Mutagenetix > Incidental Mutation

Incidental Mutation 'R7444:Flrt3'

577148

Institutional Source

Beutler Lab

Gene Symbol

Flrt3

Ensembl Gene

ENSMUSG00000051379

Gene Name

fibronectin leucine rich transmembrane protein 3

Synonyms

5530600M07Rik, C430047I10Rik

MMRRC Submission

045520-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140500118-140513396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140502387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 414 (T414A)

Ref Sequence

ENSEMBL: ENSMUSP00000053399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056760] [ENSMUST00000078027] [ENSMUST00000110057] [ENSMUST00000110063] [ENSMUST00000110064] [ENSMUST00000110067]

AlphaFold

Q8BGT1

PDB Structure

FLRT3 LRR domain [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000056760
AA Change: T414A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: T414A

Domain	Start	End	E-Value	Type
LRRNT	30	62	3.12e-6	SMART
LRR	82	105	1.03e2	SMART
LRR	127	152	8.26e1	SMART
LRR	156	176	4.58e1	SMART
LRR	198	223	4.09e1	SMART
LRR	224	247	1.33e1	SMART
LRR	248	269	4.2e0	SMART
LRR_TYP	270	293	7.9e-4	SMART
LRRCT	305	356	1.49e-9	SMART
FN3	404	486	4.56e0	SMART
transmembrane domain	530	552	N/A	INTRINSIC
low complexity region	625	639	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078027

SMART Domains

Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
A1pp	71	201	5.72e-45	SMART
low complexity region	266	293	N/A	INTRINSIC
low complexity region	307	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110057
AA Change: T414A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: T414A

Domain	Start	End	E-Value	Type
LRRNT	30	62	3.12e-6	SMART
LRR	82	105	1.03e2	SMART
LRR	127	152	8.26e1	SMART
LRR	156	176	4.58e1	SMART
LRR	198	223	4.09e1	SMART
LRR	224	247	1.33e1	SMART
LRR	248	269	4.2e0	SMART
LRR_TYP	270	293	7.9e-4	SMART
LRRCT	305	356	1.49e-9	SMART
FN3	404	486	4.56e0	SMART
transmembrane domain	530	552	N/A	INTRINSIC
low complexity region	625	639	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110063

SMART Domains

Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
PDB:4IQY\|B	21	107	1e-36	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110064

SMART Domains

Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
A1pp	71	201	5.72e-45	SMART
low complexity region	266	293	N/A	INTRINSIC
low complexity region	307	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110067

