Mutagenetix > Incidental Mutation

Incidental Mutation 'R6734:Flrt1'

528370

Institutional Source

Beutler Lab

Gene Symbol

Flrt1

Ensembl Gene

ENSMUSG00000047787

Gene Name

fibronectin leucine rich transmembrane protein 1

Synonyms

D630040I23Rik

MMRRC Submission

044852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R6734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7069366-7083094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7073524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 341 (D341G)

Ref Sequence

ENSEMBL: ENSMUSP00000109010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040261] [ENSMUST00000113383]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040261

SMART Domains

Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	25	41	N/A	INTRINSIC
low complexity region	59	74	N/A	INTRINSIC
A1pp	151	281	7.67e-46	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113383
AA Change: D341G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109010
Gene: ENSMUSG00000047787
AA Change: D341G

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
LRRNT	53	85	4.11e-6	SMART
LRR	127	149	2.61e1	SMART
LRR	150	175	4.71e1	SMART
LRR	177	199	1.76e1	SMART
LRR	200	220	7.36e0	SMART
LRR	221	246	1.49e1	SMART
LRR	247	270	9.77e1	SMART
LRR	271	292	1.53e1	SMART
LRR_TYP	293	316	3.55e-6	SMART
LRRCT	328	379	5.19e-9	SMART
low complexity region	381	392	N/A	INTRINSIC
FN3	434	515	1.49e0	SMART
transmembrane domain	556	578	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (52/52)

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 protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Ano6	A	G	15: 95,847,417 (GRCm39)	K554R	probably damaging	Het
Arhgef10	A	T	8: 15,025,053 (GRCm39)	I703F	probably damaging	Het
Bbs1	T	C	19: 4,953,924 (GRCm39)	S80G	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Camk1	C	A	6: 113,311,345 (GRCm39)	R352L	probably benign	Het
Cand1	G	A	10: 119,047,897 (GRCm39)	P531L	possibly damaging	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Col24a1	C	A	3: 145,214,429 (GRCm39)	P1384Q	probably benign	Het
Csmd2	C	A	4: 128,357,606 (GRCm39)	T1689K	probably benign	Het
Cyp26a1	T	A	19: 37,689,660 (GRCm39)	L452H	probably damaging	Het
Dcpp2	T	C	17: 24,119,545 (GRCm39)	Y120H	probably damaging	Het
Dennd6a	G	T	14: 26,329,774 (GRCm39)	R115L	possibly damaging	Het
Eml2	T	A	7: 18,934,432 (GRCm39)	V377E	probably benign	Het
Fam135b	T	C	15: 71,334,629 (GRCm39)	E855G	probably benign	Het
Fam149a	A	T	8: 45,834,478 (GRCm39)	I107K	probably benign	Het
Fam227b	A	T	2: 125,968,896 (GRCm39)	Y59*	probably null	Het
Fbn2	T	C	18: 58,169,032 (GRCm39)	E2249G	probably damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gsdma2	A	G	11: 98,540,416 (GRCm39)	T112A	possibly damaging	Het
Klhl24	T	C	16: 19,926,279 (GRCm39)	V269A	probably damaging	Het
Lcorl	A	G	5: 45,890,839 (GRCm39)	S505P	probably damaging	Het
Liph	A	G	16: 21,802,707 (GRCm39)	S121P	probably damaging	Het
Lrp4	G	A	2: 91,316,242 (GRCm39)	V787M	possibly damaging	Het
Lrrd1	A	C	5: 3,900,226 (GRCm39)	D177A	possibly damaging	Het
Mbd1	G	A	18: 74,409,114 (GRCm39)	R399H	probably damaging	Het
Naa25	C	T	5: 121,576,888 (GRCm39)	T879M	possibly damaging	Het
Naa35	T	G	13: 59,756,005 (GRCm39)	L147R	possibly damaging	Het
Ninl	C	A	2: 150,787,003 (GRCm39)		probably null	Het
Nrap	T	C	19: 56,333,941 (GRCm39)	D972G	probably damaging	Het
Or9k7	A	G	10: 130,046,126 (GRCm39)	F291S	probably benign	Het
Pdzd2	T	C	15: 12,592,551 (GRCm39)	E31G	probably damaging	Het
Plec	C	T	15: 76,078,603 (GRCm39)	E41K	probably damaging	Het
Plxnb1	A	T	9: 108,937,988 (GRCm39)	K1245*	probably null	Het
Ppfia1	T	C	7: 144,032,790 (GRCm39)	T1263A	probably damaging	Het
Prex2	G	A	1: 11,150,283 (GRCm39)	V152I	probably damaging	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prss3l	T	C	6: 41,422,321 (GRCm39)	Y28C	probably damaging	Het
Prune2	T	G	19: 16,981,097 (GRCm39)	F85V	probably damaging	Het
Rrp1b	T	G	17: 32,274,278 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,864,609 (GRCm39)	T158A	probably benign	Het
Sema6a	G	A	18: 47,412,236 (GRCm39)	T526I	probably benign	Het
Shank1	G	T	7: 44,003,110 (GRCm39)	A1610S	probably benign	Het
Slc24a4	T	C	12: 102,185,259 (GRCm39)	V123A	probably damaging	Het
Stk11ip	T	C	1: 75,509,013 (GRCm39)	V714A	probably benign	Het
Tas1r3	T	C	4: 155,945,257 (GRCm39)	T655A	probably damaging	Het
Tns2	G	T	15: 102,011,551 (GRCm39)	L10F	probably damaging	Het
Trmt10c	A	G	16: 55,854,489 (GRCm39)	V382A	probably benign	Het
Unc45a	G	C	7: 79,986,746 (GRCm39)	T149R	probably damaging	Het
Zhx3	T	G	2: 160,623,640 (GRCm39)	I176L	probably damaging	Het
Zscan12	T	A	13: 21,552,966 (GRCm39)	C263*	probably null	Het

