Incidental Mutation 'R2310:Flrt2'
ID 244752
Institutional Source Beutler Lab
Gene Symbol Flrt2
Ensembl Gene ENSMUSG00000047414
Gene Name fibronectin leucine rich transmembrane protein 2
Synonyms
MMRRC Submission 040309-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2310 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 95659000-95751989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95746864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 401 (T401A)
Ref Sequence ENSEMBL: ENSMUSP00000105744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057324] [ENSMUST00000110117]
AlphaFold Q8BLU0
PDB Structure mouse FLRT2 LRR domain in complex with rat Unc5D Ig1 domain [X-RAY DIFFRACTION]
FLRT2 LRR domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000057324
AA Change: T401A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: T401A

DomainStartEndE-ValueType
LRRNT 35 67 1.51e-4 SMART
LRR 107 131 1.29e1 SMART
LRR 132 157 4.32e0 SMART
LRR 159 181 6.78e1 SMART
LRR 182 202 6.97e1 SMART
LRR 203 228 7.16e0 SMART
LRR 252 274 5.26e0 SMART
LRR_TYP 275 298 2.43e-4 SMART
LRRCT 310 361 1.17e-7 SMART
low complexity region 368 400 N/A INTRINSIC
FN3 420 502 5.07e0 SMART
transmembrane domain 542 564 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110117
AA Change: T401A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: T401A

