Incidental Mutation 'R6213:Flrt3'
ID 503544
Institutional Source Beutler Lab
Gene Symbol Flrt3
Ensembl Gene ENSMUSG00000051379
Gene Name fibronectin leucine rich transmembrane protein 3
Synonyms 5530600M07Rik, C430047I10Rik
MMRRC Submission 044346-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6213 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 140500118-140513396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140503085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 181 (R181H)
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: R181H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: R181H

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: R181H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: R181H

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,218,762 (GRCm39) Y207H probably damaging Het
Adcy7 G A 8: 89,040,765 (GRCm39) V335M probably damaging Het
Apol11b A C 15: 77,522,200 (GRCm39) D32E possibly damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdkn1b T A 6: 134,898,206 (GRCm39) D108E probably benign Het
Cep290 A G 10: 100,359,222 (GRCm39) D984G probably benign Het
Csde1 T C 3: 102,947,830 (GRCm39) V128A probably damaging Het
Csmd3 A G 15: 47,492,656 (GRCm39) S3162P probably damaging Het
D5Ertd579e G A 5: 36,759,978 (GRCm39) T1394I probably damaging Het
Ddx6 T A 9: 44,539,990 (GRCm39) L306Q probably damaging Het
Dmxl1 T A 18: 49,996,082 (GRCm39) S403T possibly damaging Het
F11 G T 8: 45,694,537 (GRCm39) T608K probably damaging Het
Hs3st1 A T 5: 39,771,864 (GRCm39) C260S probably damaging Het
Ighv7-1 A T 12: 113,860,141 (GRCm39) S84T probably damaging Het
Inpp4b A G 8: 82,724,019 (GRCm39) D332G probably damaging Het
Irf2bpl T C 12: 86,930,367 (GRCm39) Q102R probably benign Het
Itpr3 T A 17: 27,330,174 (GRCm39) D1597E probably benign Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Lypd8 A G 11: 58,281,160 (GRCm39) T241A probably benign Het
Map1lc3a T C 2: 155,118,935 (GRCm39) probably null Het
Mast1 G A 8: 85,642,198 (GRCm39) T1052I probably damaging Het
Muc2 T C 7: 141,305,151 (GRCm39) C152R probably damaging Het
Muc5b A T 7: 141,415,903 (GRCm39) M2950L probably benign Het
Muc5b A G 7: 141,421,356 (GRCm39) D4282G possibly damaging Het
Myo16 G T 8: 10,420,963 (GRCm39) probably null Het
Myo9a T A 9: 59,734,541 (GRCm39) F708I probably damaging Het
Nadsyn1 A T 7: 143,353,549 (GRCm39) F558Y probably benign Het
Nat9 A T 11: 115,075,932 (GRCm39) W30R probably damaging Het
Nipbl A G 15: 8,364,390 (GRCm39) L1338S probably damaging Het
Nipsnap3b A G 4: 53,017,066 (GRCm39) T97A probably benign Het
Npepps A T 11: 97,132,823 (GRCm39) Y301* probably null Het
Nrcam C T 12: 44,609,215 (GRCm39) P447S possibly damaging Het
Or14c41 A G 7: 86,234,485 (GRCm39) M1V probably null Het
Or1o4 T C 17: 37,591,264 (GRCm39) S16G probably benign Het
Or2a14 A G 6: 43,130,821 (GRCm39) N194S possibly damaging Het
Or52b4 T C 7: 102,184,139 (GRCm39) Y62H probably damaging Het
Pacsin3 G T 2: 91,090,779 (GRCm39) V29F probably damaging Het
Pdzrn3 A C 6: 101,354,805 (GRCm39) D15E probably damaging Het
Phf20l1 T C 15: 66,504,752 (GRCm39) probably null Het
Pign A C 1: 105,516,991 (GRCm39) V545G possibly damaging Het
Pkhd1 T C 1: 20,593,994 (GRCm39) N1373S possibly damaging Het
Ptchd4 T A 17: 42,688,251 (GRCm39) H264Q probably benign Het
Ptpn3 G T 4: 57,265,012 (GRCm39) Q73K probably damaging Het
Ptrh1 G A 2: 32,666,757 (GRCm39) V109I probably benign Het
Reg1 A T 6: 78,404,386 (GRCm39) I87F possibly damaging Het
Rrp12 C A 19: 41,857,217 (GRCm39) V1186L probably benign Het
Sall1 AGTGGTGGTGGTGGTGGTGGTGG AGTGGTGGTGGTGGTGGTGG 8: 89,759,686 (GRCm39) probably benign Het
Slc23a3 A C 1: 75,108,392 (GRCm39) F279V probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Suds3 A G 5: 117,244,727 (GRCm39) L115P probably damaging Het
Tekt2 G A 4: 126,216,989 (GRCm39) A260V probably damaging Het
Tgfb3 T A 12: 86,104,621 (GRCm39) Y391F probably damaging Het
Topbp1 T C 9: 103,209,950 (GRCm39) S866P probably benign Het
Tspan14 A G 14: 40,635,372 (GRCm39) Y175H probably benign Het
Vars2 T C 17: 35,971,332 (GRCm39) T568A probably benign Het
Vmn1r216 T G 13: 23,283,339 (GRCm39) D7E probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zfp281 T C 1: 136,553,250 (GRCm39) V76A probably benign Het
Zfp36l2 T C 17: 84,493,980 (GRCm39) N219S probably damaging Het
Zfp626 T C 7: 27,507,717 (GRCm39) M42T probably benign Het
Zscan21 C T 5: 138,123,359 (GRCm39) P13S 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
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
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'- TCTTGAAGGTAAAGCTTCCTCAGG -3'
(R):5'- TCACTTTCGAAAATTCCGTATCTGG -3'

Sequencing Primer
(F):5'- AAAGCTTCCTCAGGCTTGTG -3'
(R):5'- CCGTATCTGGAAGAGTTACACTTG -3'
Posted On 2018-02-27