Incidental Mutation 'R7520:Frmd5'
ID 582613
Institutional Source Beutler Lab
Gene Symbol Frmd5
Ensembl Gene ENSMUSG00000027238
Gene Name FERM domain containing 5
Synonyms 1500032A09Rik, A930004K21Rik
MMRRC Submission 045592-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7520 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 121376010-121637568 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 121384745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110592] [ENSMUST00000110592] [ENSMUST00000110593] [ENSMUST00000110593] [ENSMUST00000121219] [ENSMUST00000121219] [ENSMUST00000128428] [ENSMUST00000138157] [ENSMUST00000138157] [ENSMUST00000155570] [ENSMUST00000155570] [ENSMUST00000212518]
AlphaFold Q6P5H6
Predicted Effect probably null
Transcript: ENSMUST00000110592
SMART Domains Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 13 210 2.23e-61 SMART
FERM_C 214 302 6.86e-24 SMART
FA 308 354 1.45e-13 SMART
low complexity region 452 474 N/A INTRINSIC
transmembrane domain 501 523 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110592
SMART Domains Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 13 210 2.23e-61 SMART
FERM_C 214 302 6.86e-24 SMART
FA 308 354 1.45e-13 SMART
low complexity region 452 474 N/A INTRINSIC
transmembrane domain 501 523 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110593
SMART Domains Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 2 202 4.13e-56 SMART
FERM_C 206 294 6.86e-24 SMART
FA 300 346 1.45e-13 SMART
low complexity region 444 466 N/A INTRINSIC
low complexity region 489 504 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110593
SMART Domains Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 2 202 4.13e-56 SMART
FERM_C 206 294 6.86e-24 SMART
FA 300 346 1.45e-13 SMART
low complexity region 444 466 N/A INTRINSIC
low complexity region 489 504 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000121219
SMART Domains Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 1 121 1.92e-4 SMART
FERM_C 125 213 6.86e-24 SMART
FA 219 265 1.45e-13 SMART
low complexity region 363 385 N/A INTRINSIC
transmembrane domain 412 434 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000121219
SMART Domains Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 1 121 1.92e-4 SMART
FERM_C 125 213 6.86e-24 SMART
FA 219 265 1.45e-13 SMART
low complexity region 363 385 N/A INTRINSIC
transmembrane domain 412 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128428
SMART Domains Protein: ENSMUSP00000116468
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 13 202 3.21e-44 SMART
Predicted Effect probably null
Transcript: ENSMUST00000131092
SMART Domains Protein: ENSMUSP00000118272
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
FA 2 45 2.55e-9 SMART
low complexity region 143 165 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000131092
SMART Domains Protein: ENSMUSP00000118272
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
FA 2 45 2.55e-9 SMART
low complexity region 143 165 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000133898
SMART Domains Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 1 129 8.68e-9 SMART
FERM_C 133 221 6.86e-24 SMART
FA 227 273 1.45e-13 SMART
low complexity region 371 393 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000133898
SMART Domains Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 1 129 8.68e-9 SMART
FERM_C 133 221 6.86e-24 SMART
FA 227 273 1.45e-13 SMART
low complexity region 371 393 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000138157
SMART Domains Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 13 210 2.23e-61 SMART
FERM_C 214 302 6.86e-24 SMART
FA 308 354 1.45e-13 SMART
low complexity region 452 474 N/A INTRINSIC
low complexity region 497 512 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000138157
SMART Domains Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 13 210 2.23e-61 SMART
FERM_C 214 302 6.86e-24 SMART
FA 308 354 1.45e-13 SMART
low complexity region 452 474 N/A INTRINSIC
low complexity region 497 512 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000155570
SMART Domains Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 2 202 4.13e-56 SMART
FERM_C 206 294 6.86e-24 SMART
FA 300 346 1.45e-13 SMART
low complexity region 444 466 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000155570
SMART Domains Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 2 202 4.13e-56 SMART
FERM_C 206 294 6.86e-24 SMART
FA 300 346 1.45e-13 SMART
low complexity region 444 466 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212518
