Mutagenetix > Incidental Mutation

Incidental Mutation 'R5009:Flrt2'

390380

Institutional Source

Beutler Lab

Gene Symbol

Flrt2

Ensembl Gene

ENSMUSG00000047414

Gene Name

fibronectin leucine rich transmembrane protein 2

Synonyms

MMRRC Submission

042600-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95659000-95751989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95746547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 295 (V295A)

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: V295A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: V295A

Domain	Start	End	E-Value	Type
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: V295A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: V295A

Domain	Start	End	E-Value	Type
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

0.3133

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (91/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,487,426 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,282,932 (GRCm39)	Y5H	probably damaging	Het
Atosa	G	A	9: 74,916,171 (GRCm39)	E257K	probably damaging	Het
Atp7b	A	G	8: 22,517,714 (GRCm39)	S375P	possibly damaging	Het
BC106179	C	A	16: 23,043,192 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,776,787 (GRCm39)	N411K	probably benign	Het
Cacna1d	A	G	14: 29,801,289 (GRCm39)	V1386A	probably damaging	Het
Cuzd1	T	A	7: 130,913,252 (GRCm39)	Y455F	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dot1l	G	T	10: 80,607,030 (GRCm39)	R108L	probably benign	Het
Dysf	T	C	6: 84,128,968 (GRCm39)	S1413P	probably damaging	Het
Eea1	C	A	10: 95,846,883 (GRCm39)	R388S	probably benign	Het
Elavl1	C	T	8: 4,351,723 (GRCm39)	R131Q	probably benign	Het
Erich6b	A	G	14: 75,902,596 (GRCm39)	T138A	possibly damaging	Het
Esr1	C	T	10: 4,662,394 (GRCm39)	T4I	probably damaging	Het
Ets1	T	C	9: 32,644,295 (GRCm39)	S152P	possibly damaging	Het
Fcsk	C	T	8: 111,614,462 (GRCm39)	C609Y	probably damaging	Het
Gm13196	A	G	2: 4,705,149 (GRCm39)		noncoding transcript	Het
Gm5965	T	A	16: 88,575,312 (GRCm39)	Y162N	probably benign	Het
Gm7853	A	T	14: 35,811,466 (GRCm39)		noncoding transcript	Het
Gm8126	C	T	14: 43,119,065 (GRCm39)	A178V	probably benign	Het
Gpihbp1	A	T	15: 75,469,570 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,774,858 (GRCm39)	T180A	possibly damaging	Het
Gsdme	C	T	6: 50,222,992 (GRCm39)	V108M	possibly damaging	Het
Gtpbp4	T	C	13: 9,039,102 (GRCm39)	Y157C	probably benign	Het
Gvin3	A	G	7: 106,200,767 (GRCm39)		noncoding transcript	Het
Hivep1	T	A	13: 42,312,229 (GRCm39)	F1490I	probably benign	Het
Il17ra	T	C	6: 120,459,168 (GRCm39)	V773A	probably benign	Het
Kctd8	T	A	5: 69,268,076 (GRCm39)	T345S	probably benign	Het
Kdm3b	T	C	18: 34,957,763 (GRCm39)	S1243P	probably benign	Het
Klhdc1	T	C	12: 69,298,712 (GRCm39)	V99A	possibly damaging	Het
Lars1	T	G	18: 42,354,612 (GRCm39)	E778D	probably benign	Het
Map7	C	T	10: 20,137,664 (GRCm39)	R279*	probably null	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Mtbp	A	G	15: 55,466,583 (GRCm39)	D532G	probably benign	Het
Mylk	G	A	16: 34,719,877 (GRCm39)	V597I	probably benign	Het
Necab1	A	G	4: 14,947,503 (GRCm39)		probably benign	Het
Nisch	C	T	14: 30,909,186 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,013,531 (GRCm39)	D573G	probably benign	Het
Noct	C	A	3: 51,155,482 (GRCm39)	N83K	probably damaging	Het
Or10am5	A	G	7: 6,517,546 (GRCm39)	L294P	probably damaging	Het
Or1b1	C	T	2: 36,995,467 (GRCm39)	R65H	possibly damaging	Het
Or2a12	C	A	6: 42,904,367 (GRCm39)	D67E	probably damaging	Het
Or2ad1	T	C	13: 21,326,435 (GRCm39)	N264S	probably benign	Het
Or52n4b	A	G	7: 108,144,055 (GRCm39)	I106V	probably benign	Het
Or6b13	C	T	7: 139,781,751 (GRCm39)	A311T	probably benign	Het
Or6c201	T	C	10: 128,969,484 (GRCm39)	H51R	probably benign	Het
Osgepl1	T	A	1: 53,357,339 (GRCm39)	V167D	probably damaging	Het
Pabpc6	T	C	17: 9,887,489 (GRCm39)	E354G	probably damaging	Het
Pgghg	A	C	7: 140,523,303 (GRCm39)	D194A	probably benign	Het
Podnl1	A	T	8: 84,852,887 (GRCm39)	H19L	probably benign	Het
Pold1	G	T	7: 44,183,326 (GRCm39)	A977E	probably benign	Het
Poldip3	T	C	15: 83,017,395 (GRCm39)	T227A	probably damaging	Het
Prss43	A	G	9: 110,656,489 (GRCm39)	S59G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,731 (GRCm39)	I526N	probably benign	Het
Ptprb	T	C	10: 116,184,032 (GRCm39)	S1615P	possibly damaging	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rab15	T	C	12: 76,847,341 (GRCm39)	E114G	probably damaging	Het
Rcvrn	A	G	11: 67,586,550 (GRCm39)	E103G	probably benign	Het
Repin1	T	A	6: 48,571,779 (GRCm39)		probably benign	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rtkn2	T	C	10: 67,877,239 (GRCm39)	V433A	probably benign	Het
Runx1t1	T	C	4: 13,865,231 (GRCm39)	I314T	possibly damaging	Het
Serpinb9c	A	C	13: 33,338,414 (GRCm39)	S190A	probably benign	Het
Shank2	C	A	7: 143,623,916 (GRCm39)	H300Q	probably benign	Het
Slc4a4	A	G	5: 89,297,157 (GRCm39)		probably null	Het
Slc5a8	T	C	10: 88,745,516 (GRCm39)	S375P	probably benign	Het
Spns3	C	A	11: 72,428,027 (GRCm39)	W251L	probably damaging	Het
Spta1	A	G	1: 174,067,789 (GRCm39)	N2072S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,016 (GRCm39)	V1351A	probably benign	Het
Sytl2	A	T	7: 90,030,523 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,568,435 (GRCm39)	D1374G	probably benign	Het
Tlr1	A	G	5: 65,083,567 (GRCm39)	S337P	probably damaging	Het
Trp63	A	T	16: 25,686,977 (GRCm39)	D303V	probably damaging	Het
Ttn	G	A	2: 76,683,250 (GRCm39)		probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Vmn2r77	T	G	7: 86,451,015 (GRCm39)	D300E	possibly damaging	Het
Zfp729a	A	T	13: 67,768,365 (GRCm39)	N621K	probably benign	Het

Other mutations in Flrt2

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

Sequencing Primer
(F):5'- GGAATTTTCTATAGTCCGGAACTCGC -3'
(R):5'- TCCCTGACAGCCATCCCG -3'

Posted On

2016-06-06