Mutagenetix > Incidental Mutation

Incidental Mutation 'R4307:Efemp2'

324078

Institutional Source

Beutler Lab

Gene Symbol

Efemp2

Ensembl Gene

ENSMUSG00000024909

Gene Name

epidermal growth factor-containing fibulin-like extracellular matrix protein 2

Synonyms

0610011K11Rik, MBP1, fibulin-4, Fbln4, fibulin 4

MMRRC Submission

041658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4307 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5523982-5532545 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5531649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 430 (Y430N)

Ref Sequence

ENSEMBL: ENSMUSP00000064719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025841] [ENSMUST00000070118] [ENSMUST00000124334] [ENSMUST00000126471] [ENSMUST00000167371] [ENSMUST00000165485] [ENSMUST00000168330] [ENSMUST00000167855] [ENSMUST00000166253] [ENSMUST00000167304] [ENSMUST00000167827] [ENSMUST00000169943]

AlphaFold

Q9WVJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000025841

SMART Domains

Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
SCOP:d1jmsa1	9	73	7e-3	SMART
PDB:2KP7\|A	11	90	5e-51	PDB
low complexity region	92	107	N/A	INTRINSIC
PDB:2MC3\|A	121	229	1e-48	PDB
ERCC4	270	372	8.31e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070118
AA Change: Y430N

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064719
Gene: ENSMUSG00000024909
AA Change: Y430N

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
EGF_like	73	113	2.74e-1	SMART
low complexity region	115	130	N/A	INTRINSIC
EGF_CA	142	182	1.08e-10	SMART
EGF_CA	183	221	1.94e-12	SMART
EGF_CA	222	261	1.36e-7	SMART
EGF_CA	262	301	2.19e-11	SMART
EGF	305	347	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124334

SMART Domains

Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
SCOP:d1jmsa1	9	73	9e-3	SMART
PDB:2KP7\|A	11	90	9e-51	PDB
low complexity region	92	107	N/A	INTRINSIC
PDB:2MC3\|A	121	229	3e-48	PDB
ERCC4	270	372	8.31e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126471

SMART Domains

Protein: ENSMUSP00000121435
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
PDB:2KP7\|A	11	72	8e-21	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000133436

SMART Domains

Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
PDB:2KP7\|A	2	55	5e-30	PDB
low complexity region	57	72	N/A	INTRINSIC
PDB:2MC3\|A	86	194	8e-50	PDB
ERCC4	235	337	8.31e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146661

Predicted Effect

probably benign
Transcript: ENSMUST00000167371
AA Change: Y370N

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129746
Gene: ENSMUSG00000024909
AA Change: Y370N

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_like	54	94	2.74e-1	SMART
low complexity region	96	111	N/A	INTRINSIC
EGF_CA	123	161	1.94e-12	SMART
EGF_CA	162	201	1.36e-7	SMART
EGF_CA	202	241	2.19e-11	SMART
EGF	245	287	1.95e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165485
AA Change: Y411N

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133016
Gene: ENSMUSG00000024909
AA Change: Y411N

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_like	54	94	2.74e-1	SMART
low complexity region	96	111	N/A	INTRINSIC
EGF_CA	123	163	1.08e-10	SMART
EGF_CA	164	202	1.94e-12	SMART
EGF_CA	203	242	1.36e-7	SMART
EGF_CA	243	282	2.19e-11	SMART
EGF	286	328	1.95e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147961

Predicted Effect

probably benign
Transcript: ENSMUST00000168330

Predicted Effect

probably benign
Transcript: ENSMUST00000167855

SMART Domains

Protein: ENSMUSP00000132194
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
Blast:EGF_like	1	26	4e-10	BLAST
low complexity region	28	43	N/A	INTRINSIC
EGF_CA	55	95	1.08e-10	SMART
EGF_CA	96	134	1.94e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166253

SMART Domains

Protein: ENSMUSP00000127312
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	54	92	1.94e-12	SMART
EGF_CA	93	132	1.36e-7	SMART
EGF_CA	133	172	2.19e-11	SMART
EGF	176	218	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164388

SMART Domains

Protein: ENSMUSP00000131979
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
EGF	4	35	1.59e1	SMART
EGF	39	81	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167304

SMART Domains

Protein: ENSMUSP00000129982
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:EGF_CA	54	86	2.4e-9	PFAM
low complexity region	96	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164204

SMART Domains

Protein: ENSMUSP00000128414
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
Pfam:EGF_CA	37	69	5.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167827

SMART Domains

Protein: ENSMUSP00000127478
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
Blast:EGF_like	1	26	9e-10	BLAST
low complexity region	28	43	N/A	INTRINSIC
EGF_CA	55	95	1.08e-10	SMART
EGF_CA	96	134	1.94e-12	SMART
EGF_CA	135	174	1.36e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169943

SMART Domains

Protein: ENSMUSP00000126477
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Meta Mutation Damage Score