SMART Domains

Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
A1pp	71	201	5.72e-45	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, abnormal embryonic tissue development, disrupted head formation, cardia bifida and abnormal ventral wall closure. [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
Ahnak	A	G	19: 8,984,787 (GRCm39)	M2024V	probably benign	Het
Ahnak2	T	A	12: 112,745,831 (GRCm39)	Q1673L		Het
Atic	G	T	1: 71,602,946 (GRCm39)	V107L	probably benign	Het
B2m	A	G	2: 121,981,416 (GRCm39)	N44D	probably damaging	Het
Bud13	A	G	9: 46,209,799 (GRCm39)	D636G	probably damaging	Het
Cenpk	T	C	13: 104,386,025 (GRCm39)	*307Q	probably null	Het
Cep68	A	G	11: 20,189,438 (GRCm39)	S525P	probably benign	Het
Clca3a1	A	G	3: 144,733,193 (GRCm39)	L105P	probably damaging	Het
Cntnap5a	A	T	1: 116,220,079 (GRCm39)	M630L	probably benign	Het
Cpb2	A	G	14: 75,520,782 (GRCm39)	Y399C	probably damaging	Het
Dars2	G	T	1: 160,874,454 (GRCm39)	P412T	possibly damaging	Het
E2f8	A	T	7: 48,517,927 (GRCm39)	I665N	probably damaging	Het
Epha4	A	T	1: 77,364,553 (GRCm39)	I652N	probably damaging	Het
Ermn	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	2: 57,938,079 (GRCm39)		probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fosb	T	C	7: 19,041,199 (GRCm39)	D98G	possibly damaging	Het
Gm5773	T	C	3: 93,680,850 (GRCm39)	L174S	probably damaging	Het
Hectd3	T	A	4: 116,854,124 (GRCm39)	V258E	possibly damaging	Het
Inf2	T	A	12: 112,571,821 (GRCm39)	W617R	unknown	Het
Irf7	T	A	7: 140,843,599 (GRCm39)	I358F	probably damaging	Het
Lipo3	A	G	19: 33,535,663 (GRCm39)		probably null	Het
Lrig2	A	T	3: 104,404,829 (GRCm39)	L93*	probably null	Het
Lzts1	C	T	8: 69,588,331 (GRCm39)	V542M	probably damaging	Het
Mefv	T	A	16: 3,533,386 (GRCm39)	H295L	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nat8f6	G	C	6: 85,786,112 (GRCm39)	S12R	probably benign	Het
Nipal4	G	T	11: 46,057,062 (GRCm39)	N14K	probably benign	Het
Nlrp4c	T	A	7: 6,095,595 (GRCm39)	C824*	probably null	Het
Npat	T	C	9: 53,460,210 (GRCm39)	S53P	probably damaging	Het
Nrxn3	A	G	12: 89,477,464 (GRCm39)	E549G	probably damaging	Het
Or10a5	T	C	7: 106,635,554 (GRCm39)	L64P	probably damaging	Het
Or12e8	T	A	2: 87,188,444 (GRCm39)	L219I	possibly damaging	Het
Or1r1	T	C	11: 73,874,576 (GRCm39)	N286S	probably damaging	Het
Or4a80	T	C	2: 89,583,103 (GRCm39)	K23R	probably benign	Het
Or4f62	A	T	2: 111,987,060 (GRCm39)	I255F	probably damaging	Het
Or5p55	T	A	7: 107,566,811 (GRCm39)	V69E	probably damaging	Het
Or6c6b	T	C	10: 129,147,559 (GRCm39)	M61T	probably benign	Het
Or6z6	C	A	7: 6,490,919 (GRCm39)	W311L	probably benign	Het
Pcdhb11	T	A	18: 37,555,672 (GRCm39)	I334K	probably damaging	Het
Pcdhb4	T	C	18: 37,442,505 (GRCm39)	L605P	probably damaging	Het
Pced1a	G	T	2: 130,263,979 (GRCm39)	H224Q	probably damaging	Het
Pde6b	C	A	5: 108,575,008 (GRCm39)	S623*	probably null	Het
Pgr	T	C	9: 8,946,883 (GRCm39)	L708P	probably damaging	Het
Pnpla1	T	C	17: 29,097,455 (GRCm39)	I207T	possibly damaging	Het
Prkag3	A	T	1: 74,786,425 (GRCm39)	D173E	probably benign	Het
Prrt4	A	G	6: 29,176,516 (GRCm39)	F270L	probably benign	Het
Ptdss2	C	A	7: 140,732,997 (GRCm39)	P260Q	possibly damaging	Het
Rftn1	T	A	17: 50,354,435 (GRCm39)	N309I	probably damaging	Het
Rgs12	T	C	5: 35,183,287 (GRCm39)	V978A	possibly damaging	Het
Rnf111	T	C	9: 70,348,125 (GRCm39)	Y816C	probably damaging	Het
Rnf208	C	T	2: 25,133,326 (GRCm39)	P7S	probably damaging	Het
Rnf24	T	C	2: 131,155,215 (GRCm39)	D4G	probably damaging	Het
Ryr2	T	A	13: 11,570,349 (GRCm39)	I4925L	probably benign	Het
S1pr5	A	T	9: 21,156,378 (GRCm39)	V16D	possibly damaging	Het
Scgb1b24	A	G	7: 33,443,566 (GRCm39)	D75G	possibly damaging	Het
Setdb2	A	T	14: 59,660,794 (GRCm39)	C116*	probably null	Het
Sh3rf2	G	A	18: 42,234,604 (GRCm39)	R129Q	probably damaging	Het
Spata31d1d	C	T	13: 59,875,007 (GRCm39)	V843I	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Tecrl	T	A	5: 83,502,915 (GRCm39)		probably benign	Het
Tex15	T	A	8: 34,066,590 (GRCm39)	S2007T	possibly damaging	Het
Tomm7	C	A	5: 24,049,155 (GRCm39)		probably benign	Het
Trpv1	A	C	11: 73,135,030 (GRCm39)	N409T	possibly damaging	Het
Try5	T	A	6: 41,288,299 (GRCm39)	Y218F	probably benign	Het
Tspan5	A	T	3: 138,603,883 (GRCm39)	I196F	possibly damaging	Het
Wdhd1	A	T	14: 47,489,405 (GRCm39)	C709*	probably null	Het

