Mutagenetix > Incidental Mutation

Incidental Mutation 'R6945:Adgre1'

540863

Institutional Source

Beutler Lab

Gene Symbol

Adgre1

Ensembl Gene

ENSMUSG00000004730

Gene Name

adhesion G protein-coupled receptor E1

Synonyms

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

MMRRC Submission

045059-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57665691-57790527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57717844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 314 (E314G)

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: E314G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: E314G

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: E314G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: E314G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	A	16: 20,218,759 (GRCm39)	T208S	probably benign	Het
Acaa2	A	G	18: 74,926,380 (GRCm39)	E112G	probably benign	Het
Adgrb1	A	G	15: 74,421,873 (GRCm39)	N881S	probably damaging	Het
Akp3	A	G	1: 87,053,353 (GRCm39)	Y102C	probably damaging	Het
Birc6	A	G	17: 74,886,526 (GRCm39)	N618S	probably benign	Het
Bpifc	A	G	10: 85,815,078 (GRCm39)	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,691,275 (GRCm39)		probably benign	Het
Cacnb4	T	C	2: 52,364,966 (GRCm39)	N99S	probably damaging	Het
Cd38	A	G	5: 44,065,348 (GRCm39)	Y283C	probably damaging	Het
Celf4	T	A	18: 25,629,293 (GRCm39)	Q411L	probably damaging	Het
Cemip	A	T	7: 83,647,755 (GRCm39)	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,452,720 (GRCm39)	E225G	unknown	Het
Dnah11	T	C	12: 118,024,045 (GRCm39)	E1902G	probably damaging	Het
Dst	A	G	1: 34,229,571 (GRCm39)	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,823,184 (GRCm39)	I6306L	probably benign	Het
Furin	A	G	7: 80,040,838 (GRCm39)	S667P	possibly damaging	Het
Glmp	T	A	3: 88,233,139 (GRCm39)	S92R	probably benign	Het
Gm11563	C	G	11: 99,549,298 (GRCm39)	C152S	unknown	Het
Gm3486	A	G	14: 41,206,518 (GRCm39)	V185A	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Hyal1	C	A	9: 107,456,369 (GRCm39)	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785 (GRCm39)	C806R	probably benign	Het
L1td1	T	C	4: 98,621,933 (GRCm39)	V165A	probably benign	Het
Lama1	A	G	17: 68,120,861 (GRCm39)	T2666A		Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,146,239 (GRCm39)	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,464,152 (GRCm39)	F551S	possibly damaging	Het
Myo19	A	G	11: 84,788,386 (GRCm39)	T333A	probably benign	Het
Nrp2	A	T	1: 62,799,947 (GRCm39)	N387I	probably damaging	Het
Oas2	T	C	5: 120,874,204 (GRCm39)	D543G	probably benign	Het
Or2g25	A	G	17: 37,970,405 (GRCm39)	I273T	possibly damaging	Het
Or5al6	A	G	2: 85,976,428 (GRCm39)	S217P	probably damaging	Het
Pak5	A	G	2: 135,942,859 (GRCm39)	V427A	probably benign	Het
Pfas	G	A	11: 68,891,356 (GRCm39)	A247V	probably benign	Het
Pramel52-ps	C	T	5: 94,531,490 (GRCm39)	H125Y	possibly damaging	Het
Psat1	T	A	19: 15,894,545 (GRCm39)	T115S	probably benign	Het
Psme4	T	A	11: 30,787,437 (GRCm39)	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,509,752 (GRCm39)	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,822,976 (GRCm39)	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,331,256 (GRCm39)	E394D	probably damaging	Het
Seh1l	T	C	18: 67,922,460 (GRCm39)	V271A	probably benign	Het
Sf3b1	A	T	1: 55,036,315 (GRCm39)	N919K	probably benign	Het
Sftpd	A	G	14: 40,896,449 (GRCm39)	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,831,430 (GRCm39)	E2G	probably damaging	Het
Spta1	A	G	1: 174,036,891 (GRCm39)	D1134G	possibly damaging	Het
Syna	A	G	5: 134,587,815 (GRCm39)	V378A	probably damaging	Het
Tchp	A	G	5: 114,847,411 (GRCm39)	K77E	possibly damaging	Het
Tescl	T	C	7: 24,032,956 (GRCm39)	N123S	probably benign	Het
Trio	C	T	15: 27,824,176 (GRCm39)	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,727,665 (GRCm39)	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 11,886,832 (GRCm39)	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp1007	A	C	5: 109,824,711 (GRCm39)	N246K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAACAACAGAAGTGAAACTAGGAATC -3'
(R):5'- AGCCTGGTACATTGGTGCA -3'

Sequencing Primer
(F):5'- GTGAAACTAGGAATCTGGCTTCCC -3'
(R):5'- CATTGGTGCAGACAGAATTCAGTCC -3'

Posted On

2018-11-28