gene Name FERM and PDZ domain containing 1
Synonyms
MMRRC Submission 043117-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5560 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 45184875-45285936 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45243697 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 57 (T57S)
Ref Sequence ENSEMBL: ENSMUSP00000118757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044773] [ENSMUST00000107804] [ENSMUST00000134280]
AlphaFold A2AKB4
Predicted Effect possibly damaging
Transcript: ENSMUST00000044773
AA Change: T57S

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: T57S

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 possibly damaging
Transcript: ENSMUST00000107804
AA Change: T57S

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: T57S

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: ENSMUST00000134280
AA Change: T57S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118757
Gene: ENSMUSG00000035615
AA Change: T57S

DomainStartEndE-ValueType
PDZ 67 135 5.72e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134640
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adipor1 T C 1: 134,426,040 (GRCm38) W188R possibly damaging Het
Agrn T C 4: 156,178,497 (GRCm38) D441G probably damaging Het
Ankrd55 T C 13: 112,383,490 (GRCm38) S570P probably benign Het
Ano9 C G 7: 141,110,482 (GRCm38) G80R probably damaging Het
Arhgef2 T A 3: 88,634,437 (GRCm38) V250E probably damaging Het
Atp2b2 T C 6: 113,774,358 (GRCm38) D583G possibly damaging Het
Bcar3 T A 3: 122,426,575 (GRCm38) D40E possibly damaging Het
Capn12 A G 7: 28,882,860 (GRCm38) D133G probably benign Het
Ccna1 A T 3: 55,048,569 (GRCm38) Y269N probably damaging Het
Cct6b A T 11: 82,741,413 (GRCm38) Y250N probably damaging Het
Cep112 A C 11: 108,437,235 (GRCm38) K98Q probably damaging Het
Chst13 T C 6: 90,318,269 (GRCm38) D54G probably damaging Het
Clstn2 G T 9: 97,469,819 (GRCm38) H518N possibly damaging Het
Cntnap1 T A 11: 101,182,435 (GRCm38) L581M probably damaging Het
Cog3 T A 14: 75,729,393 (GRCm38) M446L probably damaging Het
Dennd2c T A 3: 103,161,555 (GRCm38) I756K probably damaging Het
Dennd3 T G 15: 73,532,895 (GRCm38) L273R probably damaging Het
Dhx34 C A 7: 16,218,541 (GRCm38) R53L probably benign Het
Dnah9 G A 11: 65,881,740 (GRCm38) T3722I probably benign Het
Dnajb12 GC G 10: 59,892,752 (GRCm38) probably null Het
Dusp6 A G 10: 99,266,241 (GRCm38) Y217C probably damaging Het
Dyrk1b G A 7: 28,184,253 (GRCm38) R178Q possibly damaging Het
Eif4g1 T A 16: 20,686,895 (GRCm38) C1009S probably benign Het
Gask1a T C 9: 121,978,223 (GRCm38) F478L possibly damaging Het
Gjc2 A G 11: 59,177,359 (GRCm38) V99A possibly damaging Het
Gm9955 A T 18: 24,709,092 (GRCm38) probably benign Het
Gpr158 A G 2: 21,826,290 (GRCm38) I734V possibly damaging Het
H1f2 A G 13: 23,739,407 (GRCm38) S187G probably benign Het
Herc1 A T 9: 66,451,119 (GRCm38) H2494L probably benign Het
