Incidental Mutation 'R6854:Flrt3'
ID 535134
Institutional Source Beutler Lab
Gene Symbol Flrt3
Ensembl Gene ENSMUSG00000051379
Gene Name fibronectin leucine rich transmembrane protein 3
Synonyms 5530600M07Rik, C430047I10Rik
MMRRC Submission 044957-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6854 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 140500118-140513396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140502638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 330 (R330H)
Ref Sequence ENSEMBL: ENSMUSP00000105684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056760] [ENSMUST00000078027] [ENSMUST00000110057] [ENSMUST00000110063] [ENSMUST00000110064] [ENSMUST00000110067]
AlphaFold Q8BGT1
Predicted Effect probably damaging
Transcript: ENSMUST00000056760
AA Change: R330H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: R330H

DomainStartEndE-ValueType
LRRNT 30 62 3.12e-6 SMART
LRR 82 105 1.03e2 SMART
LRR 127 152 8.26e1 SMART
LRR 156 176 4.58e1 SMART
LRR 198 223 4.09e1 SMART
LRR 224 247 1.33e1 SMART
LRR 248 269 4.2e0 SMART
LRR_TYP 270 293 7.9e-4 SMART
LRRCT 305 356 1.49e-9 SMART
FN3 404 486 4.56e0 SMART
transmembrane domain 530 552 N/A INTRINSIC
low complexity region 625 639 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078027
SMART Domains Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
A1pp 71 201 5.72e-45 SMART
low complexity region 266 293 N/A INTRINSIC
low complexity region 307 319 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110057
AA Change: R330H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: R330H

