Incidental Mutation 'R5431:Frmd5'
ID 428033
Institutional Source Beutler Lab
Gene Symbol Frmd5
Ensembl Gene ENSMUSG00000027238
Gene Name FERM domain containing 5
Synonyms 1500032A09Rik, A930004K21Rik
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121376010-121637568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121393390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 235 (N235S)
Ref Sequence ENSEMBL: ENSMUSP00000115136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110592] [ENSMUST00000110593] [ENSMUST00000121219] [ENSMUST00000128428] [ENSMUST00000138157] [ENSMUST00000155570]
AlphaFold Q6P5H6
Predicted Effect probably damaging
Transcript: ENSMUST00000110592
AA Change: N235S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238
AA Change: N235S

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 damaging
Transcript: ENSMUST00000110593
AA Change: N227S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238
AA Change: N227S

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 damaging
Transcript: ENSMUST00000121219
AA Change: N146S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238
AA Change: N146S

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 unknown
Transcript: ENSMUST00000128428
AA Change: T206A
SMART Domains Protein: ENSMUSP00000116468
Gene: ENSMUSG00000027238
AA Change: T206A

DomainStartEndE-ValueType
B41 13 202 3.21e-44 SMART
Predicted Effect unknown
Transcript: ENSMUST00000133898
AA Change: N153S
SMART Domains Protein: ENSMUSP00000118269
Gene: ENSMUSG00000027238
AA Change: N153S

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 damaging
Transcript: ENSMUST00000138157
AA Change: N235S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238
AA Change: N235S

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 damaging
Transcript: ENSMUST00000155570
AA Change: N227S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238
AA Change: N227S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G 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
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
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'- TGTTGACTCTCAGGGACACC -3'
(R):5'- GCCTACAAATAGCATGGGTGTC -3'

Sequencing Primer
(F):5'- GGAAGACCACTACCTTCATCAG -3'
(R):5'- CCCTTGAACTCACTATGTAGCTGAAG -3'
Posted On 2016-09-01