Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Adgre5'

284513

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgre5

Ensembl Gene

ENSMUSG00000002885

Gene Name

adhesion G protein-coupled receptor E5

Synonyms

EGF-TM7 receptor, Cd97

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

84449874-84467812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84454913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 260 (T260A)

Ref Sequence

ENSEMBL: ENSMUSP00000128220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002964] [ENSMUST00000019576] [ENSMUST00000075843] [ENSMUST00000109802] [ENSMUST00000109810] [ENSMUST00000166939] [ENSMUST00000212949] [ENSMUST00000172396]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002964
AA Change: T262A

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885
AA Change: T262A

Domain	Start	End	E-Value	Type
EGF	30	68	1.63e1	SMART
EGF_CA	69	119	5.92e-8	SMART
EGF_CA	120	167	1.78e-11	SMART
GPS	384	430	2.18e-8	SMART
Pfam:Dicty_CAR	431	703	1.3e-8	PFAM
Pfam:7tm_2	432	672	8.1e-68	PFAM
low complexity region	704	714	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019576

SMART Domains

Protein: ENSMUSP00000019576
Gene: ENSMUSG00000005481

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
DEXDc	63	264	4.06e-54	SMART
HELICc	300	381	9.09e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000075843
AA Change: T356A

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

SMART Domains

Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
AA Change: T356A

Domain	Start	End	E-Value	Type
EGF	30	68	1.63e1	SMART
EGF_CA	69	119	5.92e-8	SMART
EGF_CA	165	213	1.38e-8	SMART
EGF_CA	214	261	1.78e-11	SMART
GPS	478	524	2.18e-8	SMART
Pfam:Dicty_CAR	525	798	4.6e-8	PFAM
Pfam:7tm_2	526	766	5.3e-68	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109802
AA Change: T311A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
AA Change: T311A

Domain	Start	End	E-Value	Type
EGF	30	68	1.63e1	SMART
EGF_CA	69	119	5.92e-8	SMART
EGF_CA	120	168	1.38e-8	SMART
EGF_CA	169	216	1.78e-11	SMART
GPS	433	479	2.18e-8	SMART
Pfam:Dicty_CAR	480	752	5.3e-8	PFAM
Pfam:7tm_2	481	721	7.5e-67	PFAM
low complexity region	753	763	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109810

SMART Domains

Protein: ENSMUSP00000105435
Gene: ENSMUSG00000005481

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
DEXDc	63	264	4.06e-54	SMART
HELICc	300	381	9.09e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140606

Predicted Effect

probably damaging
Transcript: ENSMUST00000166939
AA Change: T260A

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

SMART Domains

Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885
AA Change: T260A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
EGF	28	66	1.63e1	SMART
EGF_CA	67	117	5.92e-8	SMART
EGF_CA	118	165	1.78e-11	SMART
GPS	382	428	2.18e-8	SMART
Pfam:Dicty_CAR	429	701	2.1e-7	PFAM
Pfam:7tm_2	430	670	1.7e-66	PFAM
low complexity region	702	712	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184114

Predicted Effect

probably benign
Transcript: ENSMUST00000212949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154075

Predicted Effect

probably benign
Transcript: ENSMUST00000172396

SMART Domains

Protein: ENSMUSP00000132222
Gene: ENSMUSG00000005481

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
DEXDc	63	264	4.06e-54	SMART
HELICc	300	381	9.09e-25	SMART

