Mutagenetix > Incidental Mutation

Incidental Mutation 'R8972:Adgre4'

683210

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

068806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56056984-56160662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56109189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 399 (G399C)

Ref Sequence

ENSEMBL: ENSMUSP00000025004 (fasta)

Gene Model

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

AlphaFold

Q91ZE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025004
AA Change: G399C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025004
Gene: ENSMUSG00000032915
AA Change: G399C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,278,138 (GRCm39)	S3106F	probably damaging	Het
Acss1	G	T	2: 150,484,809 (GRCm39)	R145S	probably damaging	Het
Acss3	T	C	10: 106,920,783 (GRCm39)	Y109C	probably damaging	Het
Alpk1	A	G	3: 127,473,232 (GRCm39)	S924P	probably damaging	Het
Anapc4	T	A	5: 53,007,884 (GRCm39)	D382E	possibly damaging	Het
Arfgef2	C	T	2: 166,709,253 (GRCm39)	A1110V	possibly damaging	Het
Arhgap20	T	C	9: 51,760,311 (GRCm39)	F721L	probably benign	Het
Arhgef39	T	C	4: 43,497,185 (GRCm39)	S269G	probably benign	Het
Asap2	C	T	12: 21,279,249 (GRCm39)	T377M	probably damaging	Het
Baiap3	G	T	17: 25,466,010 (GRCm39)	A558E	probably benign	Het
Birc6	A	C	17: 75,009,313 (GRCm39)	T4862P	probably benign	Het
Cc2d2a	A	G	5: 43,867,884 (GRCm39)	T843A	probably benign	Het
Ccdc187	A	T	2: 26,171,079 (GRCm39)	D466E	probably benign	Het
Ccdc88a	T	G	11: 29,435,888 (GRCm39)	N1270K	probably benign	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cntn1	T	G	15: 92,150,278 (GRCm39)	Y371D	probably benign	Het
Cpsf1	T	C	15: 76,481,528 (GRCm39)	D1141G	probably damaging	Het
Crebbp	C	T	16: 3,925,935 (GRCm39)	V1193I	probably benign	Het
Csf2ra	A	T	19: 61,213,597 (GRCm39)	S371T	probably null	Het
Csf2rb2	T	C	15: 78,172,115 (GRCm39)	N432D	probably benign	Het
Cul9	A	T	17: 46,854,177 (GRCm39)	L175Q	probably damaging	Het
Dlc1	T	A	8: 37,405,394 (GRCm39)	R132*	probably null	Het
Dock5	C	A	14: 68,013,749 (GRCm39)	L1324F	probably damaging	Het
Dop1a	T	C	9: 86,403,300 (GRCm39)	V36A	possibly damaging	Het
Fap	A	G	2: 62,378,927 (GRCm39)	V158A	probably benign	Het
G2e3	T	A	12: 51,410,277 (GRCm39)	S319T	possibly damaging	Het
Gatd3a	T	C	10: 78,003,323 (GRCm39)	I110V	possibly damaging	Het
Gphn	T	C	12: 78,656,013 (GRCm39)		probably null	Het
Gucy2g	A	G	19: 55,226,406 (GRCm39)	I170T	probably benign	Het
Hmgxb4	T	A	8: 75,748,466 (GRCm39)	W438R	probably damaging	Het
Igkv14-126	G	T	6: 67,873,329 (GRCm39)	G19V	probably damaging	Het
Kansl1l	C	T	1: 66,812,101 (GRCm39)	C506Y	probably damaging	Het
Kif2a	T	C	13: 107,115,543 (GRCm39)	T321A	probably damaging	Het