DomainStartEndE-ValueType
LRRNT 35 67 1.51e-4 SMART
LRR 107 131 1.29e1 SMART
LRR 132 157 4.32e0 SMART
LRR 159 181 6.78e1 SMART
LRR 182 202 6.97e1 SMART
LRR 203 228 7.16e0 SMART
LRR 252 274 5.26e0 SMART
LRR_TYP 275 298 2.43e-4 SMART
LRRCT 310 361 1.17e-7 SMART
low complexity region 368 400 N/A INTRINSIC
FN3 420 502 5.07e0 SMART
transmembrane domain 542 564 N/A INTRINSIC
Meta Mutation Damage Score 0.0668 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.5%
Validation Efficiency 100% (39/39)
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 (FLRT) family of cell adhesion molecules, which regulate early embryonic vascular and neural development. The encoded type I transmembrane protein has an extracellular region consisting of an N-terminal leucine-rich repeat domain and a type 3 fibronectin domain, followed by a transmembrane domain and a short C-terminal cytoplasmic tail domain. It functions as both a homophilic cell adhesion molecule and a heterophilic chemorepellent through its interaction with members of the uncoordinated-5 receptor family. Proteolytic removal of the extracellular region controls the migration of neurons in the developing cortex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic, fetal, and postnatel lethality with few mice surviving to weaning due to defects in epicardium, myocardium, and endocardium development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10l A C 4: 140,320,429 (GRCm39) C136W probably damaging Het
Ascc3 T A 10: 50,624,988 (GRCm39) H1625Q probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cpa3 C T 3: 20,281,387 (GRCm39) C173Y probably damaging Het
Cyp2c65 A G 19: 39,081,826 (GRCm39) T451A probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Efhd1 T C 1: 87,192,350 (GRCm39) L60P probably damaging Het
Frmd4a GAA G 2: 4,577,210 (GRCm39) probably null Het
Gas2l2 A G 11: 83,318,265 (GRCm39) V148A possibly damaging Het
Golga5 A G 12: 102,458,420 (GRCm39) E621G probably damaging Het
Gsap A T 5: 21,401,088 (GRCm39) R74* probably null Het
Intu C T 3: 40,608,243 (GRCm39) A85V probably benign Het
Kansl3 T A 1: 36,382,445 (GRCm39) I860F probably damaging Het
Kif23 A G 9: 61,831,426 (GRCm39) S715P probably damaging Het
Map3k8 A T 18: 4,349,001 (GRCm39) C106S probably benign Het
Mcc T C 18: 44,564,433 (GRCm39) E934G probably damaging Het
Mrpl19 A T 6: 81,941,054 (GRCm39) probably null Het
Msl3l2 C A 10: 55,991,421 (GRCm39) R49S probably benign Het
Muc6 T A 7: 141,217,444 (GRCm39) I2410F possibly damaging Het
Or2t6 A G 14: 14,175,836 (GRCm38) V82A probably benign Het
Or4a73 A G 2: 89,420,794 (GRCm39) S222P probably damaging Het
Pip5k1c T G 10: 81,142,142 (GRCm39) S117R probably damaging Het
Ppfia2 T C 10: 106,690,841 (GRCm39) S561P probably damaging Het
Pramel13 A T 4: 144,119,475 (GRCm39) probably null Het
Rassf5 A T 1: 131,172,477 (GRCm39) W131R probably damaging Het
Shq1 C T 6: 100,607,963 (GRCm39) W316* probably null Het
Slc45a4 A G 15: 73,461,409 (GRCm39) Y87H probably damaging Het
Sptbn2 A G 19: 4,768,963 (GRCm39) D32G probably benign Het
Tjp1 C T 7: 64,979,490 (GRCm39) R345Q possibly damaging Het
Tnrc18 C G 5: 142,774,308 (GRCm39) V174L probably damaging Het
Trmt6 G T 2: 132,650,832 (GRCm39) P259T probably damaging Het
Ubap1 T A 4: 41,379,341 (GRCm39) V185E possibly damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnk2 T C 13: 49,204,053 (GRCm39) T1979A probably damaging Het
Xirp2 A G 2: 67,356,591 (GRCm39) D3784G probably benign Het
Zfp119a A T 17: 56,172,440 (GRCm39) Y468N probably benign Het
Other mutations in Flrt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Flrt2 APN 12 95,747,303 (GRCm39) missense probably damaging 1.00
IGL01083:Flrt2 APN 12 95,747,121 (GRCm39) missense probably benign 0.05
IGL01410:Flrt2 APN 12 95,745,966 (GRCm39) missense probably damaging 1.00
IGL01601:Flrt2 APN 12 95,746,369 (GRCm39) missense probably damaging 0.99
IGL01800:Flrt2 APN 12 95,746,462 (GRCm39) missense probably damaging 1.00
IGL01940:Flrt2 APN 12 95,747,012 (GRCm39) missense probably damaging 1.00
IGL02224:Flrt2 APN 12 95,746,802 (GRCm39) missense possibly damaging 0.58
IGL02272:Flrt2 APN 12 95,746,478 (GRCm39) missense probably damaging 1.00
IGL02452:Flrt2 APN 12 95,746,257 (GRCm39) missense probably benign 0.01
R0966:Flrt2 UTSW 12 95,747,075 (GRCm39) missense possibly damaging 0.70
R1066:Flrt2 UTSW 12 95,745,833 (GRCm39) missense probably damaging 1.00
R1218:Flrt2 UTSW 12 95,745,727 (GRCm39) missense probably benign 0.00
R1442:Flrt2 UTSW 12 95,746,979 (GRCm39) missense probably damaging 1.00
R1462:Flrt2 UTSW 12 95,746,112 (GRCm39) missense probably damaging 1.00
R1462:Flrt2 UTSW 12 95,746,112 (GRCm39) missense probably damaging 1.00
R1746:Flrt2 UTSW 12 95,747,566 (GRCm39) missense possibly damaging 0.90
R1842:Flrt2 UTSW 12 95,746,058 (GRCm39) missense probably damaging 1.00
R1901:Flrt2 UTSW 12 95,745,905 (GRCm39) missense probably damaging 1.00
R1901:Flrt2 UTSW 12 95,745,904 (GRCm39) missense probably damaging 1.00
R1959:Flrt2 UTSW 12 95,747,074 (GRCm39) missense probably benign 0.01
R3418:Flrt2 UTSW 12 95,747,378 (GRCm39) missense probably damaging 1.00
R3419:Flrt2 UTSW 12 95,747,378 (GRCm39) missense probably damaging 1.00
R4412:Flrt2 UTSW 12 95,747,047 (GRCm39) missense probably benign
R4617:Flrt2 UTSW 12 95,747,003 (GRCm39) missense possibly damaging 0.96
R4674:Flrt2 UTSW 12 95,747,462 (GRCm39) nonsense probably null
R5001:Flrt2 UTSW 12 95,745,725 (GRCm39) missense probably benign
R5009:Flrt2 UTSW 12 95,746,547 (GRCm39) missense probably damaging 0.98
R5150:Flrt2 UTSW 12 95,745,977 (GRCm39) missense possibly damaging 0.84
R5179:Flrt2 UTSW 12 95,747,121 (GRCm39) missense probably benign 0.05
R5269:Flrt2 UTSW 12 95,746,712 (GRCm39) missense possibly damaging 0.46
R5535:Flrt2 UTSW 12 95,747,200 (GRCm39) missense probably benign 0.08
R6172:Flrt2 UTSW 12 95,746,305 (GRCm39) missense probably damaging 1.00
R6180:Flrt2 UTSW 12 95,746,012 (GRCm39) nonsense probably null
R6867:Flrt2 UTSW 12 95,746,156 (GRCm39) missense probably damaging 1.00
R6986:Flrt2 UTSW 12 95,747,459 (GRCm39) missense probably damaging 1.00
R7379:Flrt2 UTSW 12 95,747,329 (GRCm39) missense possibly damaging 0.68
R7407:Flrt2 UTSW 12 95,746,074 (GRCm39) missense probably damaging 1.00
R7711:Flrt2 UTSW 12 95,747,528 (GRCm39) missense probably damaging 1.00
R8065:Flrt2 UTSW 12 95,747,548 (GRCm39) missense probably benign 0.00
R8109:Flrt2 UTSW 12 95,747,333 (GRCm39) missense probably benign 0.00
R8306:Flrt2 UTSW 12 95,746,076 (GRCm39) missense probably damaging 1.00
R8416:Flrt2 UTSW 12 95,746,331 (GRCm39) missense probably benign 0.10
R9065:Flrt2 UTSW 12 95,746,177 (GRCm39) missense probably damaging 1.00
R9090:Flrt2 UTSW 12 95,745,907 (GRCm39) missense probably benign 0.15
R9271:Flrt2 UTSW 12 95,745,907 (GRCm39) missense probably benign 0.15
R9681:Flrt2 UTSW 12 95,745,425 (GRCm39) start gained probably benign
Z1176:Flrt2 UTSW 12 95,746,333 (GRCm39) missense probably damaging 1.00
Z1176:Flrt2 UTSW 12 95,745,686 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- TTCATGTGCCAAGGTCCTGAG -3'
(R):5'- CCACTGACAATTCGTTCCTGAAC -3'

Sequencing Primer
(F):5'- TGCCAAGGTCCTGAGCAAGTC -3'
(R):5'- GAGACTGTGGCCCATTTTCAC -3'
Posted On 2014-10-30