Incidental Mutation 'R0973:Flt4'
ID 82962
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 039102-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0973 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 49500506-49543566 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 49527166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020617]
AlphaFold P35917
Predicted Effect probably benign
Transcript: ENSMUST00000020617
SMART Domains Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (70/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Asic5 C T 3: 81,915,755 (GRCm39) probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cd46 T C 1: 194,724,300 (GRCm39) *366W probably null Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Cep152 A G 2: 125,436,819 (GRCm39) S574P probably benign Het
Cep250 A G 2: 155,806,209 (GRCm39) probably benign Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Dnah9 A T 11: 65,896,663 (GRCm39) probably null Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Gm12500 T C 3: 107,993,792 (GRCm39) probably null Het
Gm6327 T C 16: 12,578,977 (GRCm39) noncoding transcript Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Ift172 T C 5: 31,415,262 (GRCm39) probably benign Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Khsrp T C 17: 57,332,576 (GRCm39) T235A probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lgals8 A T 13: 12,466,276 (GRCm39) probably benign Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Mcpt8 T C 14: 56,321,257 (GRCm39) probably benign Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Naa25 T C 5: 121,576,779 (GRCm39) probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Pld2 T C 11: 70,447,907 (GRCm39) W857R probably damaging Het
Pm20d2 T A 4: 33,174,734 (GRCm39) probably benign Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Skint1 T G 4: 111,885,412 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Spag7 A G 11: 70,560,008 (GRCm39) probably benign Het
Sri A T 5: 8,109,381 (GRCm39) Q55L probably damaging Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Trpv6 T A 6: 41,602,122 (GRCm39) T396S probably benign Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Usp24 A G 4: 106,270,875 (GRCm39) probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H probably damaging 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
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
R5686:Flt4 UTSW 11 49,521,430 (GRCm39) missense probably benign 0.00
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'- ACCCAGAACTTGTGCCACAGGATG -3'
(R):5'- ATGTGCTGCTAACCCTACAGAGCC -3'

Sequencing Primer
(F):5'- AAGCTCTTTGGGACAGGTCAC -3'
(R):5'- TAACCCTACAGAGCCAGAGG -3'
Posted On 2013-11-08