Mutagenetix > Incidental Mutation

Incidental Mutation 'R6326:Flrt1'

510454

Institutional Source

Beutler Lab

Gene Symbol

Flrt1

Ensembl Gene

ENSMUSG00000047787

Gene Name

fibronectin leucine rich transmembrane protein 1

Synonyms

D630040I23Rik

MMRRC Submission

044480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R6326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7069366-7083094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7073974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 191 (S191N)

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: S191N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109010
Gene: ENSMUSG00000047787
AA Change: S191N

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

Meta Mutation Damage Score

0.3307

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	T	7: 66,770,636 (GRCm39)	Y915F	probably benign	Het
Adap2	T	A	11: 80,045,848 (GRCm39)	F43I	probably damaging	Het
Adprs	A	T	4: 126,210,406 (GRCm39)	L358Q	possibly damaging	Het
Akap9	A	C	5: 4,012,061 (GRCm39)	Q921H	probably damaging	Het
Amigo2	A	G	15: 97,143,256 (GRCm39)	S389P	probably benign	Het
Atg2b	A	T	12: 105,627,351 (GRCm39)	C545*	probably null	Het
C2cd3	A	G	7: 100,065,635 (GRCm39)	E807G	probably benign	Het
Ccdc110	A	G	8: 46,395,078 (GRCm39)	E323G	probably damaging	Het
Cdk5rap2	T	A	4: 70,153,691 (GRCm39)	S1711C	probably damaging	Het
Cebpzos	T	G	17: 79,226,486 (GRCm39)	D39E	probably damaging	Het
Cenpe	A	G	3: 134,945,539 (GRCm39)	N1018D	probably benign	Het
Cfap68	T	G	9: 50,676,057 (GRCm39)	N87T	probably damaging	Het
Clspn	C	A	4: 126,459,532 (GRCm39)	H141Q	probably damaging	Het
Cluh	C	T	11: 74,557,068 (GRCm39)	A1010V	probably benign	Het
Col27a1	G	T	4: 63,242,678 (GRCm39)		probably benign	Het
Cpt2	T	C	4: 107,771,513 (GRCm39)	M61V	probably benign	Het
Ddr2	T	A	1: 169,814,709 (GRCm39)	H578L	probably damaging	Het
Dnah14	T	A	1: 181,611,121 (GRCm39)	I3749N	probably damaging	Het
Dnajc18	T	C	18: 35,813,978 (GRCm39)	T264A	possibly damaging	Het
Ecpas	T	A	4: 58,827,068 (GRCm39)	T1022S	probably benign	Het
Eml6	T	C	11: 29,769,066 (GRCm39)	N693S	probably damaging	Het
Ephx4	A	G	5: 107,553,977 (GRCm39)	E9G	probably damaging	Het
Eps15l1	G	A	8: 73,095,278 (GRCm39)	Q747*	probably null	Het
Gm5114	C	T	7: 39,057,579 (GRCm39)	R680H	probably benign	Het
Gm5431	T	C	11: 48,780,172 (GRCm39)	H250R	probably damaging	Het
Gm7233	T	C	14: 43,040,342 (GRCm39)	C198R	possibly damaging	Het
Herc2	C	G	7: 55,872,682 (GRCm39)	Q4407E	probably damaging	Het
Hmx3	C	G	7: 131,144,734 (GRCm39)		probably benign	Het
Hoxb7	C	A	11: 96,177,909 (GRCm39)	A119E	probably benign	Het
Ifi207	A	T	1: 173,557,532 (GRCm39)	M402K	probably benign	Het
Ints14	T	C	9: 64,871,719 (GRCm39)	V19A	probably benign	Het
Itgae	T	A	11: 73,022,519 (GRCm39)	N911K	possibly damaging	Het
Kif1a	T	C	1: 93,004,048 (GRCm39)	S145G	probably damaging	Het
Klhdc4	A	G	8: 122,531,793 (GRCm39)	W187R	probably damaging	Het
Krt1	A	T	15: 101,758,684 (GRCm39)	I160N	probably damaging	Het
