Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02618:Adgre1'

300742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgre1

Ensembl Gene

ENSMUSG00000004730

Gene Name

adhesion G protein-coupled receptor E1

Synonyms

DD7A5-7, EGF-TM7, Emr1, Ly71, F4/80, TM7LN3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

IGL02618

Quality Score

Status

Chromosome

Chromosomal Location

57665691-57790527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57751021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 565 (V565E)

Ref Sequence

ENSEMBL: ENSMUSP00000083971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004850] [ENSMUST00000086763]

AlphaFold

Q61549

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004850
AA Change: V565E

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: V565E

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
EGF	35	80	1.43e-1	SMART
EGF_CA	81	122	3.59e-7	SMART
EGF_CA	133	172	4.56e-9	SMART
EGF_CA	173	221	1.29e-8	SMART
EGF_CA	222	271	2.31e-10	SMART
EGF_CA	272	318	1.06e-9	SMART
EGF_CA	319	367	1.18e-7	SMART
GPS	591	641	2.57e-19	SMART
Pfam:7tm_2	644	885	2.1e-63	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086763
AA Change: V565E

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: V565E

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
EGF	35	80	1.43e-1	SMART
EGF_CA	81	122	3.59e-7	SMART
EGF_CA	133	172	4.56e-9	SMART
EGF_CA	173	221	1.29e-8	SMART
EGF_CA	222	271	2.31e-10	SMART
EGF_CA	272	318	1.06e-9	SMART
EGF_CA	319	367	1.18e-7	SMART
GPS	591	641	2.57e-19	SMART
Pfam:7tm_2	644	885	2.1e-63	PFAM

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 protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice fail to develop peripheral tolerance after inoculation with antigen because of a lack of efferent regulatory T cell development. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Chemically induced(1)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	A	12: 55,104,086 (GRCm39)	Q178*	probably null	Het
Arfgef2	C	A	2: 166,695,233 (GRCm39)	N535K	probably damaging	Het
Bbx	A	G	16: 50,068,161 (GRCm39)	L161S	probably damaging	Het
Bclaf1	T	C	10: 20,199,274 (GRCm39)	S224P	probably damaging	Het
Car2	A	G	3: 14,963,032 (GRCm39)	D189G	probably benign	Het
Catsperb	A	T	12: 101,446,983 (GRCm39)		probably benign	Het
Ccdc88c	C	T	12: 100,879,812 (GRCm39)	V1770I	probably benign	Het
Cebpe	T	C	14: 54,948,234 (GRCm39)	D203G	probably damaging	Het
Chn2	A	G	6: 54,197,422 (GRCm39)	N104S	probably damaging	Het
Clec2i	G	A	6: 128,873,464 (GRCm39)	C231Y	probably damaging	Het
Col4a5	C	T	X: 140,466,678 (GRCm39)	P1557S	probably damaging	Het
Creb3l1	T	C	2: 91,813,543 (GRCm39)	N498S	probably benign	Het
Ctnnal1	A	T	4: 56,817,060 (GRCm39)	D587E	probably benign	Het
Dnmt3l	T	C	10: 77,889,856 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,971,265 (GRCm39)	V100A	probably benign	Het
Frk	C	T	10: 34,459,960 (GRCm39)	T185I	possibly damaging	Het
Frmd4b	G	A	6: 97,285,066 (GRCm39)	Q340*	probably null	Het
Lima1	C	A	15: 99,700,097 (GRCm39)		probably benign	Het
Mtcl2	A	G	2: 156,882,486 (GRCm39)	L522P	probably damaging	Het
Ndrg1	G	A	15: 66,812,086 (GRCm39)	H202Y	probably benign	Het
Nxpe2	T	G	9: 48,237,634 (GRCm39)	N207T	probably damaging	Het
Or5ac19	A	T	16: 59,089,290 (GRCm39)	S247T	probably damaging	Het
Pdzph1	T	C	17: 59,186,068 (GRCm39)		probably benign	Het
Pinx1	A	G	14: 64,105,969 (GRCm39)	D75G	probably damaging	Het
Plxdc1	A	T	11: 97,823,130 (GRCm39)	D370E	probably benign	Het
Polb	A	T	8: 23,127,109 (GRCm39)	L228Q	probably damaging	Het
Rab3gap2	T	A	1: 184,983,938 (GRCm39)	I521N	possibly damaging	Het
Rapgef1	A	G	2: 29,627,955 (GRCm39)	D1045G	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Src	A	T	2: 157,306,698 (GRCm39)	K234*	probably null	Het
Stk36	C	A	1: 74,670,834 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,038,388 (GRCm39)	C412F	probably benign	Het
Zfp58	A	G	13: 67,639,475 (GRCm39)	F339L	possibly damaging	Het

