Mutagenetix > Incidental Mutation

Incidental Mutation 'R5820:Ecscr'

449902

Institutional Source

Beutler Lab

Gene Symbol

Ecscr

Ensembl Gene

ENSMUSG00000073599

Gene Name

endothelial cell surface expressed chemotaxis and apoptosis regulator

Synonyms

1110006O17Rik, ARIA

MMRRC Submission

043400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35846139-35855409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35850320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 52 (V52F)

Ref Sequence

ENSEMBL: ENSMUSP00000095223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097618] [ENSMUST00000133064]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097618
AA Change: V52F

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095223
Gene: ENSMUSG00000073599
AA Change: V52F

Domain	Start	End	E-Value	Type
low complexity region	33	43	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	130	140	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123973
AA Change: V8F

SMART Domains

Protein: ENSMUSP00000118479
Gene: ENSMUSG00000073599
AA Change: V8F

Domain	Start	End	E-Value	Type
low complexity region	53	65	N/A	INTRINSIC
Pfam:ECSCR	83	156	2.8e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124237

Predicted Effect

probably benign
Transcript: ENSMUST00000133064
AA Change: V57F

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118628
Gene: ENSMUSG00000073599
AA Change: V57F

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
low complexity region	101	113	N/A	INTRINSIC
Pfam:ECSCR	131	233	7.3e-60	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000134656
AA Change: V8F

SMART Domains

Protein: ENSMUSP00000116109
Gene: ENSMUSG00000073599
AA Change: V8F

Domain	Start	End	E-Value	Type
low complexity region	53	65	N/A	INTRINSIC
Pfam:ECSCR	83	160	2.3e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143778