Other mutations in Flrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Flrt3	APN	2	140,502,608 (GRCm39)	missense	probably damaging	0.99
IGL02292:Flrt3	APN	2	140,502,045 (GRCm39)	missense	probably damaging	1.00
R0030:Flrt3	UTSW	2	140,502,237 (GRCm39)	missense	probably damaging	1.00
R1487:Flrt3	UTSW	2	140,502,854 (GRCm39)	missense	probably damaging	1.00
R2061:Flrt3	UTSW	2	140,503,373 (GRCm39)	missense	probably damaging	1.00
R2115:Flrt3	UTSW	2	140,503,423 (GRCm39)	missense	probably damaging	1.00
R2326:Flrt3	UTSW	2	140,503,311 (GRCm39)	missense	possibly damaging	0.50
R3113:Flrt3	UTSW	2	140,503,454 (GRCm39)	missense	probably benign	0.03
R3605:Flrt3	UTSW	2	140,503,287 (GRCm39)	missense	probably damaging	1.00
R4366:Flrt3	UTSW	2	140,502,327 (GRCm39)	missense	probably damaging	0.99
R4702:Flrt3	UTSW	2	140,503,575 (GRCm39)	missense	probably benign
R4799:Flrt3	UTSW	2	140,502,086 (GRCm39)	missense	probably damaging	1.00
R5085:Flrt3	UTSW	2	140,502,177 (GRCm39)	missense	probably damaging	0.99
R5100:Flrt3	UTSW	2	140,513,304 (GRCm39)	start gained	probably null
R5109:Flrt3	UTSW	2	140,502,663 (GRCm39)	missense	possibly damaging	0.51
R5635:Flrt3	UTSW	2	140,502,420 (GRCm39)	missense	probably damaging	1.00
R5982:Flrt3	UTSW	2	140,502,836 (GRCm39)	missense	possibly damaging	0.95
R6117:Flrt3	UTSW	2	140,502,365 (GRCm39)	missense	possibly damaging	0.46
R6213:Flrt3	UTSW	2	140,503,085 (GRCm39)	missense	probably damaging	1.00
R6246:Flrt3	UTSW	2	140,501,721 (GRCm39)	missense	probably damaging	1.00
R6746:Flrt3	UTSW	2	140,501,945 (GRCm39)	missense	probably damaging	0.99
R6854:Flrt3	UTSW	2	140,502,638 (GRCm39)	missense	probably damaging	1.00
R7000:Flrt3	UTSW	2	140,502,804 (GRCm39)	nonsense	probably null
R7221:Flrt3	UTSW	2	140,503,090 (GRCm39)	missense	probably damaging	0.99
R7388:Flrt3	UTSW	2	140,503,672 (GRCm39)	critical splice acceptor site	probably null
R7526:Flrt3	UTSW	2	140,502,126 (GRCm39)	missense	probably damaging	1.00
R7967:Flrt3	UTSW	2	140,501,811 (GRCm39)	nonsense	probably null
R8272:Flrt3	UTSW	2	140,502,617 (GRCm39)	missense	probably damaging	1.00
R8441:Flrt3	UTSW	2	140,502,546 (GRCm39)	missense	probably benign	0.00
R9109:Flrt3	UTSW	2	140,501,879 (GRCm39)	missense	probably damaging	1.00
R9257:Flrt3	UTSW	2	140,502,159 (GRCm39)	missense	probably benign
R9298:Flrt3	UTSW	2	140,501,879 (GRCm39)	missense	probably damaging	1.00
R9482:Flrt3	UTSW	2	140,503,590 (GRCm39)	missense	probably benign
R9629:Flrt3	UTSW	2	140,502,816 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TAGGGCGGTGACCAAGTATTC -3'
(R):5'- CCCAGAAAAGGTCCGTGGAATG -3'

Sequencing Primer
(F):5'- GGTGACCAAGTATTCACTGCG -3'
(R):5'- ATGGCTATCAAGGACCTCAGTGC -3'

Posted On

2019-10-07