Hjurp GT GTT 1: 88,266,524 (GRCm38) probably null Het
Hmgcs1 A G 13: 119,699,815 (GRCm38) probably null Het
Invs A T 4: 48,416,084 (GRCm38) T655S probably benign Het
Ipo9 G A 1: 135,402,245 (GRCm38) L486F probably damaging Het
Katnip T C 7: 125,854,561 (GRCm38) V1150A probably benign Het
Kcnj6 A T 16: 94,832,965 (GRCm38) L96M probably benign Het
Lfng A G 5: 140,614,267 (GRCm38) D354G possibly damaging Het
Lgsn T C 1: 31,196,872 (GRCm38) L139P probably damaging Het
Madd C A 2: 91,163,545 (GRCm38) V923L probably damaging Het
Mical1 A T 10: 41,478,965 (GRCm38) I157F probably damaging Het
Mis18bp1 T C 12: 65,152,816 (GRCm38) N154S possibly damaging Het
Mrps14 A G 1: 160,195,535 (GRCm38) K6R probably benign Het
Mug1 T A 6: 121,861,073 (GRCm38) C421S probably damaging Het
Myo18b A G 5: 112,868,295 (GRCm38) I696T probably damaging Het
Naf1 T C 8: 66,883,545 (GRCm38) Y375H probably damaging Het
Nsf T A 11: 103,863,255 (GRCm38) E485V possibly damaging Het
Nup188 A G 2: 30,309,885 (GRCm38) D307G probably damaging Het
Ocel1 C A 8: 71,372,478 (GRCm38) P108T probably damaging Het
Oip5 A G 2: 119,613,059 (GRCm38) S177P probably damaging Het
Omg A G 11: 79,501,758 (GRCm38) W425R possibly damaging Het
Or1ad8 A C 11: 51,007,523 (GRCm38) I184L possibly damaging Het
Or1l4 A G 2: 37,201,930 (GRCm38) I230V probably benign Het
Or5an10 G A 19: 12,298,644 (GRCm38) Q163* probably null Het
Or8g26 A C 9: 39,184,184 (GRCm38) E2A probably benign Het
Pikfyve A G 1: 65,253,407 (GRCm38) Y1339C probably damaging Het
Polr3e A G 7: 120,922,949 (GRCm38) D6G possibly damaging Het
Pou4f3 C A 18: 42,395,415 (GRCm38) P141Q probably benign Het
Rcsd1 T A 1: 165,655,501 (GRCm38) N337I possibly damaging Het
Rhoj C T 12: 75,391,712 (GRCm38) P91S probably damaging Het
Rnf10 A G 5: 115,249,998 (GRCm38) F367S probably damaging Het
Rnft1 A T 11: 86,493,196 (GRCm38) R307S probably benign Het
Ryr3 A T 2: 112,754,877 (GRCm38) F2788Y probably damaging Het
Scgb1c1 A G 7: 140,846,224 (GRCm38) K78E possibly damaging Het
Scn5a G T 9: 119,560,286 (GRCm38) A123E probably damaging Het
Setd2 T A 9: 110,549,839 (GRCm38) Y623* probably null Het
Slc49a3 A T 5: 108,448,863 (GRCm38) M1K probably null Het
Spmap2l A G 5: 77,016,486 (GRCm38) D112G possibly damaging Het
Tbl2 C T 5: 135,157,591 (GRCm38) Q216* probably null Het
Tnc A G 4: 64,008,709 (GRCm38) I860T probably damaging Het
Trafd1 T C 5: 121,373,303 (GRCm38) K484R possibly damaging Het
Trank1 T C 9: 111,390,567 (GRCm38) V2124A probably damaging Het
Trpm4 A T 7: 45,310,332 (GRCm38) W713R probably damaging Het
Uap1l1 T C 2: 25,362,676 (GRCm38) T451A probably benign Het
Uba6 A T 5: 86,131,260 (GRCm38) C668S probably damaging Het
Ubxn11 T C 4: 134,126,624 (GRCm38) F441S probably damaging Het
Vmn1r22 C T 6: 57,900,738 (GRCm38) V85M probably damaging Het
Vmn2r72 T A 7: 85,751,942 (GRCm38) I90L probably damaging Het
Wdr60 T C 12: 116,218,113 (GRCm38) S769G probably damaging Het
