Mutagenetix > Incidental Mutation

Incidental Mutation 'R7096:Ecscr'

550522

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

045188-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35846139-35855409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35848478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 183 (E183V)

Ref Sequence

ENSEMBL: ENSMUSP00000095223 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000097618
AA Change: E183V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095223
Gene: ENSMUSG00000073599
AA Change: E183V

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

SMART Domains

Protein: ENSMUSP00000118479
Gene: ENSMUSG00000073599
AA Change: E139V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000133064
AA Change: E188V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118628
Gene: ENSMUSG00000073599
AA Change: E188V

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

SMART Domains

Protein: ENSMUSP00000116109
Gene: ENSMUSG00000073599
AA Change: E139V

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

Meta Mutation Damage Score

0.3111

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,888,305 (GRCm39)	M383R	probably damaging	Het
Acd	T	A	8: 106,425,121 (GRCm39)	E366V	possibly damaging	Het
Acvr2b	T	A	9: 119,257,255 (GRCm39)		probably null	Het
Alg10b	C	T	15: 90,111,564 (GRCm39)	T136I	probably benign	Het
Ankrd42	T	A	7: 92,241,040 (GRCm39)	K440*	probably null	Het
Apc	T	A	18: 34,449,010 (GRCm39)	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,019,897 (GRCm39)	Y447C	probably damaging	Het
AW146154	G	A	7: 41,130,867 (GRCm39)	A83V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Barhl1	T	G	2: 28,799,726 (GRCm39)	I300L	probably benign	Het
Brd1	C	A	15: 88,598,138 (GRCm39)	R536L	probably damaging	Het
Brms1	T	A	19: 5,096,708 (GRCm39)	I130N	probably damaging	Het
Ccdc68	A	G	18: 70,073,241 (GRCm39)	H63R	probably damaging	Het
Ccl28	A	G	13: 120,112,429 (GRCm39)	I74V	probably benign	Het
Cd300ld	T	A	11: 114,878,321 (GRCm39)	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,181,043 (GRCm39)	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,518,555 (GRCm39)	R133Q	probably benign	Het
Coq2	A	G	5: 100,811,586 (GRCm39)		probably benign	Het
Coq6	T	C	12: 84,408,595 (GRCm39)		probably null	Het
Csmd2	C	T	4: 128,356,519 (GRCm39)	S1608L		Het
Cyp11b2	T	A	15: 74,727,837 (GRCm39)	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,289,462 (GRCm39)	T217A	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,522,599 (GRCm39)	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,623,512 (GRCm39)	T3595K	probably damaging	Het
Elovl6	A	G	3: 129,398,755 (GRCm39)	N52S	probably benign	Het
Eps8l1	G	T	7: 4,477,190 (GRCm39)	A455S	probably benign	Het
Gpat2	A	G	2: 127,270,209 (GRCm39)	N74S	probably benign	Het
Gstk1	C	A	6: 42,226,407 (GRCm39)	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,295,731 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,705,339 (GRCm39)	D532G	probably benign	Het
Hoxc12	T	A	15: 102,845,473 (GRCm39)	N62K	possibly damaging	Het
Hsdl1	C	A	8: 120,293,064 (GRCm39)	A124S	possibly damaging	Het
Il11	T	C	7: 4,778,995 (GRCm39)	Y45C	probably damaging	Het
Lcat	C	T	8: 106,666,309 (GRCm39)	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,447,099 (GRCm39)	F72L	probably benign	Het
Map10	T	C	8: 126,398,662 (GRCm39)	L685P	probably damaging	Het
Me2	A	G	18: 73,927,961 (GRCm39)	V174A	probably benign	Het
Med13l	C	A	5: 118,859,991 (GRCm39)	Q328K	possibly damaging	Het
Mta2	A	T	19: 8,925,139 (GRCm39)	I336F	probably damaging	Het
Mterf1a	A	T	5: 3,941,769 (GRCm39)	I33N	probably damaging	Het
Myo15b	T	A	11: 115,782,324 (GRCm39)		probably null	Het
Myof	C	A	19: 37,924,648 (GRCm39)	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,716,516 (GRCm39)	T675M	probably damaging	Het
Or1e26	T	A	11: 73,480,463 (GRCm39)	M34L	probably benign	Het
Or5p61	C	A	7: 107,758,848 (GRCm39)	M77I	probably benign	Het
Or6c38	T	C	10: 128,929,715 (GRCm39)	I43V	probably damaging	Het
Padi3	T	C	4: 140,527,435 (GRCm39)	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,722,643 (GRCm39)	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,295,384 (GRCm39)	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,267,324 (GRCm39)	G639S	possibly damaging	Het
Piwil4	T	A	9: 14,648,112 (GRCm39)	K156*	probably null	Het
Pkmyt1	T	A	17: 23,953,087 (GRCm39)	H214Q	probably damaging	Het
Pnpt1	G	A	11: 29,104,867 (GRCm39)	R597Q	probably benign	Het
Poteg	C	A	8: 27,963,595 (GRCm39)	A344E	probably benign	Het
Rad21l	A	G	2: 151,509,840 (GRCm39)	M87T	probably benign	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,283,057 (GRCm39)	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,851,333 (GRCm39)	R871L	probably damaging	Het
Rnf135	T	C	11: 80,080,051 (GRCm39)	V114A	probably benign	Het
Skic2	T	A	17: 35,060,446 (GRCm39)	H849L	probably benign	Het
Snai2	A	G	16: 14,525,028 (GRCm39)	H178R	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Taar1	A	T	10: 23,796,809 (GRCm39)	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,187,014 (GRCm39)	D625E		Het
Tlr6	A	G	5: 65,111,119 (GRCm39)	V596A	probably benign	Het
Trak2	T	G	1: 58,942,749 (GRCm39)	N886H	probably damaging	Het
Tsga10	T	A	1: 37,879,695 (GRCm39)	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,219,196 (GRCm39)	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,682,762 (GRCm39)	L814S	probably damaging	Het
Zbbx	T	C	3: 74,989,044 (GRCm39)	D353G	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
R5820:Ecscr	UTSW	18	35,850,320 (GRCm39)	missense	possibly damaging	0.61
R6176:Ecscr	UTSW	18	35,849,813 (GRCm39)	small deletion	probably benign
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'- ACGCTGTAACTCAGATGTCCAG -3'
(R):5'- CTCAGAGCAAATATATAGTGTGCAC -3'

Sequencing Primer
(F):5'- AGATGTCCAGCTTCTCCTCAGAG -3'
(R):5'- TGCATGCGCACACACACAG -3'

Posted On

2019-05-15