Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Adgre4'

18001

Institutional Source

Beutler Lab

Gene Symbol

Adgre4

Ensembl Gene

ENSMUSG00000032915

Gene Name

adhesion G protein-coupled receptor E4

Synonyms

EGF-TM7, Gpr127, FIRE, Emr4, D17Ertd479e

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56056984-56160662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56109154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 387 (I387T)

Ref Sequence

ENSEMBL: ENSMUSP00000025004 (fasta)

Gene Model

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

AlphaFold

Q91ZE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025004
AA Change: I387T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025004
Gene: ENSMUSG00000032915
AA Change: I387T

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

0.6467

Coding Region Coverage

1x: 88.0%
3x: 83.9%
10x: 69.3%
20x: 41.9%

Validation Efficiency

88% (67/76)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,551 (GRCm39)		probably benign	Het
Capn2	C	A	1: 182,301,434 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Ciapin1	T	C	8: 95,551,847 (GRCm39)	N246S	possibly damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm2027	T	A	12: 44,269,145 (GRCm39)		probably benign	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Hykk	T	A	9: 54,829,632 (GRCm39)		probably benign	Het
Kansl1l	T	C	1: 66,840,262 (GRCm39)	D346G	probably damaging	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Nav2	A	G	7: 49,220,462 (GRCm39)	E1669G	probably damaging	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Or5p51	T	G	7: 107,444,124 (GRCm39)	D272A	probably damaging	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Pi4k2b	A	C	5: 52,914,260 (GRCm39)	D309A	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Serpinh1	A	T	7: 98,998,521 (GRCm39)	S36R	probably damaging	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Taok1	T	A	11: 77,444,543 (GRCm39)	M511L	probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem147	T	C	7: 30,427,526 (GRCm39)	Y97C	probably damaging	Het
Tmem150a	A	G	6: 72,335,742 (GRCm39)		probably null	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zscan20	C	T	4: 128,479,675 (GRCm39)	V939I	possibly damaging	Het

