Incidental Mutation 'R6246:Flrt3'
ID 505756
Institutional Source Beutler Lab
Gene Symbol Flrt3
Ensembl Gene ENSMUSG00000051379
Gene Name fibronectin leucine rich transmembrane protein 3
Synonyms 5530600M07Rik, C430047I10Rik
MMRRC Submission 044436-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6246 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 140500118-140513396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140501721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 636 (Y636H)
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: Y636H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: Y636H

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: Y636H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: Y636H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172544
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (78/78)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,850,999 (GRCm39) V2110E probably damaging Het
Acaca C A 11: 84,206,796 (GRCm39) T1552K probably benign Het
Aknad1 A G 3: 108,659,148 (GRCm39) D54G probably damaging Het
Ano1 T C 7: 144,187,462 (GRCm39) T435A possibly damaging Het
Azgp1 A G 5: 137,983,475 (GRCm39) D50G possibly damaging Het
Bbx A G 16: 50,045,023 (GRCm39) S513P probably benign Het
Ccdc85a C T 11: 28,526,897 (GRCm39) S209N probably damaging Het
Cdca2 T A 14: 67,915,277 (GRCm39) R661* probably null Het
Cdhr2 T C 13: 54,867,523 (GRCm39) V451A probably damaging Het
Cenpt C T 8: 106,575,891 (GRCm39) G152S possibly damaging Het
Chd9 A G 8: 91,659,045 (GRCm39) T2A probably damaging Het
Chst14 G A 2: 118,757,482 (GRCm39) C117Y probably damaging Het
Cic C T 7: 24,971,067 (GRCm39) T266M probably damaging Het
Clec12a A T 6: 129,330,733 (GRCm39) N105I possibly damaging Het
Cmah G A 13: 24,650,773 (GRCm39) V525M probably damaging Het
Cplane1 T A 15: 8,239,498 (GRCm39) L1233H probably damaging Het
Cpt1a T C 19: 3,426,550 (GRCm39) L572P probably damaging Het
Crybg2 T C 4: 133,816,657 (GRCm39) L1365P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg1 G A 16: 31,484,468 (GRCm39) S32N probably benign Het
Dnah14 T C 1: 181,508,453 (GRCm39) I1877T probably benign Het
Duox1 G T 2: 122,157,655 (GRCm39) G594C probably damaging Het
Eci2 T C 13: 35,174,181 (GRCm39) N127D probably damaging Het
Ecpas A G 4: 58,811,365 (GRCm39) probably null Het
Fat4 T C 3: 38,945,870 (GRCm39) S1588P probably damaging Het
Fer1l4 T A 2: 155,866,902 (GRCm39) I1489F probably damaging Het
Frmd5 T A 2: 121,381,529 (GRCm39) H62L possibly damaging Het
Gm6309 A T 5: 146,107,050 (GRCm39) Y99N probably damaging Het
Gm8225 T C 17: 26,762,652 (GRCm39) V281A probably benign Het
Grep1 C A 17: 23,929,465 (GRCm39) G315* probably null Het
Grsf1 A G 5: 88,810,451 (GRCm39) L353P possibly damaging Het
Gtf2a1l A G 17: 88,978,975 (GRCm39) R58G probably benign Het
Guf1 G A 5: 69,715,898 (GRCm39) G113R probably damaging Het
Hfe A T 13: 23,892,212 (GRCm39) F51I probably damaging Het
Hibch T C 1: 52,943,801 (GRCm39) S250P probably damaging Het
Il1rap T A 16: 26,533,631 (GRCm39) M509K probably benign Het
Il4ra T C 7: 125,175,577 (GRCm39) V595A probably benign Het
Ints11 A G 4: 155,972,546 (GRCm39) T460A probably benign Het
Itprid1 A T 6: 55,944,657 (GRCm39) K459N probably damaging Het
Kdm5a G A 6: 120,408,871 (GRCm39) G1518E probably damaging Het
Khsrp T C 17: 57,332,324 (GRCm39) D289G possibly damaging Het
Kif14 C T 1: 136,404,162 (GRCm39) Q29* probably null Het
Krt72 T C 15: 101,689,372 (GRCm39) K320R probably damaging Het
Lcmt2 A G 2: 120,970,870 (GRCm39) L71P probably damaging Het
Lmo7 A T 14: 102,156,136 (GRCm39) D1037V probably damaging Het
Lpo T C 11: 87,713,058 (GRCm39) T15A unknown Het
Mia3 G T 1: 183,126,720 (GRCm39) T7N probably damaging Het
Muc16 A T 9: 18,488,363 (GRCm39) probably null Het
Mup9 T A 4: 60,375,809 (GRCm39) Y29F probably damaging Het
Nisch T C 14: 30,894,516 (GRCm39) D1105G probably damaging Het
Odad1 A G 7: 45,585,788 (GRCm39) I116V probably damaging Het
Oip5 T C 2: 119,446,101 (GRCm39) T136A probably benign Het
Or2a52 G A 6: 43,144,436 (GRCm39) probably null Het
Osbpl10 C A 9: 115,055,842 (GRCm39) N532K probably benign Het
P2ry12 C T 3: 59,124,950 (GRCm39) V242I probably benign Het
Pdhx A T 2: 102,877,137 (GRCm39) C26S probably damaging Het
Pgk2 A T 17: 40,518,315 (GRCm39) I371K probably damaging Het
Phyhip T C 14: 70,704,495 (GRCm39) V238A probably damaging Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Pld5 A T 1: 175,791,475 (GRCm39) C448* probably null Het
Plk1 T A 7: 121,768,659 (GRCm39) I553N probably damaging Het
Ppp1r13l T A 7: 19,103,783 (GRCm39) I88K probably benign Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Septin7 A G 9: 25,218,817 (GRCm39) E428G probably benign Het
Serpina3j G A 12: 104,283,706 (GRCm39) G268D probably damaging Het
Smc2 A T 4: 52,460,289 (GRCm39) D555V probably damaging Het
Spag16 A T 1: 69,962,980 (GRCm39) I376F probably benign Het
Spag6 G A 2: 18,703,906 (GRCm39) probably null Het
Tecta T C 9: 42,289,204 (GRCm39) I454V probably benign Het
Tlcd3b T A 7: 126,426,668 (GRCm39) F30L probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Traf5 C T 1: 191,754,853 (GRCm39) E28K probably damaging Het
Trav23 G A 14: 54,214,885 (GRCm39) E33K probably damaging Het
Trim32 T C 4: 65,532,801 (GRCm39) S453P probably damaging Het
Tssk1 A G 16: 17,713,303 (GRCm39) T363A probably benign Het
Txnrd3 A G 6: 89,628,523 (GRCm39) N88S probably benign Het
Unc13b A G 4: 43,216,246 (GRCm39) S182G probably benign Het
Vmn2r89 A T 14: 51,693,503 (GRCm39) R284S probably damaging Het
Zbtb14 A G 17: 69,694,478 (GRCm39) T59A possibly damaging Het
Zcchc2 T A 1: 105,957,796 (GRCm39) S756T possibly damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (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
R6746:Flrt3 UTSW 2 140,501,945 (GRCm39) missense probably damaging 0.99
R6854:Flrt3 UTSW 2 140,502,638 (GRCm39) missense probably damaging 1.00
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'- CAGCAGCAACCTGAAATCTG -3'
(R):5'- GATGACTATGCAGAAGCCGG -3'

Sequencing Primer
(F):5'- CAGTAGAACAGAGTTCCTACC -3'
(R):5'- CTATGCAGAAGCCGGTACTAAG -3'
Posted On 2018-02-28