Incidental Mutation 'R4957:Frmpd1'
ID 381634
Institutional Source Beutler Lab
Gene Symbol Frmpd1
Ensembl Gene ENSMUSG00000035615
Gene Name FERM and PDZ domain containing 1
Synonyms
MMRRC Submission 042554-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4957 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 45184875-45285936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 45273099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 339 (N339K)
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: N339K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: N339K

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: N339K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: N339K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
6820408C15Rik T A 2: 152,286,013 (GRCm39) V342D probably damaging Het
Arhgap33 C T 7: 30,231,786 (GRCm39) G101R probably damaging Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Cacnb4 T C 2: 52,448,303 (GRCm39) H8R probably damaging Het
Ccdc150 T A 1: 54,404,027 (GRCm39) probably benign Het
Cd74 A G 18: 60,942,109 (GRCm39) N113D probably benign Het
Cdc25b T C 2: 131,035,525 (GRCm39) V341A possibly damaging Het
Clptm1l T A 13: 73,759,315 (GRCm39) I245N possibly damaging Het
Clptm1l T C 13: 73,760,547 (GRCm39) I310T probably damaging Het
Creb5 A T 6: 53,670,907 (GRCm39) probably null Het
Crebbp T C 16: 3,935,231 (GRCm39) Q460R probably benign Het
Dnah17 A T 11: 117,965,124 (GRCm39) I2306N probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Elovl1 A T 4: 118,289,120 (GRCm39) H215L probably damaging Het
Enkd1 A G 8: 106,431,121 (GRCm39) I202T probably benign Het
Epha7 C T 4: 28,871,892 (GRCm39) A407V probably damaging Het
Ercc3 G T 18: 32,376,170 (GRCm39) G130W probably damaging Het
Fbxl8 A G 8: 105,994,827 (GRCm39) E113G probably damaging Het
Frrs1 G A 3: 116,678,897 (GRCm39) D240N probably benign Het
Gemin2 A G 12: 59,063,954 (GRCm39) S105G probably benign Het
Glra1 T A 11: 55,418,224 (GRCm39) I257F probably damaging Het
Gmcl1 G A 6: 86,687,503 (GRCm39) P354S probably damaging Het
Gpr15 G T 16: 58,538,537 (GRCm39) A184E probably damaging Het
Grm7 G A 6: 111,335,824 (GRCm39) G745E probably damaging Het
H2-T10 T A 17: 36,428,308 (GRCm39) probably benign Het
Hdac5 C A 11: 102,096,082 (GRCm39) probably benign Het
Ift22 G A 5: 136,937,070 (GRCm39) probably benign Het
Ighg3 T C 12: 113,324,750 (GRCm39) E34G unknown Het
Itga11 A T 9: 62,674,930 (GRCm39) T821S probably benign Het
Lmod2 T C 6: 24,603,871 (GRCm39) V282A possibly damaging Het
Maml2 A G 9: 13,531,572 (GRCm39) K262R probably damaging Het
Mme T A 3: 63,250,910 (GRCm39) probably benign Het
Mnat1 A G 12: 73,170,652 (GRCm39) Y14C probably damaging Het
Mtdh A T 15: 34,083,281 (GRCm39) T34S possibly damaging Het
Ncaph T C 2: 126,963,177 (GRCm39) D352G possibly damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4f17-ps1 C A 2: 111,358,569 (GRCm39) N321K probably benign Het
Or5m9b T A 2: 85,905,854 (GRCm39) Y257N probably damaging Het
Or9g8 T C 2: 85,607,459 (GRCm39) F177S probably damaging Het
Pcdhb13 T A 18: 37,577,837 (GRCm39) D738E possibly damaging Het
Pla2g4f C T 2: 120,130,980 (GRCm39) R825Q probably benign Het
Pnliprp2 C T 19: 58,763,577 (GRCm39) L409F possibly damaging Het
Prlr G T 15: 10,319,281 (GRCm39) C70F probably damaging Het
Ptpn14 C T 1: 189,583,469 (GRCm39) T772I probably benign Het
Ryr2 T C 13: 11,799,966 (GRCm39) Q927R probably damaging Het
Scarf1 A G 11: 75,416,460 (GRCm39) E634G probably benign Het
Scart1 T C 7: 139,808,435 (GRCm39) V782A probably damaging Het
Skic3 T G 13: 76,333,232 (GRCm39) probably null Het
Slc39a14 A T 14: 70,553,260 (GRCm39) S158R probably damaging Het
Slc9c1 A T 16: 45,365,194 (GRCm39) T176S probably benign Het
Srsf10 T C 4: 135,583,541 (GRCm39) S2P probably damaging Het
Tcam1 T A 11: 106,173,705 (GRCm39) C50S probably damaging Het
Tcf7l2 A G 19: 55,919,864 (GRCm39) probably null Het
Tdrd3 T A 14: 87,743,223 (GRCm39) H390Q probably benign Het
Tlk2 T C 11: 105,144,185 (GRCm39) probably null Het
Tnc G C 4: 63,894,793 (GRCm39) P1531R probably damaging Het
Tnfrsf1b C A 4: 144,973,327 (GRCm39) Q15H probably damaging Het
Tnfrsf1b T G 4: 144,973,328 (GRCm39) Q15P possibly damaging Het
Tssk4 A T 14: 55,889,266 (GRCm39) E264V probably damaging Het
Ugt3a1 G A 15: 9,365,274 (GRCm39) V296I probably benign Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r8 T G 5: 108,947,129 (GRCm39) E541A probably benign Het
Ybx1 A T 4: 119,136,135 (GRCm39) probably benign Het
Zfp39 T A 11: 58,782,057 (GRCm39) Y235F possibly damaging Het
Zfp422 T A 6: 116,603,904 (GRCm39) K32* probably null Het
Zpbp2 T A 11: 98,442,150 (GRCm39) probably null 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
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'- TCTACAGGGGCCAAACCTACTC -3'
(R):5'- TGGTGAAAATGATTCCCTCCCC -3'

Sequencing Primer
(F):5'- AACATCACAGACATCCCTTCTCTTTC -3'
(R):5'- CCCCACCTCCCCAAGATTTTTC -3'
Posted On 2016-04-27