Mutagenetix > Incidental Mutation

Incidental Mutation 'R1842:Flrt2'

205840

Institutional Source

Beutler Lab

Gene Symbol

Flrt2

Ensembl Gene

ENSMUSG00000047414

Gene Name

fibronectin leucine rich transmembrane protein 2

Synonyms

MMRRC Submission

039867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95659000-95751989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95746058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 132 (L132P)

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: L132P

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

SMART Domains

Protein: ENSMUSP00000062171
Gene: ENSMUSG00000047414
AA Change: L132P

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: L132P

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

SMART Domains

Protein: ENSMUSP00000105744
Gene: ENSMUSG00000047414
AA Change: L132P

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: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,087,865 (GRCm39)	N1087K	probably benign	Het
Abcc3	G	A	11: 94,250,438 (GRCm39)	T921I	probably benign	Het
Abr	T	A	11: 76,399,812 (GRCm39)	I4F	probably damaging	Het
Adcy10	T	A	1: 165,330,812 (GRCm39)	V25D	probably damaging	Het
Ahnak	T	A	19: 8,983,231 (GRCm39)	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,773,231 (GRCm39)		noncoding transcript	Het
Apob	C	G	12: 8,061,559 (GRCm39)	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,230,822 (GRCm39)	G11W	probably damaging	Het
Ccdc110	A	T	8: 46,393,605 (GRCm39)	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,514,806 (GRCm39)	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,188,324 (GRCm39)	E566G	probably benign	Het
Cenpm	T	C	15: 82,123,565 (GRCm39)	S111G	probably benign	Het
Cep55	A	G	19: 38,046,348 (GRCm39)	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,291,585 (GRCm39)	L190S	probably damaging	Het
Dhh	T	C	15: 98,792,441 (GRCm39)		probably null	Het
Dst	A	G	1: 34,203,200 (GRCm39)	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,030,396 (GRCm39)	L164F	unknown	Het
Efcab5	A	G	11: 77,025,701 (GRCm39)	V538A	probably benign	Het
Egflam	A	G	15: 7,333,422 (GRCm39)	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,775,958 (GRCm39)	C31S	probably damaging	Het
Eif2d	C	A	1: 131,098,797 (GRCm39)	Q532K	probably damaging	Het
Elf3	T	C	1: 135,184,531 (GRCm39)	D175G	possibly damaging	Het
F5	T	C	1: 164,012,129 (GRCm39)	V449A	probably damaging	Het
Fam110a	A	T	2: 151,811,954 (GRCm39)	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,768,464 (GRCm39)	D608G	probably damaging	Het
Frg2f1	A	T	4: 119,388,277 (GRCm39)	V74D	possibly damaging	Het
Gad1	G	T	2: 70,404,597 (GRCm39)	E162D	probably benign	Het
Glb1l	A	G	1: 75,177,104 (GRCm39)	V444A	probably damaging	Het
Gm10770	G	A	2: 150,021,076 (GRCm39)	T147I	probably damaging	Het
Gm43302	T	C	5: 105,425,602 (GRCm39)	I276V	probably benign	Het
Greb1	T	C	12: 16,746,244 (GRCm39)	H1314R	probably damaging	Het
Hapln2	A	G	3: 87,931,308 (GRCm39)	V69A	probably damaging	Het
Hcn1	T	C	13: 118,112,544 (GRCm39)	I836T	probably damaging	Het
Hspa5	A	G	2: 34,665,815 (GRCm39)	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,410,631 (GRCm39)	I194N	probably damaging	Het
Kansl3	A	G	1: 36,390,825 (GRCm39)	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798 (GRCm39)	S716L	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,409,337 (GRCm39)	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,464,152 (GRCm39)	D15G	probably benign	Het
Map4k1	T	C	7: 28,686,588 (GRCm39)	L170P	probably damaging	Het
Mast3	A	G	8: 71,233,037 (GRCm39)	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,715,686 (GRCm39)	L6I	unknown	Het
Mfsd14a	A	T	3: 116,426,057 (GRCm39)	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,228,546 (GRCm39)	I642V	probably damaging	Het
Necap1	A	G	6: 122,851,547 (GRCm39)	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,394,258 (GRCm39)	E723K	probably damaging	Het
Nsun3	A	T	16: 62,596,755 (GRCm39)	L121H	probably damaging	Het
Nsun6	A	T	2: 15,014,288 (GRCm39)	M284K	probably damaging	Het
Nutf2	T	C	8: 106,603,242 (GRCm39)		probably null	Het
Odad2	A	T	18: 7,223,551 (GRCm39)	D497E	probably benign	Het
Or1j20	A	T	2: 36,759,601 (GRCm39)	N8Y	probably damaging	Het
Or5d38	A	T	2: 87,954,471 (GRCm39)	M286K	probably damaging	Het
Pacs1	T	C	19: 5,205,912 (GRCm39)	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381 (GRCm39)		probably benign	Het
Rab38	G	A	7: 88,099,730 (GRCm39)	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,675,543 (GRCm39)	E206V	probably damaging	Het
Saxo5	T	A	8: 3,533,668 (GRCm39)	F295L	possibly damaging	Het
Scube3	G	A	17: 28,384,063 (GRCm39)	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,762,982 (GRCm39)	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,681,891 (GRCm39)	S152P	possibly damaging	Het
Slit1	A	T	19: 41,709,477 (GRCm39)		probably null	Het
Spata31d1e	T	C	13: 59,890,320 (GRCm39)	Y82C	probably damaging	Het
Spta1	A	G	1: 174,023,513 (GRCm39)	K640R	probably benign	Het
Svil	A	G	18: 5,062,373 (GRCm39)	T898A	probably damaging	Het
Timm44	A	G	8: 4,310,510 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,447,650 (GRCm39)	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,706,649 (GRCm39)	V493D	possibly damaging	Het
Yeats2	T	C	16: 19,989,988 (GRCm39)	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,466,558 (GRCm39)	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,525,301 (GRCm39)	K341Q	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
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
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'- AGGGCGTAACCGTACTCTAC -3'
(R):5'- AGGCCATGTCTGATATGACGG -3'

Sequencing Primer
(F):5'- GCGTAACCGTACTCTACCTCCAC -3'
(R):5'- CCATGTCTGATATGACGGCAATTCG -3'

Posted On

2014-06-23