Other mutations in Flrt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Flrt1	APN	19	7,074,277 (GRCm39)	missense	probably damaging	1.00
IGL01082:Flrt1	APN	19	7,073,339 (GRCm39)	missense	probably benign
IGL02535:Flrt1	APN	19	7,074,098 (GRCm39)	missense	probably benign	0.00
R0240:Flrt1	UTSW	19	7,074,475 (GRCm39)	intron	probably benign
R0240:Flrt1	UTSW	19	7,074,475 (GRCm39)	intron	probably benign
R0403:Flrt1	UTSW	19	7,073,284 (GRCm39)	missense	probably benign	0.01
R0645:Flrt1	UTSW	19	7,074,508 (GRCm39)	intron	probably benign
R0677:Flrt1	UTSW	19	7,073,544 (GRCm39)	nonsense	probably null
R1818:Flrt1	UTSW	19	7,072,711 (GRCm39)	missense	probably damaging	1.00
R2191:Flrt1	UTSW	19	7,073,194 (GRCm39)	missense	probably damaging	0.99
R2228:Flrt1	UTSW	19	7,072,723 (GRCm39)	missense	probably damaging	1.00
R2471:Flrt1	UTSW	19	7,073,856 (GRCm39)	missense	probably damaging	1.00
R4978:Flrt1	UTSW	19	7,074,241 (GRCm39)	missense	probably damaging	1.00
R5460:Flrt1	UTSW	19	7,073,105 (GRCm39)	missense	probably damaging	0.99
R5630:Flrt1	UTSW	19	7,073,830 (GRCm39)	missense	probably damaging	1.00
R6326:Flrt1	UTSW	19	7,073,974 (GRCm39)	missense	probably damaging	1.00
R6905:Flrt1	UTSW	19	7,072,757 (GRCm39)	nonsense	probably null
R7239:Flrt1	UTSW	19	7,073,329 (GRCm39)	missense	probably benign	0.12
R7799:Flrt1	UTSW	19	7,073,229 (GRCm39)	missense	possibly damaging	0.78
R8168:Flrt1	UTSW	19	7,074,002 (GRCm39)	missense	probably damaging	1.00
X0024:Flrt1	UTSW	19	7,073,114 (GRCm39)	missense	probably damaging	1.00
X0062:Flrt1	UTSW	19	7,074,244 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTGAGGGTAAACAGAGAGCCC -3'
(R):5'- ATGCCATCAGTCACATTCCC -3'

Sequencing Primer
(F):5'- TAAACAGAGAGCCCTGGGGTG -3'
(R):5'- CTACAACACCCTGGCCAAGATG -3'

Posted On

2018-07-24