Mutagenetix > Incidental Mutation

Incidental Mutation 'R6932:Efemp2'

540138

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

045047-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5523982-5532545 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5530273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 287 (C287S)

Ref Sequence

ENSEMBL: ENSMUSP00000133016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025841] [ENSMUST00000070118] [ENSMUST00000124334] [ENSMUST00000165485] [ENSMUST00000166253] [ENSMUST00000166303] [ENSMUST00000167304] [ENSMUST00000167371] [ENSMUST00000167827] [ENSMUST00000167855] [ENSMUST00000168330] [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

probably damaging
Transcript: ENSMUST00000070118
AA Change: C306S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064719
Gene: ENSMUSG00000024909
AA Change: C306S

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: 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

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

unknown
Transcript: ENSMUST00000164388
AA Change: C39S

SMART Domains

Protein: ENSMUSP00000131979
Gene: ENSMUSG00000024909
AA Change: C39S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165485
AA Change: C287S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133016
Gene: ENSMUSG00000024909
AA Change: C287S

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

probably damaging
Transcript: ENSMUST00000166253
AA Change: C177S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127312
Gene: ENSMUSG00000024909
AA Change: C177S

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: ENSMUST00000166303

SMART Domains

Protein: ENSMUSP00000128827
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC

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 damaging
Transcript: ENSMUST00000167371
AA Change: C246S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129746
Gene: ENSMUSG00000024909
AA Change: C246S

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

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: 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

