Incidental Mutation 'R5686:Flt4'
ID 443372
Institutional Source Beutler Lab
Gene Symbol Flt4
Ensembl Gene ENSMUSG00000020357
Gene Name FMS-like tyrosine kinase 4
Synonyms VEGFR3, VEGFR-3, Flt-4
MMRRC Submission 043319-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5686 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 49500506-49543566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49521430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 450 (V450A)
Ref Sequence ENSEMBL: ENSMUSP00000020617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020617]
AlphaFold P35917
Predicted Effect probably benign
Transcript: ENSMUST00000020617
AA Change: V450A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: V450A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 36 133 3.73e0 SMART
IG 237 328 3.15e-10 SMART
IG 341 419 4.5e0 SMART
IG 430 552 8.46e-2 SMART
IGc2 569 660 1.29e-6 SMART
IGc2 690 755 2.48e-17 SMART
transmembrane domain 776 798 N/A INTRINSIC
TyrKc 845 1169 2.2e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152253
Meta Mutation Damage Score 0.1212 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,451,433 (GRCm39) E839G possibly damaging Het
Adgrf3 T A 5: 30,402,304 (GRCm39) T575S probably damaging Het
Akap9 T A 5: 4,021,926 (GRCm39) C1158S probably benign Het
Arhgap39 A G 15: 76,610,833 (GRCm39) F926L probably damaging Het
BC035947 G T 1: 78,474,567 (GRCm39) T655K probably benign Het
Bcas1 T C 2: 170,248,730 (GRCm39) T64A probably benign Het
Bltp1 T A 3: 36,971,809 (GRCm39) F514Y probably benign Het
Brca2 A G 5: 150,464,369 (GRCm39) K1378E probably benign Het
Card6 A T 15: 5,130,435 (GRCm39) N320K probably damaging Het
Ccdc3 A T 2: 5,142,871 (GRCm39) I43F probably damaging Het
Cd200r1 T C 16: 44,610,527 (GRCm39) S212P probably damaging Het
Cdh8 T C 8: 99,759,854 (GRCm39) I632V probably benign Het
Col25a1 A G 3: 130,357,803 (GRCm39) E477G probably damaging Het
Cpne5 A T 17: 29,402,991 (GRCm39) C215S possibly damaging Het
Crim1 T A 17: 78,681,512 (GRCm39) S989T possibly damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Dync1h1 T A 12: 110,582,838 (GRCm39) N340K probably benign Het
Eif4e2 G A 1: 87,153,960 (GRCm39) probably null Het
Ephb6 G T 6: 41,596,638 (GRCm39) R895L possibly damaging Het
Esrrg T A 1: 187,882,395 (GRCm39) H217Q probably benign Het
Fgl1 T A 8: 41,653,594 (GRCm39) K100* probably null Het
G6pc2 A T 2: 69,051,128 (GRCm39) I74L probably benign Het
Gabrr1 T C 4: 33,161,684 (GRCm39) M336T probably damaging Het
Gli1 T A 10: 127,173,305 (GRCm39) T118S probably benign Het
Gm5435 A T 12: 82,542,800 (GRCm39) noncoding transcript Het
Got1l1 A G 8: 27,688,087 (GRCm39) L314P probably damaging Het
Hk3 T A 13: 55,154,626 (GRCm39) I740F probably damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Igsf9b A G 9: 27,235,475 (GRCm39) T508A probably damaging Het
Il16 T A 7: 83,297,936 (GRCm39) N431I probably benign Het
Lax1 G A 1: 133,607,914 (GRCm39) P276S probably damaging Het
Lrp2 A T 2: 69,341,405 (GRCm39) V925E possibly damaging Het
Lrp3 T A 7: 34,902,910 (GRCm39) T479S possibly damaging Het
Metrn G A 17: 26,014,191 (GRCm39) R212C probably damaging Het
Mlip A C 9: 77,254,975 (GRCm39) probably null Het
Mmp24 C T 2: 155,641,697 (GRCm39) T175I probably damaging Het
N6amt1 A T 16: 87,151,223 (GRCm39) D28V probably damaging Het
Or1e21 A T 11: 73,344,677 (GRCm39) Y120* probably null Het
Or4f4b G A 2: 111,314,488 (GRCm39) G238R probably damaging Het
Or5p52 A G 7: 107,502,119 (GRCm39) H65R probably damaging Het
Or5p66 G T 7: 107,885,949 (GRCm39) A128E probably damaging Het
