Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Adgre1'

291762

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 #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

57665691-57790527 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57709824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 160 (C160*)

Ref Sequence

ENSEMBL: ENSMUSP00000083971 (fasta)

Gene Model

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

AlphaFold

Q61549

Predicted Effect

probably null
Transcript: ENSMUST00000004850
AA Change: C160*

SMART Domains

Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: C160*

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

probably null
Transcript: ENSMUST00000086763
AA Change: C160*

SMART Domains

Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: C160*

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	C	T	9: 3,345,870 (GRCm39)	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,397,702 (GRCm39)	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,696 (GRCm39)	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,172,833 (GRCm39)	M231L	probably benign	Het
Cog7	A	G	7: 121,563,432 (GRCm39)	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspg4	A	T	9: 56,793,970 (GRCm39)	E568D	probably benign	Het
Cwc27	G	A	13: 104,940,762 (GRCm39)	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,688,467 (GRCm39)	I330V	probably benign	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dhrs7	G	A	12: 72,711,466 (GRCm39)	R24C	probably damaging	Het
Ehmt2	T	A	17: 35,127,455 (GRCm39)	C838S	probably damaging	Het
Fn1	A	T	1: 71,657,829 (GRCm39)		probably null	Het
Gjb3	T	A	4: 127,219,855 (GRCm39)	S226C	probably benign	Het
Gm14496	A	G	2: 181,637,963 (GRCm39)	I346V	probably benign	Het
Gm8050	T	C	14: 17,930,894 (GRCm39)	E172G	probably damaging	Het
Higd1a	G	A	9: 121,681,590 (GRCm39)	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,678,648 (GRCm39)	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,110,755 (GRCm39)	I161F	probably damaging	Het
Lrp8	G	T	4: 107,704,691 (GRCm39)	V304F	probably damaging	Het
Lrp8	C	A	4: 107,726,245 (GRCm39)	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,513,677 (GRCm39)	M513L	probably benign	Het
Myo18b	A	T	5: 112,978,178 (GRCm39)	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,797,050 (GRCm39)	N945K	probably damaging	Het
Nipbl	A	G	15: 8,356,574 (GRCm39)	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,989,568 (GRCm39)	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or2a56	A	T	6: 42,933,046 (GRCm39)	I205F	probably benign	Het
Or52r1c	G	A	7: 102,735,313 (GRCm39)	C191Y	probably damaging	Het
Or8k22	A	T	2: 86,162,868 (GRCm39)	Y277*	probably null	Het
Parp8	A	G	13: 117,047,399 (GRCm39)		probably null	Het
Pde4dip	T	C	3: 97,674,097 (GRCm39)	Y273C	probably benign	Het
Pgbd5	C	T	8: 125,111,257 (GRCm39)	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,646,424 (GRCm39)		probably benign	Het
Piezo1	A	T	8: 123,213,302 (GRCm39)	S1819R	probably benign	Het
Polr1a	T	C	6: 71,913,540 (GRCm39)		probably benign	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prlhr	G	T	19: 60,455,753 (GRCm39)	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,905,114 (GRCm39)	S132R	probably damaging	Het
Ros1	T	A	10: 52,020,980 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,677,767 (GRCm39)	D1327G	probably benign	Het
Slit1	A	C	19: 41,590,676 (GRCm39)	V1332G	probably damaging	Het
Spin2h	A	G	X: 32,162,153 (GRCm39)	D224G	probably damaging	Het
Tmem178b	A	G	6: 40,184,461 (GRCm39)	M120V	probably damaging	Het
Trim25	T	C	11: 88,890,630 (GRCm39)	C106R	probably damaging	Het
Trim35	A	G	14: 66,546,697 (GRCm39)	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,840,703 (GRCm39)	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,536 (GRCm39)	I315K	probably benign	Het
Zfp654	A	G	16: 64,606,381 (GRCm39)	V607A	probably benign	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
IGL02618:Adgre1	APN	17	57,751,021 (GRCm39)	missense	possibly damaging	0.66
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