Mutagenetix > Incidental Mutations

Incidental Mutation 'R0111:Adgre4'

20481

Institutional Source

Beutler Lab

Gene Symbol

Adgre4

Ensembl Gene

ENSMUSG00000032915

Gene Name

adhesion G protein-coupled receptor E4

Synonyms

Gpr127, EGF-TM7, FIRE, Emr4, D17Ertd479e

MMRRC Submission

038397-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0111 (G1)

Quality Score

174

Status

Validated (trace)

Chromosome

Chromosomal Location

55749984-55853662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55817073 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 491 (H491L)

Ref Sequence

ENSEMBL: ENSMUSP00000025004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025004]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025004
AA Change: H491L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025004
Gene: ENSMUSG00000032915
AA Change: H491L

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Blast:EGF_like	38	76	2e-10	BLAST
Pfam:EGF_CA	77	117	3.6e-9	PFAM
GPS	288	338	4.03e-12	SMART
Pfam:7tm_2	343	588	5.7e-57	PFAM
low complexity region	613	628	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	T	C	8: 95,035,110		probably benign	Het
Arhgap5	T	C	12: 52,559,960		probably benign	Het
Asic1	T	C	15: 99,696,983	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157	D101V	probably damaging	Het
Cdh2	A	T	18: 16,774,509	N57K	probably benign	Het
Clec4d	C	A	6: 123,268,047	Y95*	probably null	Het
Cracr2a	A	G	6: 127,604,061	T67A	probably benign	Het
Dennd5a	A	T	7: 109,934,754	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,468,684	D3076G	probably benign	Het
Espnl	T	C	1: 91,344,742	M608T	probably benign	Het
Fam149a	C	T	8: 45,341,146		probably benign	Het
Fam35a	T	C	14: 34,267,729	K407E	probably damaging	Het
Fam46c	T	C	3: 100,472,786	D218G	probably damaging	Het
Flnc	T	C	6: 29,454,340	V1884A	probably damaging	Het
Helz2	A	C	2: 181,237,802	S674R	probably benign	Het
Hoxa2	T	G	6: 52,164,487		probably null	Het
Ifi47	T	A	11: 49,096,070	N221K	probably damaging	Het
Ipo9	A	G	1: 135,405,924	V340A	probably damaging	Het
Kalrn	A	T	16: 34,031,590	N373K	probably damaging	Het
Kif26a	T	C	12: 112,163,337		probably benign	Het
Kiss1r	A	G	10: 79,918,689	T6A	possibly damaging	Het
Lama1	A	T	17: 67,737,498	I131F	probably damaging	Het
Nefm	T	C	14: 68,124,542	D91G	probably benign	Het
Nos3	C	T	5: 24,372,704	T572I	probably damaging	Het
Notch2	T	C	3: 98,138,761	F1710L	probably benign	Het
Olfr70	T	C	4: 43,696,648	N175S	probably damaging	Het
Olfr804	T	A	10: 129,705,277	I133N	probably damaging	Het
Ostm1	T	C	10: 42,679,258	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,626,819	Y1445*	probably null	Het
Pde1b	T	C	15: 103,503,513	S14P	probably benign	Het
Pitpna	T	C	11: 75,625,484	V265A	probably benign	Het
Plec	G	T	15: 76,178,646	T2476K	probably damaging	Het
Pold2	A	G	11: 5,876,760	L58P	probably damaging	Het
Ppp3cc	C	T	14: 70,256,359		probably null	Het
Prss36	A	G	7: 127,934,545	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,580,763		probably benign	Het
Ptpn23	T	C	9: 110,385,623	D1570G	probably damaging	Het
Rab42	T	C	4: 132,302,365	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,305,672		probably benign	Het
Rp1	T	C	1: 4,344,760	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,630,584	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946	V772I	possibly damaging	Het
Scaper	A	G	9: 55,602,790	M654T	probably benign	Het
Sipa1l3	G	A	7: 29,348,318	P333S	probably damaging	Het
Slc30a10	C	A	1: 185,455,547	R162S	probably benign	Het
Spryd3	A	T	15: 102,128,537		probably null	Het
Tas2r110	T	C	6: 132,868,203	F66L	probably benign	Het
Thap2	T	C	10: 115,372,627	N196S	probably benign	Het
Themis2	C	A	4: 132,789,925	R88L	probably benign	Het
Trip12	A	T	1: 84,759,133		probably benign	Het
Ube3b	T	A	5: 114,390,376		probably benign	Het
Usp20	T	A	2: 31,002,612	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,287,156	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,468,101	D604G	probably damaging	Het
Wdr90	A	G	17: 25,848,444		probably benign	Het
Xirp2	A	T	2: 67,508,378	N321I	probably damaging	Het
Zfp595	A	G	13: 67,320,920	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,343,075	H271L	probably damaging	Het

