Incidental Mutation 'R6813:Frmd3'
ID 533930
Institutional Source Beutler Lab
Gene Symbol Frmd3
Ensembl Gene ENSMUSG00000049122
Gene Name FERM domain containing 3
Synonyms 4.1O, EPB41L4O, 9430066I12Rik, P410
MMRRC Submission 044925-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R6813 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 73931679-74120451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74077482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 259 (S259P)
Ref Sequence ENSEMBL: ENSMUSP00000095615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084474] [ENSMUST00000098006]
AlphaFold Q8BHD4
Predicted Effect probably benign
Transcript: ENSMUST00000084474
AA Change: S259P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: S259P

DomainStartEndE-ValueType
B41 28 225 5.17e-57 SMART
FERM_C 229 316 1.93e-18 SMART
FA 322 368 4.1e-13 SMART
low complexity region 391 401 N/A INTRINSIC
transmembrane domain 530 552 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098006
AA Change: S259P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: S259P

DomainStartEndE-ValueType
B41 28 225 5.17e-57 SMART
FERM_C 229 316 1.93e-18 SMART
FA 322 368 4.1e-13 SMART
low complexity region 391 401 N/A INTRINSIC
transmembrane domain 529 551 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.9%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C A 4: 129,903,284 (GRCm39) Q603K probably damaging Het
Adgrf3 A G 5: 30,402,519 (GRCm39) F503S probably damaging Het
Arfgap3 A T 15: 83,214,794 (GRCm39) M164K probably benign Het
Asb13 G T 13: 3,695,029 (GRCm39) V166F probably damaging Het
Atm T G 9: 53,408,535 (GRCm39) R1103S probably benign Het
Atxn7l1 T C 12: 33,417,123 (GRCm39) I626T probably damaging Het
Brsk2 A G 7: 141,556,214 (GRCm39) I649V probably benign Het
Ccdc25 T A 14: 66,093,882 (GRCm39) M85K probably benign Het
Cdc42bpb A G 12: 111,294,049 (GRCm39) V231A probably damaging Het
Clstn3 T A 6: 124,413,894 (GRCm39) M767L probably benign Het
Col6a6 C T 9: 105,661,140 (GRCm39) R323K probably benign Het
Cplane1 T A 15: 8,258,766 (GRCm39) N2337K probably benign Het
Creld1 A G 6: 113,466,530 (GRCm39) Y199C probably damaging Het
Csf1r T A 18: 61,245,806 (GRCm39) D254E probably benign Het
Dab2ip C T 2: 35,620,485 (GRCm39) Q1118* probably null Het
Dcun1d4 C A 5: 73,678,300 (GRCm39) S98R possibly damaging Het
Disp3 G A 4: 148,344,387 (GRCm39) P505L probably benign Het
Dlec1 A T 9: 118,941,170 (GRCm39) Q240L probably benign Het
Dnai4 T C 4: 102,905,523 (GRCm39) K753E probably benign Het
Edil3 T A 13: 89,437,575 (GRCm39) I392N probably damaging Het
Epha10 T A 4: 124,796,486 (GRCm39) S398R Het
Ephb1 A G 9: 101,887,247 (GRCm39) I464T possibly damaging Het
Eps15 T A 4: 109,137,599 (GRCm39) probably null Het
Fam111a T A 19: 12,564,706 (GRCm39) C152S probably damaging Het
Flt3 T C 5: 147,291,653 (GRCm39) E599G probably damaging Het
Hsfy2 A G 1: 56,675,461 (GRCm39) Y359H possibly damaging Het
Ifih1 C T 2: 62,476,037 (GRCm39) V80M possibly damaging Het
Il12rb2 A C 6: 67,269,358 (GRCm39) D818E probably damaging Het
Il4i1 A G 7: 44,489,236 (GRCm39) T334A probably benign Het
Irs2 G A 8: 11,054,659 (GRCm39) Q1258* probably null Het
Lsm1 T G 8: 26,283,721 (GRCm39) H44Q probably benign Het
Mgam A T 6: 40,727,099 (GRCm39) M1257L probably damaging Het
Myc T C 15: 61,860,001 (GRCm39) S225P probably damaging Het
Myh1 T C 11: 67,111,286 (GRCm39) V1575A probably benign Het
Myo9b A G 8: 71,775,949 (GRCm39) D380G probably damaging Het
Ncoa7 T A 10: 30,572,188 (GRCm39) D157V probably damaging Het
Or10g9b T A 9: 39,917,753 (GRCm39) H164L probably benign Het
Or2t44 G T 11: 58,677,472 (GRCm39) Q137H probably benign Het
Or7g16 G A 9: 18,727,188 (GRCm39) T134M probably benign Het
Or8b36 T C 9: 37,937,129 (GRCm39) V9A probably damaging Het
Or8b9 A C 9: 37,766,810 (GRCm39) E232A possibly damaging Het
Pccb A G 9: 100,905,268 (GRCm39) V117A probably damaging Het