Meta Mutation Damage Score

0.3010

Coding Region Coverage

Validation Efficiency

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 EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype apart from mild granulocytosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,992,993 (GRCm39)	E702G	probably damaging	Het
Agap3	A	T	5: 24,704,934 (GRCm39)	T660S	probably benign	Het
Amotl2	A	T	9: 102,601,896 (GRCm39)	E380V	probably damaging	Het
Ap4e1	A	G	2: 126,853,736 (GRCm39)	E58G	probably damaging	Het
Arap3	G	A	18: 38,120,906 (GRCm39)	A713V	probably benign	Het
B4galt2	T	C	4: 117,738,718 (GRCm39)	D33G	probably damaging	Het
Bbs7	A	T	3: 36,658,639 (GRCm39)	S212T	probably benign	Het
Ccl26	A	G	5: 135,592,224 (GRCm39)	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261 (GRCm39)	S339C	probably benign	Het
Cd55	A	G	1: 130,380,156 (GRCm39)	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,074,577 (GRCm39)		probably null	Het
Cert1	T	C	13: 96,761,300 (GRCm39)		probably null	Het
Chrnb4	T	C	9: 54,942,500 (GRCm39)	D258G	probably damaging	Het
Commd3	T	C	2: 18,678,819 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,381,180 (GRCm39)	R59L	probably damaging	Het
Edar	G	T	10: 58,446,343 (GRCm39)	T194K	probably damaging	Het
Edem3	A	G	1: 151,684,111 (GRCm39)	I733V	possibly damaging	Het
Elmod2	T	C	8: 84,048,135 (GRCm39)	Y109C	probably benign	Het
Eps15	C	T	4: 109,161,945 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,412 (GRCm39)	V1937A	probably benign	Het
Fdx2	T	A	9: 20,979,415 (GRCm39)		probably null	Het
Flg2	A	T	3: 93,127,435 (GRCm39)	I2116F	unknown	Het
Gm15091	A	G	X: 148,760,462 (GRCm39)	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,791,823 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,311,947 (GRCm39)	V60M	possibly damaging	Het
Grip1	G	A	10: 119,911,214 (GRCm39)	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,482,390 (GRCm39)	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,669,403 (GRCm39)	A294V	probably benign	Het
Herc4	G	A	10: 63,135,023 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,274,572 (GRCm39)	Y748C	probably benign	Het
Il20ra	A	G	10: 19,627,326 (GRCm39)	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,419,536 (GRCm39)		probably null	Het
Kif18a	A	T	2: 109,127,052 (GRCm39)	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,758,979 (GRCm39)	I957F	probably damaging	Het
Krt1	A	G	15: 101,757,051 (GRCm39)	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,379,434 (GRCm39)	V1768G	probably damaging	Het
Nek9	A	T	12: 85,350,257 (GRCm39)	L939*	probably null	Het
Nfe2l2	A	G	2: 75,508,869 (GRCm39)	L122P	probably damaging	Het
Nin	T	C	12: 70,103,431 (GRCm39)	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,097,190 (GRCm39)	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,287,927 (GRCm39)	M71V	probably benign	Het
Ocstamp	T	C	2: 165,239,583 (GRCm39)	H201R	possibly damaging	Het
Oog4	T	C	4: 143,165,510 (GRCm39)	I212M	probably benign	Het
Or11g2	G	A	14: 50,856,015 (GRCm39)	G112D	probably damaging	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Osmr	T	C	15: 6,876,628 (GRCm39)	T99A	probably benign	Het
Pdia4	A	T	6: 47,773,741 (GRCm39)	M536K	probably benign	Het
Pdyn	A	T	2: 129,530,438 (GRCm39)	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,290,837 (GRCm39)		probably null	Het
Plcb1	A	G	2: 135,229,091 (GRCm39)	E1105G	probably damaging	Het
Rb1	A	T	14: 73,443,525 (GRCm39)	D743E	probably damaging	Het
Rdh14	G	A	12: 10,444,712 (GRCm39)	V188I	possibly damaging	Het
Scd3	T	C	19: 44,204,028 (GRCm39)	V72A	possibly damaging	Het
Shld1	A	T	2: 132,533,866 (GRCm39)		probably benign	Het
Slc25a27	G	A	17: 43,972,575 (GRCm39)	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,704,640 (GRCm39)	D394G	possibly damaging	Het
Slco1a8	A	T	6: 141,936,158 (GRCm39)	I309N	possibly damaging	Het
Snx29	T	G	16: 11,556,216 (GRCm39)	M407R	probably damaging	Het
Syf2	A	G	4: 134,662,363 (GRCm39)		probably null	Het
Syn1	T	C	X: 20,731,376 (GRCm39)	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,905,091 (GRCm39)	D602V	probably damaging	Het
Tenm4	A	T	7: 96,523,323 (GRCm39)	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785 (GRCm39)		probably benign	Het
Trav6-2	G	A	14: 52,904,889 (GRCm39)	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,272,813 (GRCm39)	S53P	probably benign	Het
Vmp1	T	A	11: 86,498,019 (GRCm39)	I299F	possibly damaging	Het
Xpot	T	C	10: 121,449,485 (GRCm39)	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,345,525 (GRCm39)		probably null	Het