Krtap6-5	C	T	16: 88,844,607 (GRCm39)	R42H	unknown	Het
Map4	T	A	9: 109,864,185 (GRCm39)	M470K	probably benign	Het
Mill1	T	C	7: 17,996,982 (GRCm39)	V191A	probably benign	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mkln1	A	T	6: 31,473,681 (GRCm39)	H669L	probably damaging	Het
Mrgprb3	A	T	7: 48,293,422 (GRCm39)	V43E	possibly damaging	Het
Mucl2	T	A	15: 103,927,860 (GRCm39)		probably null	Het
Mybbp1a	T	A	11: 72,337,076 (GRCm39)	I604N	probably benign	Het
Myo18b	T	C	5: 112,841,164 (GRCm39)	T2210A	probably benign	Het
Nlrp4f	T	C	13: 65,330,749 (GRCm39)	I881M	probably benign	Het
Obscn	C	A	11: 58,943,442 (GRCm39)	A4236S	probably benign	Het
Or13a23-ps1	A	T	7: 140,119,038 (GRCm39)	M203L	unknown	Het
Or4a67	A	C	2: 88,598,630 (GRCm39)	F10V	possibly damaging	Het
Or8d1	A	G	9: 38,767,254 (GRCm39)	K299E	probably damaging	Het
Or8d2b	G	A	9: 38,789,150 (GRCm39)	R226H	probably benign	Het
Phc3	T	A	3: 31,015,926 (GRCm39)	Q83L	possibly damaging	Het
Pira2	T	C	7: 3,845,070 (GRCm39)	Y396C	probably damaging	Het
Prss3	T	A	6: 41,353,872 (GRCm39)	I24F	probably damaging	Het
Psg21	T	C	7: 18,381,293 (GRCm39)	N417D	probably benign	Het
Ros1	G	T	10: 51,999,333 (GRCm39)	R1206S	probably benign	Het
Smg9	A	T	7: 24,120,055 (GRCm39)	Q386L	probably benign	Het
Sncb	T	A	13: 54,907,772 (GRCm39)		probably null	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Sorl1	T	A	9: 41,957,848 (GRCm39)	I599F	probably damaging	Het
Sox6	C	A	7: 115,076,218 (GRCm39)	E807*	probably null	Het
Ssu2	G	A	6: 112,360,898 (GRCm39)	A53V	probably benign	Het
Tas2r123	T	C	6: 132,824,333 (GRCm39)	C77R	probably benign	Het
Tcta	T	C	9: 108,181,333 (GRCm39)	R117G	unknown	Het
Tiam1	G	A	16: 89,609,894 (GRCm39)	A1038V	probably damaging	Het
Tram2	A	T	1: 21,074,273 (GRCm39)		probably benign	Het
Tsku	C	A	7: 98,001,704 (GRCm39)	R209L	probably damaging	Het
Twnk	T	C	19: 45,000,149 (GRCm39)	F622L	probably damaging	Het
Ube2t	C	T	1: 134,899,670 (GRCm39)	T106I	probably damaging	Het
Usf1	C	T	1: 171,245,352 (GRCm39)	R255W	probably damaging	Het
Usp28	T	A	9: 48,949,124 (GRCm39)	L906Q	probably null	Het
Vmn2r31	T	A	7: 7,399,654 (GRCm39)	Y101F	probably benign	Het
Vmn2r42	A	G	7: 8,187,331 (GRCm39)	S814P	probably damaging	Het
Wnt2b	T	C	3: 104,858,475 (GRCm39)	R265G	possibly damaging	Het
Zfp62	T	G	11: 49,106,892 (GRCm39)	S328A	possibly damaging	Het
Zfp974	T	C	7: 27,610,589 (GRCm39)	I379V	probably benign	Het
Zmynd15	T	C	11: 70,355,065 (GRCm39)	V484A	possibly damaging	Het
Zzef1	T	C	11: 72,791,499 (GRCm39)	L2201P	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCCTTTCTGGTCTGTAGGAG -3'
(R):5'- ACTGTAGAGTGACATTACTGCTAG -3'

Sequencing Primer
(F):5'- CCTTTCTGGTCTGTAGGAGGATGG -3'
(R):5'- TACTCCTAATTCCAAAATGACCAAC -3'

Posted On

2021-10-11