Mutagenetix > Incidental Mutation

Incidental Mutation 'R4543:Adgre1'

333641

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

041778-MU

Accession Numbers

Essential gene?

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

Stock #

R4543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57665691-57790527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57713874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 186 (H186Q)

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: H186Q

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: H186Q

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: H186Q

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: H186Q

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

0.3248

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

94% (44/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,789,749 (GRCm39)	S500T	probably damaging	Het
Abhd3	T	C	18: 10,706,672 (GRCm39)	D2G	possibly damaging	Het
Ablim1	C	T	19: 57,065,874 (GRCm39)	R366H	possibly damaging	Het
Ankmy1	G	T	1: 92,812,572 (GRCm39)	A579E	probably damaging	Het
Ap2b1	C	A	11: 83,215,476 (GRCm39)	T140K	probably damaging	Het
Arhgef28	T	A	13: 98,211,508 (GRCm39)	E158D	probably benign	Het
Atp8b4	A	G	2: 126,199,986 (GRCm39)	F885L	probably damaging	Het
Barx2	A	G	9: 31,758,092 (GRCm39)	L282S	unknown	Het
Catsper2	C	T	2: 121,237,890 (GRCm39)	W163*	probably null	Het
Cep295	T	C	9: 15,246,549 (GRCm39)	T588A	possibly damaging	Het
Chil3	T	G	3: 106,067,686 (GRCm39)	K160Q	probably benign	Het
Clca3a1	T	A	3: 144,452,749 (GRCm39)	Q578L	probably damaging	Het
Crp	A	C	1: 172,526,304 (GRCm39)	I130L	probably benign	Het
Dtwd2	C	A	18: 49,857,175 (GRCm39)		probably null	Het
Fads3	T	C	19: 10,019,175 (GRCm39)	F27S	possibly damaging	Het
Gm3604	T	C	13: 62,517,970 (GRCm39)	D109G	probably benign	Het
Gtf2ird1	A	G	5: 134,392,754 (GRCm39)		probably null	Het
H2-K2	C	T	17: 34,218,532 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,104,770 (GRCm39)		probably benign	Het
Il6st	G	A	13: 112,617,993 (GRCm39)	V136M	probably damaging	Het
Immt	T	C	6: 71,828,762 (GRCm39)	S106P	probably damaging	Het
Kat2b	T	C	17: 53,960,168 (GRCm39)	I492T	probably benign	Het
Kcnn2	T	C	18: 45,692,715 (GRCm39)	F97S	probably benign	Het
Kdm4c	A	G	4: 74,248,997 (GRCm39)	I84V	probably benign	Het
Kif7	G	A	7: 79,357,296 (GRCm39)	P637S	probably benign	Het
Lrrcc1	T	A	3: 14,604,851 (GRCm39)	I109K	probably damaging	Het
Med12l	T	A	3: 58,998,929 (GRCm39)	C619S	probably damaging	Het
Mgat4f	T	A	1: 134,317,531 (GRCm39)	M101K	probably benign	Het
Or8g51	A	G	9: 38,608,841 (GRCm39)	S274P	possibly damaging	Het
Polq	T	C	16: 36,881,147 (GRCm39)	C1104R	probably benign	Het
Rbfox2	A	T	15: 77,190,568 (GRCm39)	M59K	probably benign	Het
Rft1	T	C	14: 30,383,290 (GRCm39)	V110A	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Slc2a12	T	A	10: 22,540,685 (GRCm39)	V180D	probably damaging	Het
Sox21	CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC	CCAGCGGCGGCGGCGGCAGCGGC	14: 118,472,548 (GRCm39)		probably benign	Het
Stap2	C	T	17: 56,304,604 (GRCm39)		probably null	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tmem132c	A	G	5: 127,582,041 (GRCm39)	T419A	probably benign	Het
Tmprss11a	G	A	5: 86,559,668 (GRCm39)	Q375*	probably null	Het
Trav12-3	CTCTG	CTCTGTCTG	14: 53,859,693 (GRCm39)		probably null	Het
Vmn1r88	T	A	7: 12,911,907 (GRCm39)	S88T	possibly damaging	Het
Zfp622	T	A	15: 25,991,623 (GRCm39)	D143E	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
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
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'- CTCCAGATCCATCCATTTGCCTAAG -3'
(R):5'- TTTAAACTCATCCTAAGTCCAAGCC -3'

Sequencing Primer
(F):5'- ATAGCTGAGTAGTACTCCATTGTG -3'
(R):5'- ATCCTAAGTCCAAGCCCCTTATC -3'

Posted On

2015-08-18