Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Flrt1'

239886

Institutional Source

Beutler Lab

Gene Symbol

Flrt1

Ensembl Gene

ENSMUSG00000047787

Gene Name

fibronectin leucine rich transmembrane protein 1

Synonyms

D630040I23Rik

MMRRC Submission

040229-MU

Accession Numbers

Essential gene?

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

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7069366-7083094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7072723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 608 (D608V)

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

probably damaging
Transcript: ENSMUST00000113383
AA Change: D608V

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

SMART Domains

Protein: ENSMUSP00000109010
Gene: ENSMUSG00000047787
AA Change: D608V

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,559,935 (GRCm39)	T242A	probably benign	Het
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 4,031,133 (GRCm39)	P461S	probably benign	Het
Araf	T	C	X: 20,717,912 (GRCm39)	F144L	probably benign	Het
Atp11b	G	T	3: 35,861,091 (GRCm39)	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,215,624 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,465,935 (GRCm38)	Y987H	probably benign	Het
Capn6	T	G	X: 142,587,785 (GRCm39)	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,154,314 (GRCm39)	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cep162	G	T	9: 87,126,384 (GRCm39)	T176K	probably benign	Het
Cpsf2	A	G	12: 101,956,088 (GRCm39)	D297G	probably benign	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Eprs1	T	A	1: 185,099,734 (GRCm39)	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,704,020 (GRCm39)	C413*	probably null	Het
Fstl5	C	A	3: 76,389,659 (GRCm39)	N285K	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Hivep2	A	G	10: 14,004,107 (GRCm39)	H235R	probably damaging	Het
Htr2c	G	C	X: 145,977,186 (GRCm39)	W325C	probably damaging	Het
Htr2c	G	T	X: 145,977,188 (GRCm39)	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Macroh2a1	C	T	13: 56,232,075 (GRCm39)	G235S	probably damaging	Het
Mcm8	T	A	2: 132,662,041 (GRCm39)	I125K	possibly damaging	Het
Micall1	C	T	15: 79,014,036 (GRCm39)	R644W	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,801,463 (GRCm39)	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Neb	T	C	2: 52,123,007 (GRCm39)	R3734G	probably benign	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Or5bw2	A	T	7: 6,573,802 (GRCm39)	M271L	probably benign	Het
P2ry4	A	G	X: 99,637,553 (GRCm39)	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,343,798 (GRCm39)	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Ptafr	T	G	4: 132,306,691 (GRCm39)	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Reln	A	G	5: 22,192,076 (GRCm39)	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,288,611 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,376,910 (GRCm39)	H117R	probably benign	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,077,364 (GRCm39)	K803*	probably null	Het
Smim23	C	A	11: 32,771,870 (GRCm39)	Q65H	probably damaging	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,701,451 (GRCm39)	V389M	probably damaging	Het
Srbd1	T	C	17: 86,292,651 (GRCm39)	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,123,531 (GRCm39)	P10L	probably damaging	Het
Taf2	A	C	15: 54,928,042 (GRCm39)	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,555,068 (GRCm39)	L42S	probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Tro	A	T	X: 149,438,477 (GRCm39)	M60K	probably benign	Het
Ttc38	G	A	15: 85,728,704 (GRCm39)	V219I	probably benign	Het
U2af2	T	C	7: 5,078,672 (GRCm39)	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044 (GRCm39)	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,521,832 (GRCm39)	S208F	probably damaging	Het
Wdr35	A	G	12: 9,024,955 (GRCm39)	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,306,162 (GRCm39)	W189G	probably damaging	Het
Zfp512	A	T	5: 31,622,919 (GRCm39)	K73N	probably damaging	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
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
R6734:Flrt1	UTSW	19	7,073,524 (GRCm39)	missense	possibly damaging	0.91
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'- TCATGTGTAGGAGTAGTCCACATCAG -3'
(R):5'- ACAGAATGCTGGCCCTATGG -3'

Sequencing Primer
(F):5'- AGTAGTCCACATCAGGGATGCC -3'
(R):5'- CCCTATGGCGGGGCTGC -3'

Posted On

2014-10-15