Mutagenetix > Incidental Mutation

Incidental Mutation 'R4513:Adgre1'

377831

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

041759-MU

Accession Numbers

Essential gene?

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

Stock #

R4513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57665691-57790527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57717947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 320 (I320V)

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: I320V

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: I320V

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: I320V

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: I320V

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

0.1252

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

100% (56/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	C	12: 52,842,787 (GRCm39)	V45A	probably benign	Het
Ankrd28	A	T	14: 31,465,242 (GRCm39)	S312T	probably damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Cfap96	G	T	8: 46,421,175 (GRCm39)	T116K	probably damaging	Het
Cntn3	A	T	6: 102,145,943 (GRCm39)	I966N	probably benign	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Dmxl2	A	C	9: 54,327,168 (GRCm39)	S952R	probably null	Het
Dop1a	G	A	9: 86,402,612 (GRCm39)	E1271K	probably benign	Het
Fgfr3	A	G	5: 33,880,460 (GRCm39)		probably benign	Het
Gm10110	A	G	14: 90,135,151 (GRCm39)		noncoding transcript	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Guf1	T	C	5: 69,719,005 (GRCm39)	V230A	probably benign	Het
Hsd17b14	C	T	7: 45,212,339 (GRCm39)	L124F	probably benign	Het
Id3	G	T	4: 135,871,669 (GRCm39)		probably benign	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Lgr4	T	C	2: 109,842,361 (GRCm39)	M782T	possibly damaging	Het
Lsm12	T	C	11: 102,057,909 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,580,741 (GRCm39)	D117V	probably damaging	Het
Map3k11	A	G	19: 5,752,238 (GRCm39)	T807A	probably damaging	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mapkbp1	T	A	2: 119,854,174 (GRCm39)	I1257N	possibly damaging	Het
Mcm3	A	G	1: 20,880,456 (GRCm39)	Y459H	probably damaging	Het
Mkln1	T	C	6: 31,410,093 (GRCm39)		probably benign	Het
Msh5	A	T	17: 35,249,664 (GRCm39)	I627N	possibly damaging	Het
Nfkbiz	T	C	16: 55,637,204 (GRCm39)	H488R	probably benign	Het
Nrg1	G	T	8: 32,967,105 (GRCm39)		probably benign	Het
Or1j19	A	G	2: 36,676,782 (GRCm39)	M82V	probably benign	Het
Or51q1	T	C	7: 103,628,648 (GRCm39)	V89A	probably benign	Het
Or51t4	T	C	7: 102,597,945 (GRCm39)	L81P	probably damaging	Het
Or5b120	A	T	19: 13,479,986 (GRCm39)	Y93F	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhg4	T	A	8: 106,107,034 (GRCm39)	C910S	probably damaging	Het
Ppp1r18	A	G	17: 36,179,196 (GRCm39)	E357G	probably damaging	Het
Pramel23	T	C	4: 143,424,718 (GRCm39)	M242V	probably benign	Het
Rbm11	T	C	16: 75,393,475 (GRCm39)	F57S	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Skint5	A	G	4: 113,599,382 (GRCm39)	V719A	unknown	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc29a1	A	C	17: 45,899,992 (GRCm39)	Y232*	probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Spanxn4	A	T	12: 62,734,886 (GRCm39)		noncoding transcript	Het
Spata31d1d	T	C	13: 59,876,368 (GRCm39)	Q389R	probably benign	Het
Srgap1	A	G	10: 121,706,231 (GRCm39)		probably null	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Tle2	A	G	10: 81,423,394 (GRCm39)	D491G	probably damaging	Het
Tmem33	T	C	5: 67,443,468 (GRCm39)	V215A	probably benign	Het
Trav6-3	A	G	14: 53,667,548 (GRCm39)	T7A	probably benign	Het
Ube2q2	C	A	9: 55,057,084 (GRCm39)	P56T	probably benign	Het
Unc79	T	C	12: 102,988,019 (GRCm39)	V208A	probably damaging	Het
Xkr7	T	C	2: 152,896,553 (GRCm39)	I469T	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGATATCGATGAGTGTGATGAC -3'
(R):5'- TACAGCTCCCCTTGCCAATG -3'

Sequencing Primer
(F):5'- AACACTATTGGGAGCTACTTCTGC -3'
(R):5'- GCCAATGCACTAAGACATTACTTTTG -3'

Posted On

2016-04-11