Incidental Mutation 'R4616:Frmd3'
ID 351033
Institutional Source Beutler Lab
Gene Symbol Frmd3
Ensembl Gene ENSMUSG00000049122
Gene Name FERM domain containing 3
Synonyms 4.1O, EPB41L4O, 9430066I12Rik, P410
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 73931679-74120451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74106109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 585 (V585A)
Ref Sequence ENSEMBL: ENSMUSP00000081514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084474] [ENSMUST00000098006]
AlphaFold Q8BHD4
Predicted Effect probably benign
Transcript: ENSMUST00000084474
AA Change: V585A

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: V585A

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
SMART Domains Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154134
Meta Mutation Damage Score 0.1016 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly 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
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
R6813:Frmd3 UTSW 4 74,077,482 (GRCm39) missense probably benign 0.00
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'- AATCCTGACCGGCCATATCTGG -3'
(R):5'- CAAGGTTTGAGCAGTCAGTTAAG -3'

Sequencing Primer
(F):5'- CCTGGTCAAGAGTTTCTCCAGG -3'
(R):5'- GCAGTCAGTTAAGAGAGTTAAGAGTC -3'
Posted On 2015-10-08