Or6d15 T C 6: 116,559,890 (GRCm39) T6A probably benign Het
Or8b12i T A 9: 20,082,265 (GRCm39) I201F possibly damaging Het
Pcdh17 T A 14: 84,770,433 (GRCm39) N970K probably damaging Het
Pdzrn3 T C 6: 101,128,389 (GRCm39) Y759C probably damaging Het
Pkd2l2 T C 18: 34,558,290 (GRCm39) L323P probably damaging Het
Psg21 G T 7: 18,386,183 (GRCm39) probably benign Het
Rest T C 5: 77,429,573 (GRCm39) V664A probably benign Het
Sco2 G A 15: 89,256,175 (GRCm39) R160* probably null Het
Sfswap T A 5: 129,591,882 (GRCm39) S300T probably damaging Het
Slc5a10 A T 11: 61,569,392 (GRCm39) M329K probably benign Het
Slco1a5 G A 6: 142,182,033 (GRCm39) P564S probably damaging Het
Stk38 A G 17: 29,201,103 (GRCm39) F191S probably damaging Het
Svep1 T A 4: 58,072,826 (GRCm39) Y2161F possibly damaging Het
Tada2a G A 11: 83,970,428 (GRCm39) T441M possibly damaging Het
Tg T A 15: 66,560,738 (GRCm39) N1033K probably benign Het
Thoc3 A T 13: 54,615,686 (GRCm39) I126N probably damaging Het
Tnc T C 4: 63,925,967 (GRCm39) probably null Het
Tnc A T 4: 63,927,032 (GRCm39) D831E possibly damaging Het
Uhmk1 A T 1: 170,038,787 (GRCm39) V100E probably damaging Het
Usp43 G A 11: 67,812,742 (GRCm39) probably benign Het
Vmn2r90 A T 17: 17,933,712 (GRCm39) Y424F probably benign Het
Vps33a C T 5: 123,685,064 (GRCm39) probably null Het
Xirp2 A T 2: 67,312,642 (GRCm39) K37I probably damaging Het
Zfp106 A T 2: 120,363,988 (GRCm39) probably null Het
Zfp748 A T 13: 67,690,647 (GRCm39) C204* probably null Het
Zfp998 T C 13: 66,579,722 (GRCm39) R254G probably benign Het
Other mutations in Flt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Flt4 APN 11 49,526,088 (GRCm39) missense probably damaging 1.00
IGL01140:Flt4 APN 11 49,525,770 (GRCm39) nonsense probably null
IGL01360:Flt4 APN 11 49,534,333 (GRCm39) missense probably benign 0.04
IGL01386:Flt4 APN 11 49,528,162 (GRCm39) missense probably benign 0.00
IGL01769:Flt4 APN 11 49,525,998 (GRCm39) splice site probably benign
IGL02189:Flt4 APN 11 49,516,830 (GRCm39) missense probably damaging 1.00
IGL02206:Flt4 APN 11 49,521,217 (GRCm39) missense probably damaging 0.98
IGL02324:Flt4 APN 11 49,536,822 (GRCm39) missense probably benign 0.13
IGL02433:Flt4 APN 11 49,521,400 (GRCm39) missense probably benign 0.01
IGL03009:Flt4 APN 11 49,517,951 (GRCm39) missense probably benign 0.02
IGL03035:Flt4 APN 11 49,536,724 (GRCm39) nonsense probably null
IGL03059:Flt4 APN 11 49,533,134 (GRCm39) missense probably damaging 0.97
IGL03350:Flt4 APN 11 49,525,620 (GRCm39) nonsense probably null
PIT4802001:Flt4 UTSW 11 49,523,996 (GRCm39) missense probably benign
R0360:Flt4 UTSW 11 49,527,818 (GRCm39) missense probably benign 0.02
R0364:Flt4 UTSW 11 49,527,818 (GRCm39) missense probably benign 0.02
R0386:Flt4 UTSW 11 49,535,213 (GRCm39) missense probably benign 0.00
R0395:Flt4 UTSW 11 49,521,170 (GRCm39) missense probably benign 0.00
R0600:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R0666:Flt4 UTSW 11 49,516,274 (GRCm39) missense possibly damaging 0.53
R0720:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R0734:Flt4 UTSW 11 49,517,544 (GRCm39) missense possibly damaging 0.67
R0973:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1013:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1103:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1104:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1162:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1241:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1401:Flt4 UTSW 11 49,527,166 (GRCm39) splice site probably benign