Pdp2 C T 8: 105,321,131 (GRCm39) H327Y probably damaging Het
Pdzph1 G T 17: 59,281,431 (GRCm39) Q284K probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Phldb1 A T 9: 44,610,865 (GRCm39) S751R probably damaging Het
Pira1 T C 7: 3,739,002 (GRCm39) H535R probably benign Het
Ppp1r1b T A 11: 98,240,002 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,719,570 (GRCm39) V448A probably benign Het
Pvrig-ps A T 5: 138,340,312 (GRCm39) T28S probably benign Het
Rasgrf1 G A 9: 89,892,537 (GRCm39) probably null Het
Scnn1g T C 7: 121,339,576 (GRCm39) L125S probably damaging Het
Slc30a7 A T 3: 115,775,460 (GRCm39) D221E probably benign Het
Spata31e1 T A 13: 49,940,872 (GRCm39) R279S probably benign Het
Tmem30c A G 16: 57,101,622 (GRCm39) probably null Het
Tmem33 T C 5: 67,421,802 (GRCm39) probably null Het
Ttc29 A T 8: 79,060,249 (GRCm39) T390S probably benign Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn2r81 T A 10: 79,104,439 (GRCm39) F354Y probably benign Het
Vmn2r96 A G 17: 18,802,116 (GRCm39) H119R probably benign Het
Wdr3 G A 3: 100,046,041 (GRCm39) R931* probably null Het
Wtap A T 17: 13,186,397 (GRCm39) N383K probably damaging Het
Zfp808 T C 13: 62,320,849 (GRCm39) Y693H probably damaging Het
Other mutations in Frmd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Frmd3 APN 4 73,992,357 (GRCm39) missense possibly damaging 0.62
IGL01774:Frmd3 APN 4 74,106,075 (GRCm39) missense probably damaging 1.00
IGL02213:Frmd3 APN 4 74,054,109 (GRCm39) missense probably benign 0.36
IGL02479:Frmd3 APN 4 74,105,752 (GRCm39) missense probably benign 0.30
IGL03248:Frmd3 APN 4 74,046,455 (GRCm39) missense possibly damaging 0.71
R0765:Frmd3 UTSW 4 74,080,004 (GRCm39) missense probably damaging 1.00
R1411:Frmd3 UTSW 4 74,071,858 (GRCm39) missense probably damaging 1.00
R1535:Frmd3 UTSW 4 73,931,995 (GRCm39) start gained probably benign
R1990:Frmd3 UTSW 4 74,105,676 (GRCm39) missense probably damaging 1.00
R3898:Frmd3 UTSW 4 73,992,346 (GRCm39) missense probably damaging 1.00
R4377:Frmd3 UTSW 4 74,046,535 (GRCm39) critical splice donor site probably null
R4616:Frmd3 UTSW 4 74,106,109 (GRCm39) missense probably benign 0.15
R4965:Frmd3 UTSW 4 74,071,837 (GRCm39) missense probably damaging 1.00
R5024:Frmd3 UTSW 4 74,016,381 (GRCm39) missense probably benign 0.00
R5104:Frmd3 UTSW 4 74,063,315 (GRCm39) missense probably damaging 1.00
R5418:Frmd3 UTSW 4 74,079,935 (GRCm39) critical splice acceptor site probably null
R5434:Frmd3 UTSW 4 74,106,033 (GRCm39) missense probably damaging 1.00
R5878:Frmd3 UTSW 4 74,071,847 (GRCm39) missense probably damaging 1.00
R5999:Frmd3 UTSW 4 74,088,928 (GRCm39) missense possibly damaging 0.49
R6031:Frmd3 UTSW 4 74,105,688 (GRCm39) missense probably damaging 0.99
R6031:Frmd3 UTSW 4 74,105,688 (GRCm39) missense probably damaging 0.99
R6616:Frmd3 UTSW 4 74,105,725 (GRCm39) missense probably damaging 0.97
R6941:Frmd3 UTSW 4 74,016,363 (GRCm39) missense probably benign 0.20
R7233:Frmd3 UTSW 4 73,932,023 (GRCm39) missense probably benign 0.09
R7334:Frmd3 UTSW 4 74,079,955 (GRCm39) missense probably benign 0.02
R7429:Frmd3 UTSW 4 74,063,342 (GRCm39) missense probably damaging 0.98
R7430:Frmd3 UTSW 4 74,063,342 (GRCm39) missense probably damaging 0.98
R7979:Frmd3 UTSW 4 74,071,852 (GRCm39) missense probably damaging 1.00
R8693:Frmd3 UTSW 4 74,080,286 (GRCm39) missense probably damaging 0.97
R8994:Frmd3 UTSW 4 74,088,985 (GRCm39) missense probably benign
R9065:Frmd3 UTSW 4 74,063,269 (GRCm39) critical splice acceptor site probably null
R9351:Frmd3 UTSW 4 74,054,068 (GRCm39) missense probably damaging 1.00
R9498:Frmd3 UTSW 4 74,038,055 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GGCTTCCATTCTCAACAGACC -3'
(R):5'- TAGCTCTATCCAGTTAACATTGCTC -3'

Sequencing Primer
(F):5'- CCATTCTCAACAGACCATTATTGATG -3'
(R):5'- GGATTGCCATAAAAATTCTCTAGCTC -3'
Posted On 2018-09-12