Incidental Mutation 'R1667:Frmd5'
ID 187262
Institutional Source Beutler Lab
Gene Symbol Frmd5
Ensembl Gene ENSMUSG00000027238
Gene Name FERM domain containing 5
Synonyms 1500032A09Rik, A930004K21Rik
MMRRC Submission 039703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1667 (G1)
Quality Score 150
Status Validated
Chromosome 2
Chromosomal Location 121376010-121637568 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) ATAGTGGAATTGTTCAAACTC to ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC at 121379211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110592] [ENSMUST00000110593] [ENSMUST00000110602] [ENSMUST00000121219] [ENSMUST00000128428] [ENSMUST00000212518] [ENSMUST00000138157] [ENSMUST00000155570]
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 benign
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 benign
Transcript: ENSMUST00000110602
SMART Domains Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
low complexity region 93 109 N/A INTRINSIC
low complexity region 137 154 N/A INTRINSIC
WD40 205 244 8.59e-1 SMART
WD40 249 289 1.63e-4 SMART
WD40 292 331 1.98e1 SMART
WD40 336 375 4.75e1 SMART
WD40 383 423 9.24e-4 SMART
low complexity region 424 435 N/A INTRINSIC
WD40 479 520 2.28e2 SMART
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 benign
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: ENSMUST00000212518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153932
Predicted Effect probably benign
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 benign
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: 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (76/77)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,425,564 (GRCm39) A26T possibly damaging Het
Adgrg3 T A 8: 95,760,001 (GRCm39) Y73* probably null Het
Alk A T 17: 72,218,562 (GRCm39) V761E probably damaging Het
Ankrd13a T C 5: 114,924,794 (GRCm39) V93A possibly damaging Het
Anks1b T C 10: 90,347,046 (GRCm39) probably null Het
Arb2a T A 13: 77,907,635 (GRCm39) M1K probably null Het
Ascl1 T C 10: 87,328,655 (GRCm39) N99S probably benign Het
Atm A T 9: 53,412,232 (GRCm39) L972Q probably damaging Het
Atp2c1 A T 9: 105,309,996 (GRCm39) L566Q probably null Het
Bank1 T A 3: 135,799,057 (GRCm39) Y629F probably damaging Het
Bod1l G T 5: 41,974,118 (GRCm39) L2399I probably benign Het
Bub1b G A 2: 118,471,670 (GRCm39) G1010D probably benign Het
Ces1b G A 8: 93,783,532 (GRCm39) H563Y possibly damaging Het
Cfap70 T C 14: 20,454,225 (GRCm39) E853G probably benign Het
Cfh T C 1: 140,033,261 (GRCm39) E779G probably benign Het
Cox7c A G 13: 86,194,003 (GRCm39) S7P probably benign Het
Cyp2c67 A G 19: 39,632,034 (GRCm39) probably null Het
Dhx30 G T 9: 109,914,513 (GRCm39) L995I possibly damaging Het
Dhx30 G C 9: 109,914,514 (GRCm39) N957K possibly damaging Het
Dsc3 T C 18: 20,124,617 (GRCm39) T36A possibly damaging Het
Dstyk A G 1: 132,384,657 (GRCm39) D717G probably damaging Het
Dusp10 A G 1: 183,769,055 (GRCm39) D7G probably damaging Het
E230001N04Rik T G 17: 28,742,935 (GRCm39) noncoding transcript Het
Ece2 T C 16: 20,456,588 (GRCm39) S330P possibly damaging Het
Gata3 T C 2: 9,882,360 (GRCm39) H14R possibly damaging Het
Ggta1 T A 2: 35,304,295 (GRCm39) I75F possibly damaging Het
