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

Accession Numbers

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

Other mutations in Flrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Flrt3	APN	2	140660688	missense	probably damaging	0.99
IGL02292:Flrt3	APN	2	140660125	missense	probably damaging	1.00
R0030:Flrt3	UTSW	2	140660317	missense	probably damaging	1.00
R1487:Flrt3	UTSW	2	140660934	missense	probably damaging	1.00
R2061:Flrt3	UTSW	2	140661453	missense	probably damaging	1.00
R2115:Flrt3	UTSW	2	140661503	missense	probably damaging	1.00
R2326:Flrt3	UTSW	2	140661391	missense	possibly damaging	0.50
R3113:Flrt3	UTSW	2	140661534	missense	probably benign	0.03
R3605:Flrt3	UTSW	2	140661367	missense	probably damaging	1.00
R4366:Flrt3	UTSW	2	140660407	missense	probably damaging	0.99
R4702:Flrt3	UTSW	2	140661655	missense	probably benign
R4799:Flrt3	UTSW	2	140660166	missense	probably damaging	1.00
R5085:Flrt3	UTSW	2	140660257	missense	probably damaging	0.99
R5100:Flrt3	UTSW	2	140671384	start gained	probably null
R5109:Flrt3	UTSW	2	140660743	missense	possibly damaging	0.51
R5635:Flrt3	UTSW	2	140660500	missense	probably damaging	1.00
R5982:Flrt3	UTSW	2	140660916	missense	possibly damaging	0.95
R6117:Flrt3	UTSW	2	140660445	missense	possibly damaging	0.46
R6213:Flrt3	UTSW	2	140661165	missense	probably damaging	1.00
R6246:Flrt3	UTSW	2	140659801	missense	probably damaging	1.00
R6746:Flrt3	UTSW	2	140660025	missense	probably damaging	0.99
R6854:Flrt3	UTSW	2	140660718	missense	probably damaging	1.00
R7000:Flrt3	UTSW	2	140660884	nonsense	probably null
R7221:Flrt3	UTSW	2	140661170	missense	probably damaging	0.99
R7388:Flrt3	UTSW	2	140661752	critical splice acceptor site	probably null
R7444:Flrt3	UTSW	2	140660467	missense	probably benign	0.00
R7967:Flrt3	UTSW	2	140659891	nonsense	probably null
R8272:Flrt3	UTSW	2	140660697	missense	probably damaging	1.00
R8441:Flrt3	UTSW	2	140660626	missense	probably benign	0.00
R9109:Flrt3	UTSW	2	140659959	missense	probably damaging	1.00
R9257:Flrt3	UTSW	2	140660239	missense	probably benign
R9298:Flrt3	UTSW	2	140659959	missense	probably damaging	1.00
R9482:Flrt3	UTSW	2	140661670	missense	probably benign
R9629:Flrt3	UTSW	2	140660896	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