Krt12	T	C	11: 99,307,745 (GRCm39)	T448A	probably benign	Het
Lcmt2	G	A	2: 120,969,938 (GRCm39)	R382*	probably null	Het
Map3k8	C	T	18: 4,340,651 (GRCm39)	S221N	probably damaging	Het
Med17	T	C	9: 15,190,854 (GRCm39)	D79G	probably benign	Het
Mlf1	A	T	3: 67,307,060 (GRCm39)	I257F	probably damaging	Het
Mov10l1	T	A	15: 88,879,098 (GRCm39)	F153I	probably damaging	Het
Msto1	A	C	3: 88,819,405 (GRCm39)	V149G	probably damaging	Het
Mybl1	T	C	1: 9,748,732 (GRCm39)		probably null	Het
Myoc	A	G	1: 162,476,580 (GRCm39)	Y428C	probably damaging	Het
Nin	A	G	12: 70,091,955 (GRCm39)	S785P	possibly damaging	Het
Oit3	A	T	10: 59,264,061 (GRCm39)	F358I	probably damaging	Het
Or5t15	C	T	2: 86,681,338 (GRCm39)	V235I	probably benign	Het
Or6c88	A	G	10: 129,406,571 (GRCm39)	T16A	possibly damaging	Het
Paip1	A	G	13: 119,566,753 (GRCm39)	N29S	probably benign	Het
Pcdhgb4	T	C	18: 37,855,509 (GRCm39)	S635P	probably benign	Het
Pcsk1	A	G	13: 75,280,298 (GRCm39)	N708D	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prag1	A	T	8: 36,569,860 (GRCm39)	M148L	possibly damaging	Het
Ptch1	A	G	13: 63,691,359 (GRCm39)	L176P	probably damaging	Het
Ralgapa1	A	T	12: 55,793,931 (GRCm39)	V568D	probably damaging	Het
Rb1	A	T	14: 73,435,974 (GRCm39)	M897K	probably benign	Het
Resf1	T	A	6: 149,230,493 (GRCm39)	Y1180N	probably damaging	Het
Robo3	T	A	9: 37,338,323 (GRCm39)	Q386L	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,828 (GRCm39)	V420A	possibly damaging	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Sipa1l1	A	G	12: 82,419,242 (GRCm39)	E640G	probably damaging	Het
Slc22a2	C	A	17: 12,831,297 (GRCm39)	Y362*	probably null	Het
Slc5a9	T	C	4: 111,737,450 (GRCm39)	E603G	probably benign	Het
Slc6a17	A	T	3: 107,407,722 (GRCm39)	I83N	probably damaging	Het
Snx29	G	T	16: 11,221,430 (GRCm39)	M285I	probably benign	Het
Spata2	T	C	2: 167,326,094 (GRCm39)	T242A	possibly damaging	Het
Stard13	A	G	5: 150,970,384 (GRCm39)	L733P	possibly damaging	Het
Svep1	A	G	4: 58,073,045 (GRCm39)	V2088A	possibly damaging	Het
Tdp2	A	G	13: 25,024,540 (GRCm39)	E279G	probably damaging	Het
Tnfrsf8	T	G	4: 144,995,794 (GRCm39)	I422L	probably damaging	Het
Tpk1	T	A	6: 43,323,736 (GRCm39)	T189S	possibly damaging	Het
Trhde	A	T	10: 114,403,129 (GRCm39)	M498K	probably damaging	Het
Trim35	T	A	14: 66,540,653 (GRCm39)	H168Q	possibly damaging	Het
Tubb5	T	C	17: 36,147,347 (GRCm39)		probably benign	Het
Tut4	C	T	4: 108,336,177 (GRCm39)	T6I	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r77	G	A	7: 86,451,031 (GRCm39)	G306R	probably benign	Het
Xkr4	C	T	1: 3,741,261 (GRCm39)	R104H	possibly damaging	Het
Zfp398	T	C	6: 47,843,355 (GRCm39)	I337T	possibly 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
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
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'- AGTTCCGTACTAGCGACAGC -3'
(R):5'- ATGACCTGGACGAGTTCCCTATC -3'

Sequencing Primer
(F):5'- CGTGAGGTTCTGCAGCC -3'
(R):5'- TCCCTGAGAGAGCTGCATCTG -3'

Posted On

2018-04-02