Hcn1 A T 13: 117,739,609 (GRCm39) I124F unknown Het
Herpud1 A C 8: 95,115,994 (GRCm39) D53A probably damaging Het
Inhba T A 13: 16,201,209 (GRCm39) L257Q possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Jmy T A 13: 93,634,878 (GRCm39) S313C probably damaging Het
Lpo G A 11: 87,698,067 (GRCm39) probably benign Het
Lsg1 T C 16: 30,390,170 (GRCm39) E315G probably damaging Het
Lsm14a T A 7: 34,065,079 (GRCm39) T167S possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k2 T C 18: 32,336,845 (GRCm39) probably benign Het
Mapk12 A T 15: 89,024,344 (GRCm39) M81K probably damaging Het
Matn2 T A 15: 34,378,878 (GRCm39) C305S probably damaging Het
Mgam T C 6: 40,653,978 (GRCm39) Y844H possibly damaging Het
Mgat5b A G 11: 116,838,203 (GRCm39) R281G probably benign Het
Mon1b T G 8: 114,368,589 (GRCm39) C497G probably damaging Het
Mybbp1a A T 11: 72,336,043 (GRCm39) H452L probably benign Het
Mybl2 A G 2: 162,917,616 (GRCm39) T41A probably damaging Het
Ncoa5 A G 2: 164,843,623 (GRCm39) V540A probably damaging Het
Nup93 T A 8: 95,019,315 (GRCm39) V47E possibly damaging Het
Or10a4 A T 7: 106,696,977 (GRCm39) M102L probably benign Het
Or5j3 A G 2: 86,129,080 (GRCm39) M307V probably null Het
Orc6 T A 8: 86,031,914 (GRCm39) C100S possibly damaging Het
Otogl G T 10: 107,649,826 (GRCm39) Y1176* probably null Het
Patj A T 4: 98,301,264 (GRCm39) D183V probably damaging Het
Pik3r3 A G 4: 116,079,514 (GRCm39) T4A probably damaging Het
Pla2g4d G A 2: 120,100,631 (GRCm39) probably benign Het
Pla2r1 A G 2: 60,250,601 (GRCm39) I1407T probably benign Het
Pramel13 A T 4: 144,119,606 (GRCm39) C320* probably null Het
Prex2 A T 1: 11,256,981 (GRCm39) H1231L probably benign Het
Prkca A G 11: 107,874,772 (GRCm39) V390A probably damaging Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rec8 T A 14: 55,856,253 (GRCm39) N37K probably damaging Het
Rnf207 C T 4: 152,397,672 (GRCm39) E361K probably benign Het
Serpina3f T A 12: 104,183,699 (GRCm39) L187Q probably damaging Het
Skint11 A T 4: 114,051,978 (GRCm39) T109S probably damaging Het
Slc7a8 A G 14: 54,962,306 (GRCm39) S443P probably damaging Het
Slc8b1 T A 5: 120,659,147 (GRCm39) F197Y probably benign Het
Sox2 T C 3: 34,704,568 (GRCm39) Y2H probably damaging Het
Speg T A 1: 75,387,193 (GRCm39) probably benign Het
Tlr3 T C 8: 45,853,874 (GRCm39) N149D probably benign Het
Trim60 A C 8: 65,454,116 (GRCm39) D44E probably benign Het
Ugt1a7c A G 1: 88,023,657 (GRCm39) Y272C probably damaging Het
Vmn1r4 T A 6: 56,933,738 (GRCm39) Y81N probably damaging Het
Vmn2r73 A T 7: 85,506,889 (GRCm39) C808S probably benign Het
Ythdf3 T C 3: 16,259,056 (GRCm39) I412T possibly damaging Het
Zfp672 T C 11: 58,206,921 (GRCm39) T467A possibly damaging Het
Zfp985 A T 4: 147,668,407 (GRCm39) Q425L possibly 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
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
R7520:Frmd5 UTSW 2 121,384,745 (GRCm39) critical splice donor site probably null
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'- GAAAGAACCCTGCTAGGCTCAGTG -3'
(R):5'- GCAGACAGCAATGAACGTGTCG -3'

Sequencing Primer
(F):5'- CTCAGTGGACTTTGAGTCATGAGAG -3'
(R):5'- CAATGAACGTGTCGCTGTGATAG -3'
Posted On 2014-05-09