R1487:Flt4 UTSW 11 49,523,971 (GRCm39) missense possibly damaging 0.86
R1546:Flt4 UTSW 11 49,522,808 (GRCm39) missense probably benign 0.03
R1999:Flt4 UTSW 11 49,536,824 (GRCm39) missense probably benign 0.00
R2110:Flt4 UTSW 11 49,516,131 (GRCm39) missense probably benign 0.03
R2150:Flt4 UTSW 11 49,536,824 (GRCm39) missense probably benign 0.00
R2189:Flt4 UTSW 11 49,526,525 (GRCm39) missense probably benign 0.24
R2217:Flt4 UTSW 11 49,515,555 (GRCm39) missense probably benign 0.00
R2218:Flt4 UTSW 11 49,515,555 (GRCm39) missense probably benign 0.00
R2249:Flt4 UTSW 11 49,536,786 (GRCm39) missense possibly damaging 0.66
R2402:Flt4 UTSW 11 49,528,646 (GRCm39) missense possibly damaging 0.82
R3508:Flt4 UTSW 11 49,524,941 (GRCm39) missense probably damaging 0.99
R3974:Flt4 UTSW 11 49,527,567 (GRCm39) missense probably damaging 0.99
R4168:Flt4 UTSW 11 49,521,400 (GRCm39) missense probably benign 0.01
R4700:Flt4 UTSW 11 49,517,271 (GRCm39) intron probably benign
R4701:Flt4 UTSW 11 49,517,635 (GRCm39) missense possibly damaging 0.49
R4714:Flt4 UTSW 11 49,518,034 (GRCm39) missense probably damaging 0.99
R4817:Flt4 UTSW 11 49,516,242 (GRCm39) missense probably damaging 0.98
R4921:Flt4 UTSW 11 49,517,970 (GRCm39) missense probably damaging 0.98
R5066:Flt4 UTSW 11 49,524,990 (GRCm39) missense possibly damaging 0.62
R5095:Flt4 UTSW 11 49,517,986 (GRCm39) missense possibly damaging 0.95
R5166:Flt4 UTSW 11 49,524,084 (GRCm39) splice site probably null
R5245:Flt4 UTSW 11 49,541,861 (GRCm39) frame shift probably null
R5250:Flt4 UTSW 11 49,521,227 (GRCm39) missense possibly damaging 0.88
R5400:Flt4 UTSW 11 49,541,861 (GRCm39) frame shift probably null
R5401:Flt4 UTSW 11 49,541,861 (GRCm39) frame shift probably null
R5402:Flt4 UTSW 11 49,541,861 (GRCm39) frame shift probably null
R5527:Flt4 UTSW 11 49,525,581 (GRCm39) missense probably damaging 1.00
R5766:Flt4 UTSW 11 49,517,513 (GRCm39) missense possibly damaging 0.75
R5996:Flt4 UTSW 11 49,541,897 (GRCm39) missense probably damaging 1.00
R6037:Flt4 UTSW 11 49,527,867 (GRCm39) missense probably damaging 1.00
R6037:Flt4 UTSW 11 49,527,867 (GRCm39) missense probably damaging 1.00
R6352:Flt4 UTSW 11 49,534,333 (GRCm39) missense probably benign 0.04
R6361:Flt4 UTSW 11 49,521,405 (GRCm39) missense probably benign 0.00
R6574:Flt4 UTSW 11 49,516,199 (GRCm39) missense probably benign
R7205:Flt4 UTSW 11 49,525,125 (GRCm39) missense probably null 0.78
R7216:Flt4 UTSW 11 49,525,508 (GRCm39) missense possibly damaging 0.73
R7257:Flt4 UTSW 11 49,516,836 (GRCm39) missense probably benign 0.22
R7457:Flt4 UTSW 11 49,521,155 (GRCm39) missense possibly damaging 0.89
R7559:Flt4 UTSW 11 49,535,198 (GRCm39) missense possibly damaging 0.50
R8181:Flt4 UTSW 11 49,525,723 (GRCm39) missense probably damaging 0.99
R8286:Flt4 UTSW 11 49,528,089 (GRCm39) missense probably benign 0.00
R8885:Flt4 UTSW 11 49,527,160 (GRCm39) splice site probably benign
R9051:Flt4 UTSW 11 49,527,598 (GRCm39) missense probably benign 0.02
R9104:Flt4 UTSW 11 49,525,161 (GRCm39) missense probably damaging 1.00
R9112:Flt4 UTSW 11 49,524,064 (GRCm39) missense probably damaging 1.00
R9301:Flt4 UTSW 11 49,516,241 (GRCm39) missense possibly damaging 0.92
R9721:Flt4 UTSW 11 49,535,260 (GRCm39) critical splice donor site probably null
X0017:Flt4 UTSW 11 49,517,560 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TGGTGAATGGTATAGCCCCG -3'
(R):5'- AAGGAGCATGCCTCATTTGG -3'

Sequencing Primer
(F):5'- CGAAGGACAGGGGAAGGGATG -3'
(R):5'- AGCTTGGGAAATTTGTCTCCC -3'
Posted On 2016-11-09