0.5094

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (33/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality with abnormal artery and lung morphology and defects in vascular, pulmonary, and hypodermal elastic fibers. Some alleles of Mus81 also affect expression of this gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	A	C	10: 83,573,792 (GRCm39)	K22N	probably damaging	Het
A830018L16Rik	C	A	1: 12,042,300 (GRCm39)	S440*	probably null	Het
Asap2	T	C	12: 21,279,482 (GRCm39)	I426T	probably damaging	Het
Ccr5	T	C	9: 123,925,111 (GRCm39)	L238P	possibly damaging	Het
Cfap157	G	A	2: 32,669,054 (GRCm39)	R350W	probably damaging	Het
Egf	T	A	3: 129,512,744 (GRCm39)	Y473F	probably damaging	Het
Emilin3	T	C	2: 160,750,237 (GRCm39)	E504G	probably damaging	Het
Fcsk	G	A	8: 111,618,712 (GRCm39)	Q349*	probably null	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Gm20939	A	T	17: 95,184,162 (GRCm39)	Y270F	possibly damaging	Het
Gpbp1	T	C	13: 111,585,517 (GRCm39)	*68W	probably null	Het
Gpm6a	T	C	8: 55,500,428 (GRCm39)		probably null	Het
Inpp5a	T	C	7: 139,154,879 (GRCm39)	S333P	possibly damaging	Het
Itgb5	T	G	16: 33,769,102 (GRCm39)	Y481D	possibly damaging	Het
Kif27	C	T	13: 58,491,937 (GRCm39)	V401I	probably benign	Het
Lca5l	C	T	16: 95,960,756 (GRCm39)		probably benign	Het
Mrtfa	G	A	15: 80,900,548 (GRCm39)	L648F	possibly damaging	Het
Plxna4	A	G	6: 32,140,444 (GRCm39)	V1648A	probably damaging	Het
Polk	C	T	13: 96,633,174 (GRCm39)	E290K	possibly damaging	Het
Prr27	A	G	5: 87,990,766 (GRCm39)	H126R	probably benign	Het
Scn7a	A	T	2: 66,506,099 (GRCm39)	S1597T	possibly damaging	Het
Slc5a11	T	A	7: 122,869,093 (GRCm39)	H560Q	probably benign	Het
Top3b	T	C	16: 16,707,481 (GRCm39)		probably benign	Het
Unc13c	T	C	9: 73,600,649 (GRCm39)	N1365S	probably benign	Het
Vmn2r101	T	A	17: 19,810,423 (GRCm39)	V403E	probably damaging	Het
Vmn2r12	A	G	5: 109,233,872 (GRCm39)	L780P	probably damaging	Het
Vmn2r28	A	T	7: 5,493,707 (GRCm39)	F80I	probably damaging	Het

Other mutations in Efemp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03011:Efemp2	APN	19	5,530,093 (GRCm39)	missense	probably damaging	0.99
IGL03079:Efemp2	APN	19	5,525,155 (GRCm39)	missense	probably damaging	1.00
H8562:Efemp2	UTSW	19	5,530,677 (GRCm39)	missense	probably benign	0.43
R0149:Efemp2	UTSW	19	5,527,988 (GRCm39)	missense	probably damaging	1.00
R0266:Efemp2	UTSW	19	5,528,027 (GRCm39)	missense	probably damaging	1.00
R0594:Efemp2	UTSW	19	5,525,091 (GRCm39)	unclassified	probably benign
R0723:Efemp2	UTSW	19	5,530,078 (GRCm39)	missense	probably damaging	1.00
R2110:Efemp2	UTSW	19	5,525,190 (GRCm39)	missense	probably damaging	1.00
R4494:Efemp2	UTSW	19	5,530,339 (GRCm39)	missense	probably damaging	1.00
R4878:Efemp2	UTSW	19	5,530,789 (GRCm39)	unclassified	probably benign
R4889:Efemp2	UTSW	19	5,525,148 (GRCm39)	missense	probably null	1.00
R5156:Efemp2	UTSW	19	5,527,706 (GRCm39)	missense	possibly damaging	0.93
R5165:Efemp2	UTSW	19	5,525,439 (GRCm39)	missense	probably damaging	1.00
R6932:Efemp2	UTSW	19	5,530,273 (GRCm39)	missense	probably damaging	1.00
R7171:Efemp2	UTSW	19	5,530,285 (GRCm39)	missense	probably benign	0.00
R8017:Efemp2	UTSW	19	5,527,708 (GRCm39)	nonsense	probably null
R8019:Efemp2	UTSW	19	5,527,708 (GRCm39)	nonsense	probably null
R8037:Efemp2	UTSW	19	5,530,141 (GRCm39)	nonsense	probably null
R8051:Efemp2	UTSW	19	5,526,095 (GRCm39)	missense	probably damaging	1.00
R8101:Efemp2	UTSW	19	5,526,246 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTACAGGTTAGAGCCAGGG -3'
(R):5'- TTTAAGCAGAACGGTCATCCCTAG -3'

Sequencing Primer
(F):5'- ACTTGAGCAGGGGCCTTGTC -3'
(R):5'- GGTCATCCCTAGGCCCC -3'

Posted On

2015-06-24