Mutagenetix > Incidental Mutation

Incidental Mutation 'R5066:Flt4'

388335

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

042656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49500506-49543566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49524990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 612 (N612S)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020617]

AlphaFold

P35917

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020617
AA Change: N612S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: N612S

Domain	Start	End	E-Value	Type
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

0.0717

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (45/45)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	T	11: 70,507,417 (GRCm39)	Y154F	probably benign	Het
Abca5	A	T	11: 110,200,176 (GRCm39)		probably benign	Het
Agtpbp1	T	A	13: 59,622,364 (GRCm39)	D11V	probably damaging	Het
Aldh1a2	G	A	9: 71,188,982 (GRCm39)	A299T	possibly damaging	Het
Apc	T	A	18: 34,449,158 (GRCm39)	V1984D	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Atp13a2	G	A	4: 140,732,449 (GRCm39)	V905M	probably damaging	Het
Atp1a1	C	T	3: 101,489,420 (GRCm39)	G731R	probably damaging	Het
Atrn	T	C	2: 130,836,113 (GRCm39)	V1131A	possibly damaging	Het
Bcl2l13	T	A	6: 120,863,982 (GRCm39)	V312E	possibly damaging	Het
Chic2	A	G	5: 75,187,817 (GRCm39)	V81A	possibly damaging	Het
Drg1	A	T	11: 3,209,353 (GRCm39)	I122N	possibly damaging	Het
Efcab3	A	G	11: 104,611,490 (GRCm39)	D444G	probably benign	Het
Hadhb	T	C	5: 30,369,094 (GRCm39)		probably benign	Het
Heg1	G	T	16: 33,559,041 (GRCm39)	R856S	probably benign	Het
Ice2	A	C	9: 69,315,573 (GRCm39)	N143T	probably benign	Het
Igkv8-21	G	A	6: 70,292,427 (GRCm39)	Q4*	probably null	Het
Lrfn2	T	C	17: 49,403,448 (GRCm39)	S524P	probably damaging	Het
Mndal	C	A	1: 173,703,229 (GRCm39)	A59S	probably damaging	Het
Mpp7	T	C	18: 7,513,002 (GRCm39)	E33G	possibly damaging	Het
Msantd5l	A	G	11: 51,145,251 (GRCm39)	F112S	probably damaging	Het
Nedd4	T	A	9: 72,617,801 (GRCm39)	D187E	probably damaging	Het
Nfx1	A	G	4: 40,991,868 (GRCm39)	I519V	probably benign	Het
Or10p22	G	A	10: 128,826,660 (GRCm39)	R293Q	probably damaging	Het
Or6c204	T	C	10: 129,022,433 (GRCm39)	I286V	possibly damaging	Het
Padi1	T	C	4: 140,556,748 (GRCm39)	N153S	probably damaging	Het
Parp10	A	G	15: 76,125,146 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,900,514 (GRCm39)	M1051K	probably damaging	Het
Slc2a7	T	A	4: 150,244,573 (GRCm39)	M347K	probably damaging	Het
Slc45a2	C	A	15: 11,012,693 (GRCm39)	T232K	probably benign	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Spata13	T	C	14: 60,987,538 (GRCm39)	Y899H	possibly damaging	Het
Sult1c2	T	A	17: 54,281,026 (GRCm39)	I26F	probably damaging	Het
Sybu	A	G	15: 44,541,040 (GRCm39)	C341R	probably damaging	Het
Syk	T	A	13: 52,796,018 (GRCm39)	S538T	possibly damaging	Het
Syne2	A	G	12: 76,013,325 (GRCm39)	T2840A	probably benign	Het
Thsd4	A	G	9: 59,883,615 (GRCm39)	C924R	probably damaging	Het
Tle1	A	G	4: 72,076,504 (GRCm39)	S175P	probably benign	Het
Tmbim4	C	T	10: 120,053,537 (GRCm39)	T112M	probably benign	Het
Tmprss11a	A	G	5: 86,567,859 (GRCm39)		probably null	Het
Tnc	C	A	4: 63,893,466 (GRCm39)	D1698Y	probably damaging	Het
Ypel1	A	G	16: 16,927,539 (GRCm39)	Y18H	probably benign	Het

Other mutations in Flt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ACAAGCAGAGACAGTGTCACTC -3'
(R):5'- CGGACAGGTACTTCTTGTGG -3'

Sequencing Primer
(F):5'- AGAGACAGTGTCACTCGGGTTC -3'
(R):5'- ACAGGTACTTCTTGTGGCAGTG -3'

Posted On

2016-06-06