Other mutations in Adgre4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Adgre4	APN	17	56,098,915 (GRCm39)	splice site	probably benign
IGL00228:Adgre4	APN	17	56,109,135 (GRCm39)	missense	probably damaging	1.00
IGL00572:Adgre4	APN	17	56,127,648 (GRCm39)	missense	probably benign	0.00
IGL01404:Adgre4	APN	17	56,104,639 (GRCm39)	missense	possibly damaging	0.63
IGL01420:Adgre4	APN	17	56,106,785 (GRCm39)	splice site	probably benign
IGL01501:Adgre4	APN	17	56,109,002 (GRCm39)	splice site	probably benign
IGL01510:Adgre4	APN	17	56,125,760 (GRCm39)	critical splice donor site	probably null
IGL01554:Adgre4	APN	17	56,124,090 (GRCm39)	missense	probably damaging	1.00
IGL01607:Adgre4	APN	17	56,101,748 (GRCm39)	splice site	probably benign
IGL01767:Adgre4	APN	17	56,104,740 (GRCm39)	missense	probably benign	0.19
IGL02253:Adgre4	APN	17	56,067,573 (GRCm39)	missense	probably benign	0.01
IGL02358:Adgre4	APN	17	56,150,209 (GRCm39)	missense	probably benign	0.15
IGL02466:Adgre4	APN	17	56,121,188 (GRCm39)	missense	probably benign	0.42
IGL03057:Adgre4	APN	17	56,106,602 (GRCm39)	splice site	probably benign
R0070:Adgre4	UTSW	17	56,109,154 (GRCm39)	missense	probably damaging	0.98
R0111:Adgre4	UTSW	17	56,124,073 (GRCm39)	missense	possibly damaging	0.92
R0311:Adgre4	UTSW	17	56,109,010 (GRCm39)	missense	probably benign	0.36
R0366:Adgre4	UTSW	17	56,099,001 (GRCm39)	nonsense	probably null
R0415:Adgre4	UTSW	17	56,159,288 (GRCm39)	missense	probably benign	0.03
R0465:Adgre4	UTSW	17	56,092,137 (GRCm39)	splice site	probably benign
R0619:Adgre4	UTSW	17	56,127,679 (GRCm39)	missense	possibly damaging	0.52
R0685:Adgre4	UTSW	17	56,099,035 (GRCm39)	missense	probably benign	0.05
R0724:Adgre4	UTSW	17	56,159,281 (GRCm39)	missense	probably benign	0.00
R0835:Adgre4	UTSW	17	56,106,637 (GRCm39)	missense	probably damaging	1.00
R1330:Adgre4	UTSW	17	56,085,814 (GRCm39)	missense	probably benign	0.36
R1452:Adgre4	UTSW	17	56,091,996 (GRCm39)	missense	probably benign	0.35
R1960:Adgre4	UTSW	17	56,098,497 (GRCm39)	missense	probably benign
R1961:Adgre4	UTSW	17	56,098,497 (GRCm39)	missense	probably benign
R2046:Adgre4	UTSW	17	56,085,847 (GRCm39)	missense	possibly damaging	0.82
R2421:Adgre4	UTSW	17	56,085,872 (GRCm39)	missense	probably benign	0.10
R2570:Adgre4	UTSW	17	56,085,878 (GRCm39)	missense	possibly damaging	0.54
R3162:Adgre4	UTSW	17	56,109,218 (GRCm39)	splice site	probably benign
R4222:Adgre4	UTSW	17	56,092,121 (GRCm39)	missense	probably damaging	1.00
R4526:Adgre4	UTSW	17	56,092,016 (GRCm39)	nonsense	probably null
R4631:Adgre4	UTSW	17	56,121,305 (GRCm39)	missense	probably null	1.00
R4689:Adgre4	UTSW	17	56,109,096 (GRCm39)	missense	probably damaging	1.00
R4701:Adgre4	UTSW	17	56,091,971 (GRCm39)	missense	probably damaging	1.00
R4792:Adgre4	UTSW	17	56,098,491 (GRCm39)	missense	probably benign	0.00
R5205:Adgre4	UTSW	17	56,101,727 (GRCm39)	nonsense	probably null
R5210:Adgre4	UTSW	17	56,092,029 (GRCm39)	missense	probably damaging	0.97
R5358:Adgre4	UTSW	17	56,125,758 (GRCm39)	missense	probably benign	0.00
R5873:Adgre4	UTSW	17	56,159,282 (GRCm39)	missense	probably benign	0.13
R6025:Adgre4	UTSW	17	56,099,013 (GRCm39)	missense	probably benign	0.00
R6257:Adgre4	UTSW	17	56,109,133 (GRCm39)	missense	possibly damaging	0.87
R6426:Adgre4	UTSW	17	56,109,196 (GRCm39)	missense	probably benign	0.18
R6440:Adgre4	UTSW	17	56,101,744 (GRCm39)	critical splice donor site	probably null
R6484:Adgre4	UTSW	17	56,109,036 (GRCm39)	missense	possibly damaging	0.52
R6680:Adgre4	UTSW	17	56,098,959 (GRCm39)	missense	probably benign	0.09
R7086:Adgre4	UTSW	17	56,127,649 (GRCm39)	missense	probably benign	0.00
R7442:Adgre4	UTSW	17	56,159,340 (GRCm39)	missense	probably benign	0.04
R7467:Adgre4	UTSW	17	56,098,952 (GRCm39)	missense	probably benign	0.00
R7875:Adgre4	UTSW	17	56,099,016 (GRCm39)	missense	probably benign	0.00
R8007:Adgre4	UTSW	17	56,121,233 (GRCm39)	missense	probably damaging	0.99
R8096:Adgre4	UTSW	17	56,127,700 (GRCm39)	missense	probably damaging	1.00
R8172:Adgre4	UTSW	17	56,104,769 (GRCm39)	missense	probably benign	0.00
R8512:Adgre4	UTSW	17	56,125,760 (GRCm39)	critical splice donor site	probably null
R8972:Adgre4	UTSW	17	56,109,189 (GRCm39)	missense	probably damaging	1.00
R9018:Adgre4	UTSW	17	56,098,993 (GRCm39)	missense	probably benign	0.00
R9049:Adgre4	UTSW	17	56,092,094 (GRCm39)	missense	probably benign	0.05
S24628:Adgre4	UTSW	17	56,159,288 (GRCm39)	missense	probably benign	0.03
X0010:Adgre4	UTSW	17	56,121,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Adgre4	UTSW	17	56,121,152 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-03-25