Zfp330 T C 8: 82,764,956 (GRCm38) E196G probably benign Het
Zfp746 A G 6: 48,082,174 (GRCm38) V167A possibly damaging Het
Zfp994 T C 17: 22,201,713 (GRCm38) E85G possibly damaging Het
Other mutations in Frmpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Frmpd1 APN 4 45,279,456 (GRCm38) missense possibly damaging 0.61
IGL01678:Frmpd1 APN 4 45,243,717 (GRCm38) missense probably damaging 1.00
IGL01815:Frmpd1 APN 4 45,284,239 (GRCm38) missense probably benign
IGL02305:Frmpd1 APN 4 45,249,209 (GRCm38) missense probably damaging 1.00
IGL02347:Frmpd1 APN 4 45,270,023 (GRCm38) splice site probably null
IGL02586:Frmpd1 APN 4 45,285,160 (GRCm38) missense probably damaging 1.00
IGL02704:Frmpd1 APN 4 45,285,082 (GRCm38) missense possibly damaging 0.83
IGL02942:Frmpd1 APN 4 45,285,493 (GRCm38) missense probably damaging 0.99
IGL03353:Frmpd1 APN 4 45,261,926 (GRCm38) missense probably damaging 1.00
IGL03355:Frmpd1 APN 4 45,279,140 (GRCm38) missense probably damaging 1.00
IGL03401:Frmpd1 APN 4 45,284,383 (GRCm38) missense probably benign 0.28
IGL03047:Frmpd1 UTSW 4 45,283,993 (GRCm38) missense probably damaging 1.00
R0094:Frmpd1 UTSW 4 45,284,899 (GRCm38) nonsense probably null
R0103:Frmpd1 UTSW 4 45,229,884 (GRCm38) missense probably damaging 0.99
R0103:Frmpd1 UTSW 4 45,229,884 (GRCm38) missense probably damaging 0.99
R0109:Frmpd1 UTSW 4 45,279,340 (GRCm38) missense probably benign 0.03
R0109:Frmpd1 UTSW 4 45,279,340 (GRCm38) missense probably benign 0.03
R0375:Frmpd1 UTSW 4 45,284,196 (GRCm38) missense probably benign 0.00
R0508:Frmpd1 UTSW 4 45,284,938 (GRCm38) missense unknown
R0524:Frmpd1 UTSW 4 45,283,774 (GRCm38) missense probably benign 0.00
R0524:Frmpd1 UTSW 4 45,256,902 (GRCm38) missense probably damaging 1.00
R0625:Frmpd1 UTSW 4 45,284,055 (GRCm38) missense probably benign
R0825:Frmpd1 UTSW 4 45,285,394 (GRCm38) missense possibly damaging 0.93
R0926:Frmpd1 UTSW 4 45,268,497 (GRCm38) missense probably damaging 1.00
R0975:Frmpd1 UTSW 4 45,279,000 (GRCm38) missense probably benign 0.01
R1465:Frmpd1 UTSW 4 45,273,197 (GRCm38) missense probably damaging 1.00
R1465:Frmpd1 UTSW 4 45,273,197 (GRCm38) missense probably damaging 1.00
R1573:Frmpd1 UTSW 4 45,283,932 (GRCm38) missense probably benign 0.01
R1938:Frmpd1 UTSW 4 45,283,711 (GRCm38) missense probably damaging 1.00
R2334:Frmpd1 UTSW 4 45,285,408 (GRCm38) missense probably damaging 0.97
R2413:Frmpd1 UTSW 4 45,278,969 (GRCm38) missense probably benign 0.02
R2760:Frmpd1 UTSW 4 45,244,667 (GRCm38) missense possibly damaging 0.77
R3856:Frmpd1 UTSW 4 45,283,698 (GRCm38) missense probably damaging 1.00
R3876:Frmpd1 UTSW 4 45,284,093 (GRCm38) missense probably benign 0.01
R4080:Frmpd1 UTSW 4 45,284,382 (GRCm38) missense probably benign
R4597:Frmpd1 UTSW 4 45,274,441 (GRCm38) missense probably benign 0.12
R4714:Frmpd1 UTSW 4 45,284,785 (GRCm38) missense probably benign 0.11
R4779:Frmpd1 UTSW 4 45,229,865 (GRCm38) missense probably damaging 1.00
