Incidental Mutation 'R1573:Frmpd1'
ID 170944
Institutional Source Beutler Lab
Gene Symbol Frmpd1
Ensembl Gene ENSMUSG00000035615
Gene Name FERM and PDZ domain containing 1
Synonyms
MMRRC Submission 039612-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1573 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 45184875-45285936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45283932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 918 (S918P)
Ref Sequence ENSEMBL: ENSMUSP00000103434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044773] [ENSMUST00000107804]
AlphaFold A2AKB4
Predicted Effect probably benign
Transcript: ENSMUST00000044773
AA Change: S918P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: S918P

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 benign
Transcript: ENSMUST00000107804
AA Change: S918P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: S918P

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 0.0677 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.1%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,004,445 (GRCm39) probably benign Het
Add1 C G 5: 34,758,740 (GRCm39) A18G possibly damaging Het
Alk T C 17: 72,910,113 (GRCm39) K198E possibly damaging Het
Angptl1 T A 1: 156,684,740 (GRCm39) L303Q possibly damaging Het
Aox1 A T 1: 58,348,186 (GRCm39) I635L probably benign Het
Atp5mk T A 19: 47,074,634 (GRCm39) Q9L possibly damaging Het
Atp8a2 G T 14: 60,097,655 (GRCm39) T791K probably benign Het
Auts2 T C 5: 131,469,325 (GRCm39) K664R probably damaging Het
Birc6 T A 17: 74,967,685 (GRCm39) probably benign Het
Cacna1i C A 15: 80,277,869 (GRCm39) probably null Het
Cacna2d1 T C 5: 16,575,625 (GRCm39) F1077L probably damaging Het
Camkk1 C T 11: 72,918,307 (GRCm39) R52C probably damaging Het
Camkmt T A 17: 85,403,958 (GRCm39) V60E probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbr2 A T 11: 120,622,791 (GRCm39) L3Q possibly damaging Het
Ccar1 A T 10: 62,586,434 (GRCm39) D920E unknown Het
Cdc20b A G 13: 113,192,478 (GRCm39) N57S probably benign Het
Cep83 G A 10: 94,624,525 (GRCm39) E601K probably damaging Het
Cldn10 A T 14: 119,111,080 (GRCm39) I176L probably benign Het
Cpeb2 T C 5: 43,441,273 (GRCm39) probably benign Het
Crb1 A G 1: 139,265,344 (GRCm39) S25P probably damaging Het
Cyp3a59 A T 5: 146,039,684 (GRCm39) Y319F probably damaging Het
Dst C T 1: 34,240,312 (GRCm39) S1561F probably damaging Het
Dxo C T 17: 35,057,270 (GRCm39) R221C probably damaging Het
Dynlt4 A T 4: 116,985,191 (GRCm39) T5S probably benign Het
Epc2 A G 2: 49,439,984 (GRCm39) T801A possibly damaging Het
Fndc3a C A 14: 72,806,384 (GRCm39) C373F probably damaging Het
Fuca2 A G 10: 13,381,587 (GRCm39) T84A possibly damaging Het
Garin4 G A 1: 190,896,682 (GRCm39) probably benign Het
Gmeb1 A T 4: 131,979,051 (GRCm39) N21K probably benign Het
Htt T C 5: 35,021,718 (GRCm39) probably benign Het
Igsf1 T C X: 48,880,863 (GRCm39) R251G possibly damaging Het
Itih4 A T 14: 30,619,504 (GRCm39) H720L probably benign Het
Kank4 A T 4: 98,663,073 (GRCm39) L705* probably null Het
Krt34 A T 11: 99,931,854 (GRCm39) S122T probably benign Het