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,281,859 (GRCm39) Y311C probably damaging Het
Abca1 A T 4: 53,078,114 (GRCm39) I886N probably benign Het
Adamts6 A G 13: 104,433,694 (GRCm39) H41R probably benign Het
Adck1 T C 12: 88,425,975 (GRCm39) probably null Het
Atat1 G T 17: 36,208,706 (GRCm39) T398K probably benign Het
Bahcc1 A G 11: 120,167,031 (GRCm39) E1144G possibly damaging Het
Cand2 G T 6: 115,762,212 (GRCm39) E213* probably null Het
Cep350 A G 1: 155,791,375 (GRCm39) S1250P probably benign Het
Cln3 A G 7: 126,180,852 (GRCm39) L63P probably damaging Het
Col4a4 A T 1: 82,484,808 (GRCm39) C486* probably null Het
Ctnnal1 A T 4: 56,837,838 (GRCm39) M264K probably damaging Het
Ddr2 T A 1: 169,812,008 (GRCm39) D738V probably damaging Het
Dnah6 T C 6: 73,104,887 (GRCm39) M1901V probably benign Het
Dnhd1 A G 7: 105,345,255 (GRCm39) T2200A probably benign Het
Dolk A G 2: 30,174,555 (GRCm39) Y497H probably benign Het
Drd5 T C 5: 38,478,195 (GRCm39) V396A probably benign Het
Epsti1 A T 14: 78,200,883 (GRCm39) probably null Het
Erich3 A G 3: 154,468,763 (GRCm39) T1072A unknown Het
Ero1a A T 14: 45,544,032 (GRCm39) N57K probably damaging Het
Exph5 T C 9: 53,278,514 (GRCm39) probably null Het
H2-Q7 A G 17: 35,661,686 (GRCm39) T310A probably benign Het
Hecw2 G T 1: 53,965,215 (GRCm39) A537E probably benign Het
Itga4 A T 2: 79,131,333 (GRCm39) D567V probably damaging Het
Kcnu1 A T 8: 26,375,368 (GRCm39) N361Y probably damaging Het
Keap1 A G 9: 21,144,787 (GRCm39) S408P probably benign Het
Mamdc4 T A 2: 25,455,360 (GRCm39) I928F possibly damaging Het
Mboat4 T C 8: 34,591,028 (GRCm39) F155S probably benign Het
Mtbp A G 15: 55,440,742 (GRCm39) probably benign Het
Nmi T G 2: 51,842,492 (GRCm39) K200T probably benign Het
Or2n1e G A 17: 38,586,331 (GRCm39) C223Y probably benign Het
Or8g19 G T 9: 39,055,414 (GRCm39) R6L probably benign Het
Pcdha7 G A 18: 37,108,366 (GRCm39) V464M probably damaging Het
Peg10 T A 6: 4,756,796 (GRCm39) N457K unknown Het
Plekha7 A T 7: 115,736,519 (GRCm39) I944N possibly damaging Het
Plpp1 T A 13: 112,937,781 (GRCm39) D13E possibly damaging Het
Pnpla6 G T 8: 3,587,508 (GRCm39) V1070F probably damaging Het
Riox1 T A 12: 83,998,545 (GRCm39) Y360* probably null Het
Sdhb A G 4: 140,693,882 (GRCm39) D50G possibly damaging Het
Slc35f2 T A 9: 53,708,385 (GRCm39) V126D possibly damaging Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Snap91 T A 9: 86,721,702 (GRCm39) I46F probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Taar7b T C 10: 23,876,381 (GRCm39) L182P probably damaging Het
Tmc1 T A 19: 20,776,542 (GRCm39) M606L probably damaging Het
Trpm8 T A 1: 88,271,043 (GRCm39) D444E probably benign Het
Tsen54 A G 11: 115,711,797 (GRCm39) T405A probably damaging Het
Ttll5 T C 12: 85,946,245 (GRCm39) W492R probably damaging Het
Ttn T A 2: 76,728,123 (GRCm39) T5566S unknown Het
Utp20 A T 10: 88,654,457 (GRCm39) M210K probably damaging Het
Zfand1 A G 3: 10,411,009 (GRCm39) V115A probably damaging Het
Other mutations in Frmd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03025:Frmd5 APN 2 121,383,825 (GRCm39) missense probably benign
big_rip UTSW 2 121,379,699 (GRCm39) nonsense probably null
PIT4812001:Frmd5 UTSW 2 121,416,927 (GRCm39) missense probably benign 0.34
R0385:Frmd5 UTSW 2 121,386,055 (GRCm39) missense probably damaging 1.00
R1667:Frmd5 UTSW 2 121,379,211 (GRCm39) frame shift probably null
R4243:Frmd5 UTSW 2 121,393,363 (GRCm39) splice site probably null
R4590:Frmd5 UTSW 2 121,595,512 (GRCm39) splice site probably null
R4705:Frmd5 UTSW 2 121,393,344 (GRCm39) intron probably benign
R4909:Frmd5 UTSW 2 121,422,134 (GRCm39) splice site probably null
R4935:Frmd5 UTSW 2 121,393,405 (GRCm39) missense possibly damaging 0.75
R5008:Frmd5 UTSW 2 121,379,341 (GRCm39) missense probably damaging 1.00
R5095:Frmd5 UTSW 2 121,379,402 (GRCm39) missense possibly damaging 0.95
R5431:Frmd5 UTSW 2 121,393,390 (GRCm39) missense probably damaging 1.00
R5875:Frmd5 UTSW 2 121,388,959 (GRCm39) intron probably benign
R6246:Frmd5 UTSW 2 121,381,529 (GRCm39) missense possibly damaging 0.66
R6404:Frmd5 UTSW 2 121,379,699 (GRCm39) nonsense probably null
R7039:Frmd5 UTSW 2 121,378,128 (GRCm39) unclassified probably benign
R7072:Frmd5 UTSW 2 121,388,351 (GRCm39) missense probably damaging 0.97
R7804:Frmd5 UTSW 2 121,422,225 (GRCm39) missense probably damaging 0.99
R8302:Frmd5 UTSW 2 121,378,060 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTTGGCCAGAAGCTTCATGG -3'
(R):5'- CCACAGAGACTGAAGCCTTG -3'

Sequencing Primer
(F):5'- AAGCTTCATGGGCTTGGC -3'
(R):5'- ACTGAAGCCTTGGGGGATG -3'
Posted On 2019-10-17