Other mutations in Adgre5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Adgre5	APN	8	84,455,030 (GRCm39)	missense	probably benign	0.01
IGL01365:Adgre5	APN	8	84,450,518 (GRCm39)	splice site	probably null
IGL01661:Adgre5	APN	8	84,454,564 (GRCm39)	missense	probably damaging	0.99
IGL01707:Adgre5	APN	8	84,450,976 (GRCm39)	missense	probably damaging	1.00
IGL01760:Adgre5	APN	8	84,458,586 (GRCm39)	missense	probably benign	0.02
IGL02483:Adgre5	APN	8	84,451,882 (GRCm39)	missense	probably damaging	1.00
IGL03194:Adgre5	APN	8	84,460,647 (GRCm39)	missense	possibly damaging	0.67
BB001:Adgre5	UTSW	8	84,456,029 (GRCm39)	missense	possibly damaging	0.85
BB011:Adgre5	UTSW	8	84,456,029 (GRCm39)	missense	possibly damaging	0.85
PIT4453001:Adgre5	UTSW	8	84,451,089 (GRCm39)	missense	probably benign	0.08
R0024:Adgre5	UTSW	8	84,454,913 (GRCm39)	missense	probably damaging	1.00
R0137:Adgre5	UTSW	8	84,451,527 (GRCm39)	missense	probably damaging	1.00
R0257:Adgre5	UTSW	8	84,458,624 (GRCm39)	missense	possibly damaging	0.54
R0485:Adgre5	UTSW	8	84,458,627 (GRCm39)	missense	probably damaging	0.99
R0522:Adgre5	UTSW	8	84,456,805 (GRCm39)	missense	probably benign	0.30
R0940:Adgre5	UTSW	8	84,460,126 (GRCm39)	missense	probably damaging	1.00
R1372:Adgre5	UTSW	8	84,454,949 (GRCm39)	missense	probably damaging	0.96
R1617:Adgre5	UTSW	8	84,456,806 (GRCm39)	missense	possibly damaging	0.50
R1679:Adgre5	UTSW	8	84,456,034 (GRCm39)	missense	probably benign	0.09
R1917:Adgre5	UTSW	8	84,455,738 (GRCm39)	missense	probably damaging	0.99
R1918:Adgre5	UTSW	8	84,455,738 (GRCm39)	missense	probably damaging	0.99
R2072:Adgre5	UTSW	8	84,454,433 (GRCm39)	missense	probably benign	0.24
R2831:Adgre5	UTSW	8	84,455,023 (GRCm39)	missense	possibly damaging	0.80
R5250:Adgre5	UTSW	8	84,460,069 (GRCm39)	missense	probably benign
R5512:Adgre5	UTSW	8	84,455,715 (GRCm39)	missense	probably benign
R6077:Adgre5	UTSW	8	84,454,595 (GRCm39)	missense	probably benign
R7486:Adgre5	UTSW	8	84,450,515 (GRCm39)	missense	probably damaging	1.00
R7733:Adgre5	UTSW	8	84,456,025 (GRCm39)	missense	probably benign	0.06
R7924:Adgre5	UTSW	8	84,456,029 (GRCm39)	missense	possibly damaging	0.85
R8388:Adgre5	UTSW	8	84,456,815 (GRCm39)	missense	probably damaging	1.00
R9138:Adgre5	UTSW	8	84,452,563 (GRCm39)	missense	probably benign	0.29
R9625:Adgre5	UTSW	8	84,450,658 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16