Other mutations in Adgre1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Adgre1	APN	17	57,757,055 (GRCm39)	missense	probably benign	0.00
IGL00966:Adgre1	APN	17	57,726,335 (GRCm39)	missense	probably benign	0.04
IGL01680:Adgre1	APN	17	57,709,620 (GRCm39)	missense	unknown
IGL01724:Adgre1	APN	17	57,751,064 (GRCm39)	nonsense	probably null
IGL02172:Adgre1	APN	17	57,785,879 (GRCm39)	missense	probably damaging	1.00
IGL02260:Adgre1	APN	17	57,754,891 (GRCm39)	missense	probably benign	0.01
IGL02272:Adgre1	APN	17	57,757,021 (GRCm39)	nonsense	probably null
IGL02336:Adgre1	APN	17	57,718,024 (GRCm39)	nonsense	probably null
IGL02346:Adgre1	APN	17	57,750,919 (GRCm39)	missense	probably benign	0.15
IGL02398:Adgre1	APN	17	57,709,824 (GRCm39)	nonsense	probably null
IGL02690:Adgre1	APN	17	57,787,921 (GRCm39)	missense	probably damaging	1.00
IGL02936:Adgre1	APN	17	57,785,833 (GRCm39)	missense	probably benign	0.26
IGL03112:Adgre1	APN	17	57,755,029 (GRCm39)	splice site	probably null
IGL03350:Adgre1	APN	17	57,708,908 (GRCm39)	missense	probably benign	0.16
F480	UTSW	17	57,751,063 (GRCm39)	missense	probably damaging	1.00
lomax	UTSW	17	57,709,811 (GRCm39)	missense	unknown
Onion	UTSW	17	57,709,841 (GRCm39)	nonsense	probably null
Scallion	UTSW	17	57,708,977 (GRCm39)	missense	possibly damaging	0.90
R0049:Adgre1	UTSW	17	57,709,841 (GRCm39)	nonsense	probably null
R0153:Adgre1	UTSW	17	57,750,939 (GRCm39)	missense	possibly damaging	0.92
R0277:Adgre1	UTSW	17	57,751,060 (GRCm39)	missense	probably benign	0.00
R0278:Adgre1	UTSW	17	57,754,872 (GRCm39)	missense	probably benign	0.07
R0323:Adgre1	UTSW	17	57,751,060 (GRCm39)	missense	probably benign	0.00
R0389:Adgre1	UTSW	17	57,713,839 (GRCm39)	missense	possibly damaging	0.80
R0492:Adgre1	UTSW	17	57,709,742 (GRCm39)	missense	unknown
R0621:Adgre1	UTSW	17	57,748,359 (GRCm39)	missense	probably damaging	0.98
R0647:Adgre1	UTSW	17	57,718,003 (GRCm39)	missense	probably damaging	1.00
R1310:Adgre1	UTSW	17	57,754,936 (GRCm39)	missense	probably benign	0.00
R1601:Adgre1	UTSW	17	57,748,353 (GRCm39)	missense	probably benign	0.01
R1689:Adgre1	UTSW	17	57,756,921 (GRCm39)	missense	probably benign	0.31
R1708:Adgre1	UTSW	17	57,708,974 (GRCm39)	missense	possibly damaging	0.93
R1796:Adgre1	UTSW	17	57,748,350 (GRCm39)	missense	probably benign	0.43
R1839:Adgre1	UTSW	17	57,748,299 (GRCm39)	missense	probably benign	0.00
R1860:Adgre1	UTSW	17	57,748,363 (GRCm39)	missense	probably benign	0.00
R2165:Adgre1	UTSW	17	57,726,338 (GRCm39)	missense	probably damaging	0.97
R2219:Adgre1	UTSW	17	57,708,912 (GRCm39)	missense	possibly damaging	0.92
R2519:Adgre1	UTSW	17	57,717,956 (GRCm39)	missense	probably damaging	1.00
R3874:Adgre1	UTSW	17	57,708,925 (GRCm39)	missense	probably benign	0.08
R3911:Adgre1	UTSW	17	57,754,860 (GRCm39)	missense	probably damaging	1.00
R4190:Adgre1	UTSW	17	57,709,811 (GRCm39)	missense	unknown
R4439:Adgre1	UTSW	17	57,754,954 (GRCm39)	missense	probably damaging	1.00
R4513:Adgre1	UTSW	17	57,717,947 (GRCm39)	missense	probably benign	0.34
R4529:Adgre1	UTSW	17	57,727,519 (GRCm39)	missense	possibly damaging	0.92
R4543:Adgre1	UTSW	17	57,713,874 (GRCm39)	missense	probably benign	0.07
R4610:Adgre1	UTSW	17	57,757,073 (GRCm39)	missense	possibly damaging	0.50
R4665:Adgre1	UTSW	17	57,787,947 (GRCm39)	missense	probably benign	0.20
