Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00966:Adgre1'

29332

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 #

IGL00966

Quality Score

Status

Chromosome

Chromosomal Location

57665691-57790527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57726335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 402 (T402K)

Ref Sequence

ENSEMBL: ENSMUSP00000083971 (fasta)

Gene Model

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

AlphaFold

Q61549

Predicted Effect

probably benign
Transcript: ENSMUST00000004850
AA Change: T402K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: T402K

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 benign
Transcript: ENSMUST00000086763
AA Change: T402K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: T402K

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,855 (GRCm39)	E649G	probably damaging	Het
Agap3	A	G	5: 24,706,000 (GRCm39)		probably benign	Het
Amy1	T	C	3: 113,349,689 (GRCm39)	I494V	probably benign	Het
Arhgef40	G	A	14: 52,229,155 (GRCm39)		probably null	Het
Atp2c2	T	C	8: 120,472,329 (GRCm39)	V461A	probably benign	Het
Bub1	A	G	2: 127,652,583 (GRCm39)	S595P	probably damaging	Het
Cdcp3	T	A	7: 130,844,836 (GRCm39)	Y692*	probably null	Het
Cmya5	C	T	13: 93,234,414 (GRCm39)	V225I	probably benign	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Cux1	A	T	5: 136,340,345 (GRCm39)		probably benign	Het
Dsg3	T	A	18: 20,656,664 (GRCm39)	I178N	probably benign	Het
Dus2	T	A	8: 106,752,533 (GRCm39)		probably null	Het
Enpp1	G	A	10: 24,529,929 (GRCm39)	H570Y	probably damaging	Het
Ephb3	A	C	16: 21,036,044 (GRCm39)	T57P	probably benign	Het
Fat3	C	A	9: 15,910,390 (GRCm39)	V1871F	possibly damaging	Het
Fbll1	T	C	11: 35,688,874 (GRCm39)	T130A	probably benign	Het
Fbxl20	C	T	11: 98,001,800 (GRCm39)	S99N	probably damaging	Het
Folr2	T	C	7: 101,489,593 (GRCm39)	E182G	probably damaging	Het
Fras1	A	G	5: 96,703,080 (GRCm39)	D281G	probably benign	Het
Gm17175	G	T	14: 51,810,526 (GRCm39)	Q34K	possibly damaging	Het
Gm5592	T	A	7: 40,938,519 (GRCm39)	D600E	probably damaging	Het
Gtf2e1	T	C	16: 37,336,092 (GRCm39)	E294G	probably benign	Het
Gtf3c2	A	G	5: 31,327,517 (GRCm39)		probably benign	Het
Heg1	T	C	16: 33,530,977 (GRCm39)	L151P	probably damaging	Het
Hmcn2	T	G	2: 31,319,006 (GRCm39)	V3902G	probably damaging	Het
Ift140	A	G	17: 25,237,776 (GRCm39)	Y4C	probably damaging	Het
Ighv1-19	A	C	12: 114,672,569 (GRCm39)	V17G	possibly damaging	Het
Iqca1	T	A	1: 89,973,379 (GRCm39)	I770F	probably benign	Het
Jak3	T	A	8: 72,131,656 (GRCm39)	C115S	probably benign	Het
Kif18b	A	T	11: 102,805,501 (GRCm39)	M252K	probably damaging	Het
Klhdc7a	A	T	4: 139,694,236 (GRCm39)	V237D	probably benign	Het
Klhl11	C	T	11: 100,354,031 (GRCm39)	V597I	possibly damaging	Het
Krt72	T	A	15: 101,689,396 (GRCm39)	Y312F	probably damaging	Het
Lonp2	T	A	8: 87,360,600 (GRCm39)	I191N	probably damaging	Het
Npc2	A	T	12: 84,819,619 (GRCm39)	I8N	possibly damaging	Het
Nr4a1	T	C	15: 101,170,669 (GRCm39)	L413P	probably damaging	Het
Nup133	T	C	8: 124,638,645 (GRCm39)	N895S	probably damaging	Het
Or7e175	T	C	9: 20,048,531 (GRCm39)	F40L	probably benign	Het
Ppef1	A	G	X: 159,468,290 (GRCm39)	I94T	probably benign	Het
Prrt4	G	A	6: 29,176,455 (GRCm39)	T290I	probably benign	Het
Ptpru	A	T	4: 131,499,927 (GRCm39)	V1239E	probably damaging	Het
Rab8b	T	G	9: 66,760,274 (GRCm39)	M117L	probably benign	Het
S1pr5	T	A	9: 21,155,512 (GRCm39)	I305F	possibly damaging	Het
Sdr39u1	A	G	14: 56,135,463 (GRCm39)	V160A	probably damaging	Het
Slc6a21	C	T	7: 44,937,668 (GRCm39)	T653M	probably benign	Het
Stk39	T	A	2: 68,042,302 (GRCm39)	E544D	probably benign	Het
Tgfbr3	T	C	5: 107,290,367 (GRCm39)	T313A	probably benign	Het
Tle6	A	T	10: 81,430,292 (GRCm39)	L287M	probably damaging	Het
Tmc2	A	G	2: 130,105,932 (GRCm39)	H821R	probably benign	Het
Tmem230	G	T	2: 132,087,897 (GRCm39)	D26E	probably benign	Het
Tnfaip3	A	G	10: 18,880,885 (GRCm39)	F394S	probably damaging	Het
Ttn	T	A	2: 76,641,721 (GRCm39)	L13458F	probably damaging	Het
Vwa5a	A	T	9: 38,634,675 (GRCm39)	N161I	probably benign	Het
Wdr87-ps	C	A	7: 29,236,888 (GRCm39)		noncoding transcript	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
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
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

2013-04-17