L1td1 A G 4: 98,625,517 (GRCm39) T571A probably benign Het
Lag3 T C 6: 124,886,210 (GRCm39) T248A possibly damaging Het
Lgi1 T A 19: 38,272,629 (GRCm39) H133Q probably benign Het
Map1a A T 2: 121,134,607 (GRCm39) T1808S probably benign Het
Mcm9 T C 10: 53,424,752 (GRCm39) T613A probably damaging Het
Meaf6 A G 4: 124,983,931 (GRCm39) I111V probably benign Het
Mki67 G A 7: 135,296,845 (GRCm39) P2730S possibly damaging Het
Mlc1 A C 15: 88,842,350 (GRCm39) C337G probably damaging Het
Mrc2 T A 11: 105,227,482 (GRCm39) Y572N probably damaging Het
Mterf3 T C 13: 67,070,967 (GRCm39) N172S possibly damaging Het
Or3a1c T A 11: 74,046,196 (GRCm39) M72K probably benign Het
Or4b1 A T 2: 89,979,068 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,064 (GRCm39) D69V probably damaging Het
Or5ak4 A T 2: 85,161,687 (GRCm39) L185H probably damaging Het
Or6c6c T C 10: 129,541,487 (GRCm39) S247P probably damaging Het
Padi4 T G 4: 140,484,881 (GRCm39) T327P possibly damaging Het
Pga5 T A 19: 10,651,201 (GRCm39) I151F probably benign Het
Pkdrej G T 15: 85,702,275 (GRCm39) D1220E probably benign Het
Prokr2 T A 2: 132,215,684 (GRCm39) Q259L probably damaging Het
Ptbp2 C A 3: 119,546,754 (GRCm39) D43Y probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgps2 C T 1: 156,660,500 (GRCm39) R237Q possibly damaging Het
Rap1gds1 C A 3: 138,671,624 (GRCm39) probably null Het
Saa2 T A 7: 46,401,716 (GRCm39) M1K probably null Het
Samd9l T C 6: 3,375,426 (GRCm39) I612V probably damaging Het
Scn10a C T 9: 119,442,692 (GRCm39) V1518I probably benign Het
Serpina6 T C 12: 103,618,012 (GRCm39) D267G probably damaging Het
Sh2d4b A G 14: 40,564,329 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,718,034 (GRCm39) V505A probably benign Het
Smad2 A G 18: 76,395,657 (GRCm39) E32G possibly damaging Het
Smn1 T G 13: 100,263,118 (GRCm39) D32E probably damaging Het
Spata31d1c T C 13: 65,182,883 (GRCm39) S142P possibly damaging Het
Stk39 A T 2: 68,221,293 (GRCm39) I210N probably damaging Het
Tcte2 A G 17: 13,937,899 (GRCm39) probably benign Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Tenm2 A T 11: 35,937,896 (GRCm39) H1592Q probably damaging Het
Tescl A G 7: 24,032,668 (GRCm39) V219A probably damaging Het
Tgm6 C T 2: 129,993,660 (GRCm39) S633L probably benign Het
Tmcc1 C T 6: 116,110,924 (GRCm39) S123N probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ulk2 G A 11: 61,670,581 (GRCm39) R992C probably damaging Het
Vwa5b1 G A 4: 138,332,184 (GRCm39) H278Y probably damaging Het
Wwp2 C T 8: 108,275,121 (GRCm39) R373W probably damaging Het
Zfp24 A T 18: 24,150,399 (GRCm39) D170E possibly damaging Het
Zfp808 T C 13: 62,319,311 (GRCm39) I180T possibly damaging Het
Zfp820 T A 17: 22,037,737 (GRCm39) Q530H probably benign Het
Zfp975 A T 7: 42,311,507 (GRCm39) Y369N probably benign 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
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
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'- TGCTACTATGACCGAGAGCCCTAC -3'
(R):5'- CGAATTCACTTCACATTCACCGCTG -3'

Sequencing Primer
(F):5'- GAGAGCCCTACCTGACCCTC -3'
(R):5'- TCACATTCACCGCTGGTAGG -3'
Posted On 2014-04-13