Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Flrt3'

582965

Institutional Source

Beutler Lab

Gene Symbol

Flrt3

Ensembl Gene

ENSMUSG00000051379

Gene Name

fibronectin leucine rich transmembrane protein 3

Synonyms

5530600M07Rik, C430047I10Rik

MMRRC Submission

045598-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140650914-140671469 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140660206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 501 (T501S)

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 damaging
Transcript: ENSMUST00000056760
AA Change: T501S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379
AA Change: T501S

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 damaging
Transcript: ENSMUST00000110057
AA Change: T501S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379
AA Change: T501S

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

Meta Mutation Damage Score

0.2609

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,152,981 (GRCm38)	F85I	unknown	Het
Ankrd22	A	T	19: 34,149,365 (GRCm38)	W22R	possibly damaging	Het
Aqr	A	T	2: 114,108,109 (GRCm38)	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,213,741 (GRCm38)	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609 (GRCm38)	E791G	probably damaging	Het
Bicd1	T	G	6: 149,513,726 (GRCm38)	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,599 (GRCm38)	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,851 (GRCm38)	H465R	probably damaging	Het
Card11	A	T	5: 140,913,429 (GRCm38)		probably null	Het
Ccdc9	A	G	7: 16,282,400 (GRCm38)	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,909,945 (GRCm38)	M355K	probably benign	Het
Cnot2	A	T	10: 116,507,080 (GRCm38)	V116E	probably benign	Het
Defb48	A	G	14: 62,977,831 (GRCm38)	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,777,651 (GRCm38)	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,400,957 (GRCm38)	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,287,876 (GRCm38)	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,527,493 (GRCm38)	V71I	probably benign	Het
Dzip3	A	T	16: 48,975,474 (GRCm38)	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,674,410 (GRCm38)		probably null	Het
Eogt	A	G	6: 97,113,952 (GRCm38)	F409L	probably damaging	Het
Erich6	A	T	3: 58,630,689 (GRCm38)	L218H	probably damaging	Het
Fam186a	G	C	15: 99,941,915 (GRCm38)	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,023,427 (GRCm38)	V1837I	probably damaging	Het
Fmn1	A	C	2: 113,688,134 (GRCm38)	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,736,092 (GRCm38)	P170Q	probably benign	Het
Gm13101	A	T	4: 143,965,817 (GRCm38)	C205S	probably benign	Het
Gm14326	G	A	2: 177,946,505 (GRCm38)	H233Y	probably damaging	Het
Gm19410	G	A	8: 35,790,612 (GRCm38)	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825 (GRCm38)		probably benign	Het
Gm2832	A	T	14: 41,280,962 (GRCm38)	I143L		Het
Gm7534	T	C	4: 134,200,073 (GRCm38)		probably null	Het
Greb1	G	A	12: 16,716,765 (GRCm38)	T344I	probably benign	Het
Grik2	A	T	10: 49,523,822 (GRCm38)	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,973,051 (GRCm38)	N212D	probably benign	Het
Hgsnat	A	G	8: 25,971,049 (GRCm38)	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,656,573 (GRCm38)	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,294 (GRCm38)	I96N	unknown	Het
Il18r1	T	A	1: 40,471,772 (GRCm38)	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,799 (GRCm38)	V80I	probably damaging	Het
Kif18b	T	C	11: 102,914,667 (GRCm38)	I255V	probably damaging	Het
Kif2c	A	T	4: 117,182,432 (GRCm38)	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,558,038 (GRCm38)	W572R	probably damaging	Het
Mybphl	A	G	3: 108,374,180 (GRCm38)	T71A	probably benign	Het
Myo7a	G	T	7: 98,085,448 (GRCm38)	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,079,083 (GRCm38)	S195P	probably damaging	Het
Nrg1	T	C	8: 31,818,323 (GRCm38)	N603S	probably benign	Het
Olfr1054	A	T	2: 86,333,353 (GRCm38)	M1K	probably null	Het
Olfr1084	A	G	2: 86,639,669 (GRCm38)	I13T	possibly damaging	Het
Olfr629	T	C	7: 103,740,400 (GRCm38)	Y280C	probably damaging	Het
Parp8	T	C	13: 116,894,805 (GRCm38)	E457G	probably damaging	Het
Pclo	T	C	5: 14,521,062 (GRCm38)	F154L	probably benign	Het
Pear1	A	G	3: 87,752,568 (GRCm38)	S704P	probably damaging	Het
Pkib	A	G	10: 57,736,298 (GRCm38)	T92A	probably benign	Het
Pnpla7	A	G	2: 24,998,666 (GRCm38)	R376G	possibly damaging	Het
Ptprd	T	A	4: 76,066,327 (GRCm38)	E527D	probably benign	Het
Pum1	T	C	4: 130,747,026 (GRCm38)	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,284 (GRCm38)	Q238*	probably null	Het
Scn9a	A	C	2: 66,483,646 (GRCm38)	N1909K	probably benign	Het
Sema3c	A	T	5: 17,727,596 (GRCm38)	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,689,728 (GRCm38)	C201S	probably damaging	Het
Serinc2	T	A	4: 130,258,790 (GRCm38)	D206V	probably benign	Het
Serping1	A	T	2: 84,767,293 (GRCm38)	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,548,872 (GRCm38)	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,431,383 (GRCm38)	E262G	probably benign	Het
Slc5a8	A	G	10: 88,902,491 (GRCm38)	I205M	probably damaging	Het
Sod2	G	T	17: 13,008,031 (GRCm38)		probably benign	Het
Tec	T	C	5: 72,786,019 (GRCm38)	I118V	probably benign	Het
Tenm3	A	T	8: 48,287,812 (GRCm38)	V1212E	probably damaging	Het
Tex44	G	A	1: 86,426,515 (GRCm38)	V49I	probably benign	Het
Tmem132d	A	T	5: 127,784,141 (GRCm38)	L972*	probably null	Het
Tpte	G	A	8: 22,325,547 (GRCm38)		probably null	Het
Trim6	T	A	7: 104,232,832 (GRCm38)	I456N	probably damaging	Het
Ubr4	G	C	4: 139,422,417 (GRCm38)	V520L	probably benign	Het
Ubxn8	A	T	8: 33,633,607 (GRCm38)	N101K	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734 (GRCm38)		probably null	Het
Vmn2r83	A	G	10: 79,491,558 (GRCm38)	T667A	probably damaging	Het

