Incidental Mutation 'R4935:Frmd5'
ID 380279
Institutional Source Beutler Lab
Gene Symbol Frmd5
Ensembl Gene ENSMUSG00000027238
Gene Name FERM domain containing 5
Synonyms 1500032A09Rik, A930004K21Rik
MMRRC Submission 042535-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4935 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121376010-121637568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121393405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 141 (V141A)
Ref Sequence ENSEMBL: ENSMUSP00000113568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110592] [ENSMUST00000110593] [ENSMUST00000121219] [ENSMUST00000128428] [ENSMUST00000138157] [ENSMUST00000155570]
AlphaFold Q6P5H6
Predicted Effect possibly damaging
Transcript: ENSMUST00000110592
AA Change: V230A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238
AA Change: V230A

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 possibly damaging
Transcript: ENSMUST00000110593
AA Change: V222A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238
AA Change: V222A

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 possibly damaging
Transcript: ENSMUST00000121219
AA Change: V141A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238
AA Change: V141A

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 silent
Transcript: ENSMUST00000128428
SMART Domains Protein: ENSMUSP00000116468
Gene: ENSMUSG00000027238

DomainStartEndE-ValueType
B41 13 202 3.21e-44 SMART
Predicted Effect unknown
Transcript: ENSMUST00000133898
AA Change: V148A
SMART Domains Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238
AA Change: V148A

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 possibly damaging
Transcript: ENSMUST00000138157
AA Change: V230A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238
AA Change: V230A

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 possibly damaging
Transcript: ENSMUST00000155570
AA Change: V222A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238
AA Change: V222A

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 noncoding transcript
Transcript: ENSMUST00000142016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153932
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Abcb1a T A 5: 8,787,773 (GRCm39) probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adcyap1 A T 17: 93,511,541 (GRCm39) I172L probably benign Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
H2aj T A 6: 136,785,681 (GRCm39) V115E possibly damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnc2 A G 10: 112,108,133 (GRCm39) T175A probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Mrps30 A T 13: 118,523,431 (GRCm39) F114I possibly damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plaur A T 7: 24,166,141 (GRCm39) S71C possibly damaging Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Spmap2l T C 5: 77,185,200 (GRCm39) probably null Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S 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
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'- TCAACTCAAGGCTTTGGGAAAG -3'
(R):5'- AAATAGCATGGGTGTCTGTCTG -3'

Sequencing Primer
(F):5'- GGCTGCAAATCATAGCTGC -3'
(R):5'- CCCTTGAACTCACTATGTAGCTGAAG -3'
Posted On 2016-04-15