R4957:Frmpd1 UTSW 4 45,273,099 (GRCm38) missense probably damaging 1.00
R5000:Frmpd1 UTSW 4 45,261,931 (GRCm38) splice site probably null
R5041:Frmpd1 UTSW 4 45,278,878 (GRCm38) missense probably damaging 1.00
R5228:Frmpd1 UTSW 4 45,284,322 (GRCm38) missense probably damaging 0.98
R5413:Frmpd1 UTSW 4 45,249,196 (GRCm38) missense probably benign 0.00
R6133:Frmpd1 UTSW 4 45,284,915 (GRCm38) missense probably benign 0.01
R6158:Frmpd1 UTSW 4 45,285,401 (GRCm38) missense probably damaging 1.00
R6329:Frmpd1 UTSW 4 45,268,551 (GRCm38) missense possibly damaging 0.80
R6338:Frmpd1 UTSW 4 45,274,489 (GRCm38) missense probably benign 0.00
R6544:Frmpd1 UTSW 4 45,279,024 (GRCm38) missense probably damaging 1.00
R6728:Frmpd1 UTSW 4 45,284,664 (GRCm38) missense probably benign
R6748:Frmpd1 UTSW 4 45,274,397 (GRCm38) missense probably benign 0.08
R6798:Frmpd1 UTSW 4 45,284,850 (GRCm38) missense probably benign 0.17
R6828:Frmpd1 UTSW 4 45,275,383 (GRCm38) missense probably damaging 0.99
R7002:Frmpd1 UTSW 4 45,284,200 (GRCm38) missense probably benign
R7258:Frmpd1 UTSW 4 45,269,974 (GRCm38) missense possibly damaging 0.79
R7295:Frmpd1 UTSW 4 45,285,700 (GRCm38) missense probably damaging 1.00
R7382:Frmpd1 UTSW 4 45,278,880 (GRCm38) missense probably benign 0.00
R7423:Frmpd1 UTSW 4 45,256,948 (GRCm38) missense probably damaging 1.00
R7451:Frmpd1 UTSW 4 45,279,558 (GRCm38) missense probably benign 0.11
R7492:Frmpd1 UTSW 4 45,285,237 (GRCm38) missense possibly damaging 0.71
R7524:Frmpd1 UTSW 4 45,271,181 (GRCm38) missense probably benign 0.16
R7610:Frmpd1 UTSW 4 45,279,098 (GRCm38) missense probably damaging 1.00
R7719:Frmpd1 UTSW 4 45,284,841 (GRCm38) missense possibly damaging 0.52
R7724:Frmpd1 UTSW 4 45,229,888 (GRCm38) missense probably damaging 1.00
R7891:Frmpd1 UTSW 4 45,284,478 (GRCm38) missense probably benign 0.06
R8010:Frmpd1 UTSW 4 45,284,272 (GRCm38) missense possibly damaging 0.51
R8260:Frmpd1 UTSW 4 45,244,638 (GRCm38) missense probably damaging 0.99
R8528:Frmpd1 UTSW 4 45,285,034 (GRCm38) missense probably benign
R8794:Frmpd1 UTSW 4 45,279,632 (GRCm38) missense probably benign 0.00
R8798:Frmpd1 UTSW 4 45,285,424 (GRCm38) missense possibly damaging 0.95
R8954:Frmpd1 UTSW 4 45,284,702 (GRCm38) missense probably benign 0.02
R9058:Frmpd1 UTSW 4 45,283,948 (GRCm38) missense probably damaging 1.00
R9178:Frmpd1 UTSW 4 45,285,367 (GRCm38) missense probably damaging 1.00
R9281:Frmpd1 UTSW 4 45,284,127 (GRCm38) missense probably benign 0.11
R9408:Frmpd1 UTSW 4 45,279,182 (GRCm38) missense probably benign 0.00
R9532:Frmpd1 UTSW 4 45,278,886 (GRCm38) missense
Z1088:Frmpd1 UTSW 4 45,284,080 (GRCm38) missense possibly damaging 0.93
Z1177:Frmpd1 UTSW 4 45,275,272 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGAGCCCAGCACTGAAAG -3'
(R):5'- TAGCTTCTCAGGTAGCACATTCTG -3'

Sequencing Primer
(F):5'- TGAAAGAAAAGGCTTCTCCTCAG -3'
(R):5'- GAGGCTAAGATCGTTTCC -3'
Posted On 2016-10-24