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit nonfatal embryonic hemorrhage and enhanced ischemia-induced neovascularization. Mice homozygous for a different knock-out allele show increased fasting plasma triglyceride and free fatty acid levels and altered white adipocyte lipolysis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,841,607 (GRCm39)	Y596H	probably benign	Het
Adgrg3	A	T	8: 95,766,221 (GRCm39)	M351L	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef38	A	T	3: 132,866,560 (GRCm39)	D192E	probably benign	Het
Arhgef40	T	C	14: 52,224,953 (GRCm39)	F33L	possibly damaging	Het
Arid1b	A	G	17: 5,046,529 (GRCm39)	Y439C	possibly damaging	Het
Bltp1	T	C	3: 37,093,675 (GRCm39)	V875A	probably benign	Het
Bop1	G	A	15: 76,339,041 (GRCm39)	P386S	probably damaging	Het
Cacna1s	A	G	1: 136,007,342 (GRCm39)	H453R	probably damaging	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Chfr	T	A	5: 110,310,605 (GRCm39)	D475E	possibly damaging	Het
Clcn7	A	C	17: 25,368,026 (GRCm39)	K208T	probably damaging	Het
Cmya5	G	T	13: 93,229,288 (GRCm39)	N1933K	probably benign	Het
CN725425	A	G	15: 91,144,900 (GRCm39)	T588A	possibly damaging	Het
Cwh43	G	A	5: 73,585,975 (GRCm39)	W358*	probably null	Het
Cyfip2	A	T	11: 46,091,531 (GRCm39)	W1130R	probably damaging	Het
Ddx60	A	T	8: 62,409,155 (GRCm39)	D397V	possibly damaging	Het
Disp1	T	C	1: 182,917,151 (GRCm39)	S92G	probably benign	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Epha7	A	T	4: 28,949,365 (GRCm39)	N712I	probably damaging	Het
Eva1a	C	T	6: 82,048,154 (GRCm39)	P11S	probably benign	Het
Fam187b	T	C	7: 30,676,577 (GRCm39)	C29R	probably damaging	Het
Fau	T	C	19: 6,109,452 (GRCm39)	V117A	probably benign	Het
Fbxw11	A	G	11: 32,685,374 (GRCm39)	D369G	probably damaging	Het
Fkbp15	A	G	4: 62,263,783 (GRCm39)	F95L	probably benign	Het
Fkbp6	A	T	5: 135,368,774 (GRCm39)		probably null	Het
Fmo9	T	C	1: 166,492,170 (GRCm39)	K367E	possibly damaging	Het
Gad2	T	C	2: 22,580,261 (GRCm39)	V554A	probably benign	Het
Gm18025	T	C	12: 34,340,631 (GRCm39)	D154G	probably benign	Het
Gm4353	A	G	7: 115,683,693 (GRCm39)	F34S	possibly damaging	Het
Gucy2e	A	G	11: 69,123,522 (GRCm39)	I459T	probably benign	Het
Hpx	A	G	7: 105,240,995 (GRCm39)	I426T	possibly damaging	Het
Hspa9	T	C	18: 35,076,227 (GRCm39)	T362A	possibly damaging	Het
Insr	G	A	8: 3,205,976 (GRCm39)	P1271L	probably damaging	Het
Jarid2	G	A	13: 45,055,777 (GRCm39)	V328I	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif18b	A	G	11: 102,803,874 (GRCm39)	S429P	probably benign	Het
Lats1	A	T	10: 7,581,672 (GRCm39)	H819L	probably damaging	Het
Lmnb1	T	A	18: 56,873,858 (GRCm39)	D421E	possibly damaging	Het
Lrp4	T	C	2: 91,322,960 (GRCm39)	I1148T	probably damaging	Het
Map1b	T	A	13: 99,569,332 (GRCm39)	M1130L	unknown	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Myh6	T	C	14: 55,196,137 (GRCm39)	Y554C	probably damaging	Het
Myl4	T	C	11: 104,474,806 (GRCm39)	F52L	probably damaging	Het
Nol12	C	T	15: 78,824,680 (GRCm39)	T169I	probably benign	Het
Nrde2	C	T	12: 100,098,546 (GRCm39)	R707H	probably benign	Het
Oasl1	G	A	5: 115,075,037 (GRCm39)	V366M	possibly damaging	Het
Or8b47	T	C	9: 38,435,895 (GRCm39)	I289T	possibly damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polrmt	C	T	10: 79,574,157 (GRCm39)		probably null	Het
Ppil4	A	G	10: 7,686,174 (GRCm39)	D344G	probably null	Het
Ppp2r3d	C	T	9: 124,422,765 (GRCm38)	A69T	possibly damaging	Het
Prmt3	C	T	7: 49,498,554 (GRCm39)	P487S	probably damaging	Het
Ptprm	A	T	17: 66,996,460 (GRCm39)	L1209H	probably damaging	Het
Rnf115	G	A	3: 96,635,164 (GRCm39)		probably benign	Het
Sec63	A	G	10: 42,672,241 (GRCm39)	D185G	possibly damaging	Het
Sema4b	T	C	7: 79,874,706 (GRCm39)	S699P	probably damaging	Het
Serpinb3d	T	G	1: 107,006,089 (GRCm39)	E333A	probably damaging	Het
Sh3rf2	T	C	18: 42,274,112 (GRCm39)	L426P	possibly damaging	Het
Slco6d1	A	G	1: 98,427,503 (GRCm39)	I611M	probably damaging	Het
Stk31	T	A	6: 49,394,219 (GRCm39)	Y194N	probably damaging	Het
Tlr9	G	A	9: 106,099,906 (GRCm39)		probably null	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Vmn1r188	G	A	13: 22,272,256 (GRCm39)	G70D	possibly damaging	Het
Zfp318	A	G	17: 46,723,699 (GRCm39)	M1901V	probably benign	Het
Zfp407	A	T	18: 84,578,649 (GRCm39)	D821E	probably benign	Het

Other mutations in Ecscr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02664:Ecscr	APN	18	35,854,451 (GRCm39)	missense	possibly damaging	0.92
IGL02879:Ecscr	APN	18	35,846,731 (GRCm39)	missense	possibly damaging	0.93
R0538:Ecscr	UTSW	18	35,846,689 (GRCm39)	intron	probably benign
R2070:Ecscr	UTSW	18	35,848,490 (GRCm39)	missense	probably damaging	0.99
R3898:Ecscr	UTSW	18	35,846,705 (GRCm39)	missense	possibly damaging	0.47
R6176:Ecscr	UTSW	18	35,849,813 (GRCm39)	small deletion	probably benign
R7096:Ecscr	UTSW	18	35,848,478 (GRCm39)	missense	probably damaging	1.00
R7185:Ecscr	UTSW	18	35,849,857 (GRCm39)	missense	probably benign	0.01
R9497:Ecscr	UTSW	18	35,851,436 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTATCCAGGCATATCTAGGGCC -3'
(R):5'- AAGACCTTCCCAATCTCAGGGG -3'

Sequencing Primer
(F):5'- GGCATATCTAGGGCCCATCAC -3'
(R):5'- CCTCCAGGAATTGAAGGCGTTG -3'

Posted On

2016-12-20