Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Flrt2'

212245

Institutional Source

Beutler Lab

Gene Symbol

Flrt2

Ensembl Gene

ENSMUSG00000047414

Gene Name

fibronectin leucine rich transmembrane protein 2

Synonyms

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95659000-95751989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95745905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 81 (P81L)

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: P81L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: P81L

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: P81L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: P81L

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

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,945,322 (GRCm39)	E466G	probably damaging	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Acta1	A	T	8: 124,619,900 (GRCm39)	S147T	probably benign	Het
Adh1	G	A	3: 137,994,558 (GRCm39)	V293I	probably benign	Het
Aldh3b3	T	C	19: 4,015,130 (GRCm39)	Y170H	probably damaging	Het
Ank3	A	T	10: 69,658,167 (GRCm39)	T198S	probably damaging	Het
Ankrd12	A	T	17: 66,293,698 (GRCm39)	N578K	possibly damaging	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,576,078 (GRCm39)	I88K	unknown	Het
Col1a1	G	A	11: 94,837,458 (GRCm39)		probably null	Het
Col5a1	A	G	2: 27,850,456 (GRCm39)	T518A	unknown	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Dlec1	T	C	9: 118,931,712 (GRCm39)	S44P	probably damaging	Het
Dock9	T	C	14: 121,862,565 (GRCm39)		probably null	Het
Fbxl9	T	C	8: 106,039,707 (GRCm39)	N556S	probably damaging	Het
Ginm1	A	G	10: 7,650,980 (GRCm39)		probably null	Het
Glis3	T	C	19: 28,508,985 (GRCm39)	N333S	probably damaging	Het
Glo1	T	G	17: 30,815,382 (GRCm39)	E144D	probably benign	Het
Golga1	A	T	2: 38,937,792 (GRCm39)		probably null	Het
H2-Aa	A	G	17: 34,502,207 (GRCm39)	I155T	possibly damaging	Het
Haus5	A	G	7: 30,356,670 (GRCm39)	S479P	probably damaging	Het
Il10ra	A	T	9: 45,167,654 (GRCm39)	V299D	probably benign	Het
Il17re	T	C	6: 113,446,665 (GRCm39)	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Inppl1	T	C	7: 101,472,584 (GRCm39)	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,119,427 (GRCm39)	L304P	probably damaging	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Med15	G	T	16: 17,491,018 (GRCm39)		probably benign	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Mroh1	A	G	15: 76,320,249 (GRCm39)	T1008A	probably benign	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Mug2	C	A	6: 122,048,801 (GRCm39)	H856N	probably benign	Het
Naca	T	A	10: 127,879,590 (GRCm39)		probably benign	Het
Nagk	G	T	6: 83,776,336 (GRCm39)	V184F	probably damaging	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncor2	T	A	5: 125,102,489 (GRCm39)	H2089L	probably benign	Het
Nek6	A	G	2: 38,472,458 (GRCm39)	I261V	probably damaging	Het
Neurod2	G	A	11: 98,218,558 (GRCm39)	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,716,726 (GRCm39)	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,123,335 (GRCm39)	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,189,667 (GRCm39)	V340D	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10x1	A	T	1: 174,196,734 (GRCm39)	I84L	probably benign	Het
Or52l1	A	G	7: 104,830,079 (GRCm39)	I162T	possibly damaging	Het
Or52z15	T	C	7: 103,332,750 (GRCm39)	I265T	probably damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,683 (GRCm39)	W610R	possibly damaging	Het
Pias2	T	A	18: 77,185,139 (GRCm39)	C66*	probably null	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Prpf8	T	G	11: 75,395,570 (GRCm39)	V1899G	probably damaging	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
R3hdm2	T	C	10: 127,334,337 (GRCm39)	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,247,350 (GRCm39)	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 179,925,106 (GRCm39)	R33Q	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Rptn	A	T	3: 93,304,017 (GRCm39)	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,608,102 (GRCm39)	K1010*	probably null	Het
Slc16a10	G	A	10: 39,932,602 (GRCm39)	Q33*	probably null	Het
Slc31a1	C	T	4: 62,303,842 (GRCm39)		probably benign	Het
Slc34a1	A	T	13: 55,548,963 (GRCm39)	K138*	probably null	Het
Slc6a18	T	A	13: 73,818,162 (GRCm39)	E285V	probably benign	Het
Slco6c1	T	A	1: 97,000,707 (GRCm39)	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,279,768 (GRCm39)	S295T	probably damaging	Het
Snx4	A	T	16: 33,104,808 (GRCm39)	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,828,482 (GRCm39)	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tcp10b	A	G	17: 13,300,513 (GRCm39)	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,779,260 (GRCm39)	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,613,831 (GRCm39)	K823R	probably damaging	Het
Trim31	A	G	17: 37,212,692 (GRCm39)	E221G	probably benign	Het
Trim47	T	A	11: 115,998,605 (GRCm39)	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vldlr	T	C	19: 27,218,709 (GRCm39)	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,578,198 (GRCm39)	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,508,218 (GRCm39)	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,201,268 (GRCm39)	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,684,069 (GRCm39)	P13T	probably damaging	Het
Zfp825	A	G	13: 74,629,064 (GRCm39)	C151R	probably damaging	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	95,745,904 (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
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'- TGGCTCATCATTTCCCTGGG -3'
(R):5'- GTCTTCTACTCCCACTGTAGATATGG -3'

Sequencing Primer
(F):5'- CCTGGGACTCTACTTACAAGTG -3'
(R):5'- CTACTCCCACTGTAGATATGGAGTTG -3'

Posted On

2014-06-30