Mutagenetix > Incidental Mutations

Incidental Mutation 'R7388:Flrt3'

573236

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 #

R7388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140650914-140671469 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 140661752 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053399 (fasta)

Gene Model

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

PDB Structure

FLRT3 LRR domain [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000056760

SMART Domains

Protein: ENSMUSP00000053399
Gene: ENSMUSG00000051379

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 null
Transcript: ENSMUST00000110057

SMART Domains

Protein: ENSMUSP00000105684
Gene: ENSMUSG00000051379

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	T	C	3: 108,543,499	F86L	possibly damaging	Het
Afg3l2	T	C	18: 67,422,953	E436G	probably damaging	Het
Agbl5	T	A	5: 30,903,239	L759*	probably null	Het
Ankrd13b	T	C	11: 77,472,757	D460G	probably benign	Het
Apol10a	A	G	15: 77,489,025	D287G	possibly damaging	Het
Arhgap44	A	T	11: 65,024,268	Y391*	probably null	Het
Asz1	G	T	6: 18,074,901	S271R	probably benign	Het
AW554918	A	G	18: 25,340,113	N325D	probably benign	Het
Brinp2	A	T	1: 158,255,009	L247Q	probably damaging	Het
Casz1	A	G	4: 148,952,393	D1704G	unknown	Het
Cdk5rap1	G	A	2: 154,360,675	R212W	probably damaging	Het
Cdkl2	T	A	5: 92,019,459	T444S	probably benign	Het
Cers2	T	G	3: 95,321,345	F160V	probably benign	Het
Cga	T	A	4: 34,907,076	M99K	probably benign	Het
Cspp1	C	T	1: 10,065,347	R138*	probably null	Het
Dao	T	G	5: 114,015,212	*133E	probably null	Het
Ddx1	A	T	12: 13,225,455	C544S	probably null	Het
Dgkq	A	T	5: 108,658,246	V98E	probably damaging	Het
Dnah6	T	A	6: 73,192,317	T434S	possibly damaging	Het
Dntt	A	G	19: 41,038,979	N162D	probably benign	Het
Dpysl5	T	C	5: 30,745,461	V79A	probably benign	Het
E130309D02Rik	G	A	5: 143,311,845	A149V	probably benign	Het
Ep300	T	C	15: 81,648,366	C1602R	unknown	Het
Gk2	A	G	5: 97,456,898	V27A	probably damaging	Het
Gm11639	T	C	11: 104,721,045	L571P	probably damaging	Het
Gnpat	T	G	8: 124,887,814	M663R	probably benign	Het
Hc	A	T	2: 34,984,847		probably null	Het
Il12rb1	A	G	8: 70,810,627	Y67C	probably damaging	Het
Kmt2b	C	T	7: 30,581,960	D1229N	probably damaging	Het
Lamc1	T	C	1: 153,249,076	T650A	probably damaging	Het
Lrp1	G	A	10: 127,583,897	R948*	probably null	Het
Map3k21	T	C	8: 125,927,597	I385T	probably damaging	Het
Mmrn1	T	A	6: 60,976,252	S506T	probably benign	Het
Nlrp1a	A	G	11: 71,123,197	F409S	probably damaging	Het
Nlrp3	T	A	11: 59,565,066	I896N	probably benign	Het
Noxred1	C	A	12: 87,227,025	V81L	probably damaging	Het
Nrcam	A	T	12: 44,598,489	I1225F	probably damaging	Het
Olfr30	C	T	11: 58,455,655	C98Y	probably damaging	Het
Otos	T	A	1: 92,644,519		probably null	Het
Pcdh20	A	G	14: 88,468,667	I399T	probably benign	Het
Pkhd1	C	T	1: 20,239,304	V2807I	not run	Het
Prrx2	A	G	2: 30,880,890	E235G	probably damaging	Het
Rab13	T	C	3: 90,221,020	I41T	probably damaging	Het
Rai1	A	C	11: 60,189,375	T1422P	possibly damaging	Het
Rcn1	C	T	2: 105,391,991	V217M	probably damaging	Het
Scn2a	T	A	2: 65,688,654	V408E	probably damaging	Het
Sec16a	C	T	2: 26,428,364	A121T		Het
Slc35d1	A	G	4: 103,189,785		probably null	Het
Slc39a6	A	T	18: 24,584,049	V642E	probably damaging	Het
Slc6a19	G	A	13: 73,693,084	A69V	probably benign	Het
Spink6	A	T	18: 44,082,319	T79S	probably damaging	Het
Spire1	T	C	18: 67,519,880	D170G	probably damaging	Het
Sugp1	T	C	8: 70,052,619	S79P	probably damaging	Het
Syne3	A	G	12: 104,967,908	Y201H	probably damaging	Het
Tbc1d10a	T	C	11: 4,205,858		probably null	Het
Tmem14a	C	T	1: 21,229,511	Q122*	probably null	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Trmt61a	A	G	12: 111,678,887	I86V	possibly damaging	Het
Tubgcp4	G	A	2: 121,189,966		probably null	Het
Vmn1r79	T	A	7: 12,176,741	Y183*	probably null	Het
Vmn2r11	A	T	5: 109,054,876	W112R	probably benign	Het
Vpreb1	T	C	16: 16,868,652	K125E	probably benign	Het
Wdr6	A	T	9: 108,574,772	F637L	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
R7444:Flrt3	UTSW	2	140660467	missense	probably benign	0.00
R7526:Flrt3	UTSW	2	140660206	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACTGGAATGGATGTCAGAG -3'
(R):5'- AACGTATATTCCAAAGACACTCAGG -3'

Sequencing Primer
(F):5'- CGTTACAGTAAATGAAGCCTGCGTC -3'
(R):5'- ATATTCCAAAGACACTCAGGATAAAG -3'

Posted On

2019-09-13