Other mutations in Flrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Flrt3	APN	2	140,660,688 (GRCm38)	missense	probably damaging	0.99
IGL02292:Flrt3	APN	2	140,660,125 (GRCm38)	missense	probably damaging	1.00
R0030:Flrt3	UTSW	2	140,660,317 (GRCm38)	missense	probably damaging	1.00
R1487:Flrt3	UTSW	2	140,660,934 (GRCm38)	missense	probably damaging	1.00
R2061:Flrt3	UTSW	2	140,661,453 (GRCm38)	missense	probably damaging	1.00
R2115:Flrt3	UTSW	2	140,661,503 (GRCm38)	missense	probably damaging	1.00
R2326:Flrt3	UTSW	2	140,661,391 (GRCm38)	missense	possibly damaging	0.50
R3113:Flrt3	UTSW	2	140,661,534 (GRCm38)	missense	probably benign	0.03
R3605:Flrt3	UTSW	2	140,661,367 (GRCm38)	missense	probably damaging	1.00
R4366:Flrt3	UTSW	2	140,660,407 (GRCm38)	missense	probably damaging	0.99
R4702:Flrt3	UTSW	2	140,661,655 (GRCm38)	missense	probably benign
R4799:Flrt3	UTSW	2	140,660,166 (GRCm38)	missense	probably damaging	1.00
R5085:Flrt3	UTSW	2	140,660,257 (GRCm38)	missense	probably damaging	0.99
R5100:Flrt3	UTSW	2	140,671,384 (GRCm38)	start gained	probably null
R5109:Flrt3	UTSW	2	140,660,743 (GRCm38)	missense	possibly damaging	0.51
R5635:Flrt3	UTSW	2	140,660,500 (GRCm38)	missense	probably damaging	1.00
R5982:Flrt3	UTSW	2	140,660,916 (GRCm38)	missense	possibly damaging	0.95
R6117:Flrt3	UTSW	2	140,660,445 (GRCm38)	missense	possibly damaging	0.46
R6213:Flrt3	UTSW	2	140,661,165 (GRCm38)	missense	probably damaging	1.00
R6246:Flrt3	UTSW	2	140,659,801 (GRCm38)	missense	probably damaging	1.00
R6746:Flrt3	UTSW	2	140,660,025 (GRCm38)	missense	probably damaging	0.99
R6854:Flrt3	UTSW	2	140,660,718 (GRCm38)	missense	probably damaging	1.00
R7000:Flrt3	UTSW	2	140,660,884 (GRCm38)	nonsense	probably null
R7221:Flrt3	UTSW	2	140,661,170 (GRCm38)	missense	probably damaging	0.99
R7388:Flrt3	UTSW	2	140,661,752 (GRCm38)	critical splice acceptor site	probably null
R7444:Flrt3	UTSW	2	140,660,467 (GRCm38)	missense	probably benign	0.00
R7967:Flrt3	UTSW	2	140,659,891 (GRCm38)	nonsense	probably null
R8272:Flrt3	UTSW	2	140,660,697 (GRCm38)	missense	probably damaging	1.00
R8441:Flrt3	UTSW	2	140,660,626 (GRCm38)	missense	probably benign	0.00
R9109:Flrt3	UTSW	2	140,659,959 (GRCm38)	missense	probably damaging	1.00
R9257:Flrt3	UTSW	2	140,660,239 (GRCm38)	missense	probably benign
R9298:Flrt3	UTSW	2	140,659,959 (GRCm38)	missense	probably damaging	1.00
R9482:Flrt3	UTSW	2	140,661,670 (GRCm38)	missense	probably benign
R9629:Flrt3	UTSW	2	140,660,896 (GRCm38)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TACGCACAGTTCCGTGAAAAC -3'
(R):5'- CTATGACTGCTCTGCGACTCAG -3'

Sequencing Primer
(F):5'- GTGAAAACAGTGACCCGTTCCTATG -3'
(R):5'- ACTCAGCTGGCTTAAACTGG -3'

Posted On

2019-10-17