unknown
Transcript: ENSMUST00000168330
AA Change: S13R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,331 (GRCm39)	F198I	probably damaging	Het
Acy1	A	G	9: 106,314,826 (GRCm39)		probably null	Het
Adk	A	G	14: 21,126,376 (GRCm39)	M1V	probably null	Het
Ahi1	A	G	10: 20,839,590 (GRCm39)	D167G	probably benign	Het
Ankrd16	T	C	2: 11,791,054 (GRCm39)	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,251,351 (GRCm39)	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,100,769 (GRCm39)	M673I	probably damaging	Het
BC005624	T	C	2: 30,868,940 (GRCm39)	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,238,745 (GRCm39)	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,784,547 (GRCm39)	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,049,932 (GRCm39)		probably null	Het
Cep170	G	A	1: 176,589,003 (GRCm39)	L541F	possibly damaging	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Cgrrf1	T	A	14: 47,091,179 (GRCm39)	N234K	probably benign	Het
Ctrc	C	T	4: 141,568,879 (GRCm39)	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,091,945 (GRCm39)	V192M	possibly damaging	Het
Dhx38	A	T	8: 110,279,307 (GRCm39)	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,009,733 (GRCm39)	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,898,514 (GRCm39)	N3765K	possibly damaging	Het
Dnah17	C	A	11: 117,950,905 (GRCm39)	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,161,680 (GRCm39)	T306I	probably benign	Het
Efna1	T	C	3: 89,180,091 (GRCm39)	R143G	probably benign	Het
Emilin1	A	C	5: 31,074,421 (GRCm39)	N221H	probably damaging	Het
Epg5	A	G	18: 77,991,824 (GRCm39)	T174A	probably benign	Het
Fam184b	T	A	5: 45,690,243 (GRCm39)		probably null	Het
Fchsd2	T	A	7: 100,926,621 (GRCm39)	C570*	probably null	Het
Gm4787	A	T	12: 81,425,974 (GRCm39)	D61E	probably benign	Het
Gm7356	C	T	17: 14,221,925 (GRCm39)	G35R	probably damaging	Het
Gm8220	A	G	14: 44,525,645 (GRCm39)	T20A	probably damaging	Het
Hivep2	C	T	10: 14,004,245 (GRCm39)	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,733,692 (GRCm39)	V43A	probably damaging	Het
Klhl33	A	T	14: 51,129,373 (GRCm39)	C619S	probably benign	Het
Kmt2a	A	T	9: 44,740,558 (GRCm39)		probably benign	Het
Lax1	A	G	1: 133,607,896 (GRCm39)	C282R	probably benign	Het
Lrrd1	A	G	5: 3,901,395 (GRCm39)	K567E	probably benign	Het
Luzp1	C	T	4: 136,268,124 (GRCm39)	R116*	probably null	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Macrod2	A	T	2: 140,261,833 (GRCm39)	N38I	probably damaging	Het
Map3k14	A	T	11: 103,132,958 (GRCm39)	I80N	probably damaging	Het
Mcm9	A	G	10: 53,496,299 (GRCm39)	S368P	probably benign	Het
Mfge8	T	C	7: 78,793,049 (GRCm39)	D139G	probably benign	Het
Mmp19	A	T	10: 128,627,523 (GRCm39)	I54F	probably benign	Het
Myo15a	G	T	11: 60,390,320 (GRCm39)	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Myoc	A	G	1: 162,466,915 (GRCm39)	D28G	probably damaging	Het
Myrf	G	T	19: 10,196,924 (GRCm39)	N487K	probably damaging	Het
Omd	T	A	13: 49,743,710 (GRCm39)	F253L	probably damaging	Het
Or2ag19	G	T	7: 106,444,009 (GRCm39)	G64*	probably null	Het
Or5t5	C	G	2: 86,616,499 (GRCm39)	L142V	probably damaging	Het
Or6n1	G	A	1: 173,917,316 (GRCm39)	A237T	probably damaging	Het
Papss1	T	G	3: 131,305,732 (GRCm39)	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,632,675 (GRCm39)	F580Y	probably benign	Het
Polk	T	A	13: 96,653,189 (GRCm39)	K70N	probably damaging	Het
Ppig	T	A	2: 69,562,755 (GRCm39)	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,636,291 (GRCm39)	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Reln	T	C	5: 22,190,855 (GRCm39)	I1511V	probably benign	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Rpia	A	G	6: 70,750,424 (GRCm39)	V236A	probably benign	Het
Rpl10a	G	T	17: 28,548,424 (GRCm39)	V80L	probably benign	Het
Sap130	T	G	18: 31,799,407 (GRCm39)	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,120,193 (GRCm39)	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,864,778 (GRCm39)	S470P	probably benign	Het
Slc25a32	A	G	15: 38,960,984 (GRCm39)	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,771,668 (GRCm39)	S158P	probably benign	Het
Slc6a2	A	G	8: 93,722,653 (GRCm39)	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,151,936 (GRCm39)	T77K	probably benign	Het
Snd1	A	T	6: 28,626,100 (GRCm39)	D385V	probably benign	Het
Ssh3	A	T	19: 4,314,448 (GRCm39)	F369I	probably damaging	Het
Syk	A	G	13: 52,766,495 (GRCm39)		probably null	Het
Tbc1d16	A	G	11: 119,099,742 (GRCm39)	S211P	probably damaging	Het
Ttc3	A	G	16: 94,244,312 (GRCm39)	T1439A	probably benign	Het
Usp18	A	G	6: 121,229,473 (GRCm39)	M31V	probably benign	Het
Vav1	G	T	17: 57,609,330 (GRCm39)	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,655,439 (GRCm39)	V1863D	probably benign	Het
Xdh	T	A	17: 74,229,557 (GRCm39)	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,737,336 (GRCm39)		probably benign	Het
Zfp345	G	A	2: 150,315,331 (GRCm39)	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,654,667 (GRCm39)	V357L	probably benign	Het
Zfp712	A	T	13: 67,188,891 (GRCm39)	Y545*	probably null	Het
Zgrf1	T	C	3: 127,353,281 (GRCm39)		probably null	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
R4307:Efemp2	UTSW	19	5,531,649 (GRCm39)	missense	possibly damaging	0.82
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
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'- ATATCGATGAGTGCGGCTACTC -3'
(R):5'- CCCGATTAAACCAGTAGGCC -3'

Sequencing Primer
(F):5'- ATGAGTGCGGCTACTCCAGTTAC -3'
(R):5'- GATTAAACCAGTAGGCCCCACAG -3'

Posted On

2018-11-06