Incidental Mutation 'R6867:Flrt2'
ID 535990
Institutional Source Beutler Lab
Gene Symbol Flrt2
Ensembl Gene ENSMUSG00000047414
Gene Name fibronectin leucine rich transmembrane protein 2
Synonyms
MMRRC Submission 045028-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6867 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 95659000-95751989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95746156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 165 (F165L)
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 damaging
Transcript: ENSMUST00000057324
AA Change: F165L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: F165L

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 damaging
Transcript: ENSMUST00000110117
AA Change: F165L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: F165L

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 0.3219 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apold1 T C 6: 134,961,019 (GRCm39) S158P possibly damaging Het
Cep162 A T 9: 87,099,134 (GRCm39) L788* probably null Het
Cyp7b1 T C 3: 18,151,394 (GRCm39) Y273C probably damaging Het
Dlx1 C A 2: 71,361,353 (GRCm39) N122K probably damaging Het
Dock10 A T 1: 80,508,976 (GRCm39) I1605K probably damaging Het
Enox1 T C 14: 77,936,739 (GRCm39) probably null Het
F3 T C 3: 121,523,020 (GRCm39) S77P possibly damaging Het
Fam186a T A 15: 99,843,731 (GRCm39) I838L unknown Het
Gcgr T A 11: 120,427,295 (GRCm39) V135E possibly damaging Het
Gm6741 T C 17: 91,544,339 (GRCm39) L34P probably benign Het
Gna13 T C 11: 109,286,948 (GRCm39) M257T possibly damaging Het
Hsd11b2 G A 8: 106,248,949 (GRCm39) R147H probably benign Het
Hydin A G 8: 111,266,434 (GRCm39) Y2865C probably benign Het
Igdcc3 A G 9: 65,090,320 (GRCm39) N610D probably damaging Het
Ipp T A 4: 116,367,606 (GRCm39) probably null Het
Kdm5d A G Y: 927,425 (GRCm39) T682A probably benign Het
Megf8 A G 7: 25,030,460 (GRCm39) Y471C probably benign Het
Mprip T C 11: 59,640,456 (GRCm39) probably null Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myrfl T A 10: 116,684,187 (GRCm39) R179* probably null Het
Nek1 C A 8: 61,525,364 (GRCm39) Q601K possibly damaging Het
Neurod4 C G 10: 130,106,583 (GRCm39) K230N probably damaging Het
Or1ab2 C T 8: 72,863,707 (GRCm39) T99I possibly damaging Het
Or8u10 A G 2: 85,916,082 (GRCm39) I13T possibly damaging Het
Orc3 A G 4: 34,605,539 (GRCm39) L114P probably damaging Het
Rag1 T C 2: 101,472,292 (GRCm39) D950G probably damaging Het
Rasgrp2 G A 19: 6,463,213 (GRCm39) S504N probably benign Het
Rgl2 A G 17: 34,151,661 (GRCm39) D235G probably benign Het
Slc35e2 A G 4: 155,703,157 (GRCm39) E390G probably benign Het
Slc39a1 T A 3: 90,156,759 (GRCm39) V105E probably damaging Het
Tesk2 T A 4: 116,658,995 (GRCm39) C291S probably damaging Het
Tmco3 T A 8: 13,363,927 (GRCm39) F83Y probably damaging Het
Trim25 T C 11: 88,901,713 (GRCm39) I336T probably benign Het
Ush2a A G 1: 188,643,170 (GRCm39) I4177M probably damaging Het
Veph1 T A 3: 66,162,458 (GRCm39) T67S probably damaging Het
Vmn2r43 A G 7: 8,258,125 (GRCm39) F363L probably benign Het
Vps28 A T 15: 76,506,871 (GRCm39) I109N probably damaging Het
Vps50 A G 6: 3,517,835 (GRCm39) D91G probably benign Het
Wdr20 T C 12: 110,760,133 (GRCm39) F340L probably benign Het
Wdr95 A G 5: 149,504,388 (GRCm39) probably null Het
Zfand6 A G 7: 84,265,122 (GRCm39) V193A probably damaging Het
Zfp703 C A 8: 27,468,668 (GRCm39) P111T probably damaging 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
R2310:Flrt2 UTSW 12 95,746,864 (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
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'- GCAACCAGTTGGATGAGTTCC -3'
(R):5'- GTGAGATGACTGAAGGTACCCTC -3'

Sequencing Primer
(F):5'- AACCAGTTGGATGAGTTCCCCATG -3'
(R):5'- TGACTGAAGGTACCCTCAGCAATG -3'
Posted On 2018-10-18