Other mutations in Adgre4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Adgre4	APN	17	55791915	splice site	probably benign
IGL00228:Adgre4	APN	17	55802135	missense	probably damaging	1.00
IGL00572:Adgre4	APN	17	55820648	missense	probably benign	0.00
IGL01404:Adgre4	APN	17	55797639	missense	possibly damaging	0.63
IGL01420:Adgre4	APN	17	55799785	splice site	probably benign
IGL01501:Adgre4	APN	17	55802002	splice site	probably benign
IGL01510:Adgre4	APN	17	55818760	critical splice donor site	probably null
IGL01554:Adgre4	APN	17	55817090	missense	probably damaging	1.00
IGL01607:Adgre4	APN	17	55794748	splice site	probably benign
IGL01767:Adgre4	APN	17	55797740	missense	probably benign	0.19
IGL02253:Adgre4	APN	17	55760573	missense	probably benign	0.01
IGL02358:Adgre4	APN	17	55843209	missense	probably benign	0.15
IGL02466:Adgre4	APN	17	55814188	missense	probably benign	0.42
IGL03057:Adgre4	APN	17	55799602	splice site	probably benign
R0070:Adgre4	UTSW	17	55802154	missense	probably damaging	0.98
R0070:Adgre4	UTSW	17	55802154	missense	probably damaging	0.98
R0311:Adgre4	UTSW	17	55802010	missense	probably benign	0.36
R0366:Adgre4	UTSW	17	55792001	nonsense	probably null
R0415:Adgre4	UTSW	17	55852288	missense	probably benign	0.03
R0465:Adgre4	UTSW	17	55785137	splice site	probably benign
R0619:Adgre4	UTSW	17	55820679	missense	possibly damaging	0.52
R0685:Adgre4	UTSW	17	55792035	missense	probably benign	0.05
R0724:Adgre4	UTSW	17	55852281	missense	probably benign	0.00
R0835:Adgre4	UTSW	17	55799637	missense	probably damaging	1.00
R1330:Adgre4	UTSW	17	55778814	missense	probably benign	0.36
R1452:Adgre4	UTSW	17	55784996	missense	probably benign	0.35
R1960:Adgre4	UTSW	17	55791497	missense	probably benign
R1961:Adgre4	UTSW	17	55791497	missense	probably benign
R2046:Adgre4	UTSW	17	55778847	missense	possibly damaging	0.82
R2421:Adgre4	UTSW	17	55778872	missense	probably benign	0.10
R2570:Adgre4	UTSW	17	55778878	missense	possibly damaging	0.54
R3162:Adgre4	UTSW	17	55802218	splice site	probably benign
R4222:Adgre4	UTSW	17	55785121	missense	probably damaging	1.00
R4526:Adgre4	UTSW	17	55785016	nonsense	probably null
R4631:Adgre4	UTSW	17	55814305	missense	probably null	1.00
R4689:Adgre4	UTSW	17	55802096	missense	probably damaging	1.00
R4701:Adgre4	UTSW	17	55784971	missense	probably damaging	1.00
R4792:Adgre4	UTSW	17	55791491	missense	probably benign	0.00
R5205:Adgre4	UTSW	17	55794727	nonsense	probably null
R5210:Adgre4	UTSW	17	55785029	missense	probably damaging	0.97
R5358:Adgre4	UTSW	17	55818758	missense	probably benign	0.00
R5873:Adgre4	UTSW	17	55852282	missense	probably benign	0.13
R6025:Adgre4	UTSW	17	55792013	missense	probably benign	0.00
R6257:Adgre4	UTSW	17	55802133	missense	possibly damaging	0.87
R6426:Adgre4	UTSW	17	55802196	missense	probably benign	0.18
R6440:Adgre4	UTSW	17	55794744	critical splice donor site	probably null
R6484:Adgre4	UTSW	17	55802036	missense	possibly damaging	0.52
R6680:Adgre4	UTSW	17	55791959	missense	probably benign	0.09
R7086:Adgre4	UTSW	17	55820649	missense	probably benign	0.00
R7442:Adgre4	UTSW	17	55852340	missense	probably benign	0.04
R7467:Adgre4	UTSW	17	55791952	missense	probably benign	0.00
R7875:Adgre4	UTSW	17	55792016	missense	probably benign	0.00
R7958:Adgre4	UTSW	17	55792016	missense	probably benign	0.00
R8007:Adgre4	UTSW	17	55814233	missense	probably damaging	0.99
S24628:Adgre4	UTSW	17	55852288	missense	probably benign	0.03
X0010:Adgre4	UTSW	17	55814308	missense	probably damaging	1.00
Z1177:Adgre4	UTSW	17	55814152	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCACCCAGCGTGTCAGACAA -3'
(R):5'- TGCAGCATTGCATAGAGAGTTGGAG -3'

Sequencing Primer
(F):5'- GCGTGTCAGACAAGAAATTCTTC -3'
(R):5'- TGATGATATACTCAGGAAAAAAGGC -3'

Posted On

2013-04-11