DomainStartEndE-ValueType
LRRNT 30 62 3.12e-6 SMART
LRR 82 105 1.03e2 SMART
LRR 127 152 8.26e1 SMART
LRR 156 176 4.58e1 SMART
LRR 198 223 4.09e1 SMART
LRR 224 247 1.33e1 SMART
LRR 248 269 4.2e0 SMART
LRR_TYP 270 293 7.9e-4 SMART
LRRCT 305 356 1.49e-9 SMART
FN3 404 486 4.56e0 SMART
transmembrane domain 530 552 N/A INTRINSIC
low complexity region 625 639 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110063
SMART Domains Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
PDB:4IQY|B 21 107 1e-36 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110064
SMART Domains Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
A1pp 71 201 5.72e-45 SMART
low complexity region 266 293 N/A INTRINSIC
low complexity region 307 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110067
SMART Domains Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
A1pp 71 201 5.72e-45 SMART
Meta Mutation Damage Score 0.2543 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, abnormal embryonic tissue development, disrupted head formation, cardia bifida and abnormal ventral wall closure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,992,599 (GRCm39) S4628P probably damaging Het
Aspm G A 1: 139,390,920 (GRCm39) R735H possibly damaging Het
Atp4a T C 7: 30,414,433 (GRCm39) V152A probably benign Het
BC035947 G A 1: 78,475,125 (GRCm39) T469I probably damaging Het
Bicra A T 7: 15,722,687 (GRCm39) S277T probably benign Het
Catsperg1 A T 7: 28,881,127 (GRCm39) N1142K possibly damaging Het
Ccnd3 T C 17: 47,889,645 (GRCm39) probably benign Het
Cdc25a A G 9: 109,708,995 (GRCm39) K79E probably damaging Het
Cfap44 A G 16: 44,269,391 (GRCm39) probably null Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Gm6034 T A 17: 36,368,110 (GRCm39) probably null Het
Hivep1 A G 13: 42,309,983 (GRCm39) E741G probably damaging Het
Iqgap3 T C 3: 88,004,258 (GRCm39) V448A probably damaging Het
Itsn2 A G 12: 4,702,382 (GRCm39) R679G probably benign Het
Klrb1c A G 6: 128,765,381 (GRCm39) S70P possibly damaging Het
Maml2 C T 9: 13,617,131 (GRCm39) T159I possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mycl G A 4: 122,894,039 (GRCm39) D280N probably damaging Het
Nlrp1b G A 11: 71,119,259 (GRCm39) T12I possibly damaging Het
Or4f14c T C 2: 111,940,992 (GRCm39) N202D probably benign Het
Or5h19 A C 16: 58,856,428 (GRCm39) I224S possibly damaging Het
Palmd A G 3: 116,717,112 (GRCm39) S462P probably benign Het
Phyhd1 A C 2: 30,159,773 (GRCm39) I36L possibly damaging Het
Plcd1 T C 9: 118,903,389 (GRCm39) probably null Het
Pml G C 9: 58,127,189 (GRCm39) A806G probably damaging Het
Ppp6r1 C A 7: 4,635,395 (GRCm39) A838S probably benign Het
Prkdc C T 16: 15,469,402 (GRCm39) T169I probably damaging Het
Prr23a1 G T 9: 98,724,988 (GRCm39) V117L possibly damaging Het
Pus7 T C 5: 23,973,845 (GRCm39) silent Het
Rdh7 T C 10: 127,724,250 (GRCm39) E78G probably benign Het
Repin1 G T 6: 48,570,825 (GRCm39) probably benign Het
Rptn A G 3: 93,305,430 (GRCm39) N921S possibly damaging Het
Sema4f A G 6: 82,894,983 (GRCm39) L404P probably damaging Het
Serinc4 T A 2: 121,287,031 (GRCm39) M2L probably benign Het
Siglecf T C 7: 43,001,604 (GRCm39) V138A probably benign Het
Slc66a3 G A 12: 17,049,830 (GRCm39) L43F probably damaging Het
Speer2 T A 16: 69,655,775 (GRCm39) Q106L probably damaging Het
Sptb G A 12: 76,650,254 (GRCm39) P1821L probably damaging Het
St3gal3 C A 4: 117,815,727 (GRCm39) M107I probably benign Het
Tmem25 T C 9: 44,707,305 (GRCm39) K265E possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vsig10 G A 5: 117,476,472 (GRCm39) V309I probably benign Het
Zfp318 G GAAGAAA 17: 46,723,468 (GRCm39) probably benign Het
Other mutations in Flrt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Flrt3 APN 2 140,502,608 (GRCm39) missense probably damaging 0.99
IGL02292:Flrt3 APN 2 140,502,045 (GRCm39) missense probably damaging 1.00
R0030:Flrt3 UTSW 2 140,502,237 (GRCm39) missense probably damaging 1.00
R1487:Flrt3 UTSW 2 140,502,854 (GRCm39) missense probably damaging 1.00
R2061:Flrt3 UTSW 2 140,503,373 (GRCm39) missense probably damaging 1.00
R2115:Flrt3 UTSW 2 140,503,423 (GRCm39) missense probably damaging 1.00
R2326:Flrt3 UTSW 2 140,503,311 (GRCm39) missense possibly damaging 0.50
R3113:Flrt3 UTSW 2 140,503,454 (GRCm39) missense probably benign 0.03
R3605:Flrt3 UTSW 2 140,503,287 (GRCm39) missense probably damaging 1.00
R4366:Flrt3 UTSW 2 140,502,327 (GRCm39) missense probably damaging 0.99
R4702:Flrt3 UTSW 2 140,503,575 (GRCm39) missense probably benign
R4799:Flrt3 UTSW 2 140,502,086 (GRCm39) missense probably damaging 1.00
R5085:Flrt3 UTSW 2 140,502,177 (GRCm39) missense probably damaging 0.99
R5100:Flrt3 UTSW 2 140,513,304 (GRCm39) start gained probably null
R5109:Flrt3 UTSW 2 140,502,663 (GRCm39) missense possibly damaging 0.51
R5635:Flrt3 UTSW 2 140,502,420 (GRCm39) missense probably damaging 1.00
R5982:Flrt3 UTSW 2 140,502,836 (GRCm39) missense possibly damaging 0.95
R6117:Flrt3 UTSW 2 140,502,365 (GRCm39) missense possibly damaging 0.46
R6213:Flrt3 UTSW 2 140,503,085 (GRCm39) missense probably damaging 1.00
R6246:Flrt3 UTSW 2 140,501,721 (GRCm39) missense probably damaging 1.00
R6746:Flrt3 UTSW 2 140,501,945 (GRCm39) missense probably damaging 0.99
R7000:Flrt3 UTSW 2 140,502,804 (GRCm39) nonsense probably null
R7221:Flrt3 UTSW 2 140,503,090 (GRCm39) missense probably damaging 0.99
R7388:Flrt3 UTSW 2 140,503,672 (GRCm39) critical splice acceptor site probably null
R7444:Flrt3 UTSW 2 140,502,387 (GRCm39) missense probably benign 0.00
R7526:Flrt3 UTSW 2 140,502,126 (GRCm39) missense probably damaging 1.00
R7967:Flrt3 UTSW 2 140,501,811 (GRCm39) nonsense probably null
R8272:Flrt3 UTSW 2 140,502,617 (GRCm39) missense probably damaging 1.00
R8441:Flrt3 UTSW 2 140,502,546 (GRCm39) missense probably benign 0.00
R9109:Flrt3 UTSW 2 140,501,879 (GRCm39) missense probably damaging 1.00
R9257:Flrt3 UTSW 2 140,502,159 (GRCm39) missense probably benign
R9298:Flrt3 UTSW 2 140,501,879 (GRCm39) missense probably damaging 1.00
R9482:Flrt3 UTSW 2 140,503,590 (GRCm39) missense probably benign
R9629:Flrt3 UTSW 2 140,502,816 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TGTAGTTCGCTGATCCTTAATGAGC -3'
(R):5'- AAGGCAGCTGTATCGACTCG -3'

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