R4911:Adgre1	UTSW	17	57,754,832 (GRCm39)	missense	possibly damaging	0.57
R4928:Adgre1	UTSW	17	57,751,064 (GRCm39)	nonsense	probably null
R4942:Adgre1	UTSW	17	57,713,903 (GRCm39)	missense	probably damaging	1.00
R4946:Adgre1	UTSW	17	57,750,918 (GRCm39)	missense	probably benign	0.33
R4953:Adgre1	UTSW	17	57,748,321 (GRCm39)	missense	probably damaging	0.99
R5107:Adgre1	UTSW	17	57,708,977 (GRCm39)	missense	possibly damaging	0.90
R5366:Adgre1	UTSW	17	57,709,817 (GRCm39)	missense	probably benign	0.39
R5590:Adgre1	UTSW	17	57,752,034 (GRCm39)	missense	probably damaging	1.00
R5619:Adgre1	UTSW	17	57,727,437 (GRCm39)	missense	probably benign	0.15
R5699:Adgre1	UTSW	17	57,788,007 (GRCm39)	missense	probably benign	0.43
R5734:Adgre1	UTSW	17	57,750,990 (GRCm39)	missense	probably benign	0.00
R5860:Adgre1	UTSW	17	57,752,034 (GRCm39)	missense	probably damaging	1.00
R6039:Adgre1	UTSW	17	57,713,859 (GRCm39)	missense	probably benign	0.28
R6039:Adgre1	UTSW	17	57,713,859 (GRCm39)	missense	probably benign	0.28
R6149:Adgre1	UTSW	17	57,752,018 (GRCm39)	missense	probably benign	0.08
R6478:Adgre1	UTSW	17	57,708,955 (GRCm39)	missense	possibly damaging	0.81
R6709:Adgre1	UTSW	17	57,713,917 (GRCm39)	missense	probably benign	0.10
R6864:Adgre1	UTSW	17	57,785,879 (GRCm39)	missense	probably damaging	1.00
R6945:Adgre1	UTSW	17	57,727,399 (GRCm39)	missense	probably benign	0.39
R6945:Adgre1	UTSW	17	57,717,844 (GRCm39)	missense	probably benign	0.01
R6988:Adgre1	UTSW	17	57,715,445 (GRCm39)	missense	probably benign	0.00
R7019:Adgre1	UTSW	17	57,717,945 (GRCm39)	missense	probably damaging	0.98
R7154:Adgre1	UTSW	17	57,751,087 (GRCm39)	splice site	probably null
R7347:Adgre1	UTSW	17	57,727,441 (GRCm39)	missense	probably damaging	1.00
R7459:Adgre1	UTSW	17	57,756,933 (GRCm39)	missense	probably damaging	1.00
R7709:Adgre1	UTSW	17	57,709,519 (GRCm39)	missense	unknown
R7939:Adgre1	UTSW	17	57,756,938 (GRCm39)	missense	probably damaging	0.98
R7977:Adgre1	UTSW	17	57,754,987 (GRCm39)	missense	possibly damaging	0.54
R7987:Adgre1	UTSW	17	57,754,987 (GRCm39)	missense	possibly damaging	0.54
R8187:Adgre1	UTSW	17	57,727,349 (GRCm39)	missense	probably benign	0.00
R8210:Adgre1	UTSW	17	57,752,061 (GRCm39)	missense	possibly damaging	0.94
R8223:Adgre1	UTSW	17	57,668,692 (GRCm39)	missense	probably damaging	0.99
R8344:Adgre1	UTSW	17	57,715,459 (GRCm39)	missense	probably benign	0.12
R8698:Adgre1	UTSW	17	57,709,003 (GRCm39)	missense	probably benign	0.05
R9236:Adgre1	UTSW	17	57,709,782 (GRCm39)	nonsense	probably null
R9262:Adgre1	UTSW	17	57,754,941 (GRCm39)	missense	probably damaging	1.00
R9303:Adgre1	UTSW	17	57,748,275 (GRCm39)	missense	probably benign	0.00
R9305:Adgre1	UTSW	17	57,748,275 (GRCm39)	missense	probably benign	0.00
R9605:Adgre1	UTSW	17	57,718,083 (GRCm39)	missense	probably benign	0.00
R9661:Adgre1	UTSW	17	57,748,368 (GRCm39)	missense	possibly damaging	0.70
R9678:Adgre1	UTSW	17	57,750,997 (GRCm39)	missense	probably damaging	0.96
R9751:Adgre1	UTSW	17	57,757,101 (GRCm39)	missense	probably null	0.06
R9785:Adgre1	UTSW	17	57,785,930 (GRCm39)	missense	probably damaging	1.00
Z1176:Adgre1	UTSW	17	57,668,729 (GRCm39)	missense	possibly damaging	0.76
Z1177:Adgre1	UTSW	17	57,726,374 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16