Mutagenetix > Incidental Mutation

Incidental Mutation 'R6232:Adgra2'

504679

Institutional Source

Beutler Lab

Gene Symbol

Adgra2

Ensembl Gene

ENSMUSG00000031486

Gene Name

adhesion G protein-coupled receptor A2

Synonyms

Tem5, 8430414O08Rik, Gpr124, 9530074E10Rik

MMRRC Submission

044360-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6232 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27575611-27613464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27609193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 805 (M805L)

Ref Sequence

ENSEMBL: ENSMUSP00000033876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033876] [ENSMUST00000033877] [ENSMUST00000178514] [ENSMUST00000179351]

AlphaFold

Q91ZV8

Predicted Effect

probably benign
Transcript: ENSMUST00000033876
AA Change: M805L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: M805L

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
LRR	82	106	1.06e2	SMART
LRR_TYP	107	130	2.71e-2	SMART
LRR_TYP	131	154	1.28e-3	SMART
LRR	155	178	7.38e1	SMART
LRRCT	190	240	4.63e-6	SMART
IG	253	346	3.49e-3	SMART
low complexity region	629	639	N/A	INTRINSIC
low complexity region	663	674	N/A	INTRINSIC
Pfam:GPS	709	750	1.1e-7	PFAM
Pfam:7tm_2	770	990	5.3e-13	PFAM
transmembrane domain	1016	1038	N/A	INTRINSIC
transmembrane domain	1045	1064	N/A	INTRINSIC
low complexity region	1075	1095	N/A	INTRINSIC
low complexity region	1110	1129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000033877

SMART Domains

Protein: ENSMUSP00000033877
Gene: ENSMUSG00000031487

Domain	Start	End	E-Value	Type
Pfam:TF_Zn_Ribbon	6	42	5.7e-11	PFAM
SCOP:d1aisb1	73	167	1e-12	SMART
Blast:CYCLIN	74	158	2e-51	BLAST
Blast:CYCLIN	171	275	6e-61	BLAST
low complexity region	322	336	N/A	INTRINSIC
low complexity region	355	367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178514
AA Change: M590L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: M590L

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
LRR	82	106	4.4e-1	SMART
LRR_TYP	107	130	1.1e-4	SMART
LRR_TYP	131	154	5.3e-6	SMART
LRR	155	178	3.1e-1	SMART
LRRCT	190	240	2.2e-8	SMART
IG	253	346	1.4e-5	SMART
HormR	349	426	1.8e-4	SMART
Pfam:7tm_2	554	775	3.2e-11	PFAM
transmembrane domain	801	823	N/A	INTRINSIC
transmembrane domain	830	849	N/A	INTRINSIC
low complexity region	860	880	N/A	INTRINSIC
low complexity region	895	914	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179207

Predicted Effect

probably benign
Transcript: ENSMUST00000179351

SMART Domains

Protein: ENSMUSP00000137457
Gene: ENSMUSG00000031486

Domain	Start	End	E-Value	Type
Pfam:GPS	5	49	4.5e-11	PFAM
transmembrane domain	67	89	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

94% (64/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for null mutations display fetal or perinatal lethality with CNS hemorrhage and angiogenic arrest in the CNS. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,933 (GRCm39)	V198A	possibly damaging	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Arhgap39	T	C	15: 76,620,712 (GRCm39)	S630G	probably damaging	Het
Bcl3	T	A	7: 19,546,409 (GRCm39)	N142I	probably damaging	Het
Cfap210	C	T	2: 69,602,398 (GRCm39)	E338K	possibly damaging	Het
Chuk	A	T	19: 44,085,431 (GRCm39)	D238E	probably benign	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Cyp2j8	A	T	4: 96,395,427 (GRCm39)	L66Q	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dst	T	A	1: 34,227,253 (GRCm39)	D1290E	probably damaging	Het
Dysf	T	C	6: 84,075,235 (GRCm39)	I583T	probably benign	Het
Eif1ad13	A	T	12: 87,762,351 (GRCm39)	R24*	probably null	Het
Fbxl2	T	A	9: 113,815,516 (GRCm39)	D249V	probably damaging	Het
Fbxo30	A	T	10: 11,165,602 (GRCm39)	Y108F	possibly damaging	Het
Fibin	G	T	2: 110,193,041 (GRCm39)	H34N	probably damaging	Het
Gabrr1	A	G	4: 33,161,632 (GRCm39)	I319V	probably benign	Het
Gfm1	G	T	3: 67,375,215 (GRCm39)	L559F	possibly damaging	Het
Gm5134	T	A	10: 75,821,859 (GRCm39)	L231Q	possibly damaging	Het
Grm5	A	G	7: 87,251,638 (GRCm39)		probably benign	Het
Hbs1l	T	A	10: 21,183,657 (GRCm39)		probably null	Het
Hsf5	C	G	11: 87,508,120 (GRCm39)	T8S	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Inpp4b	A	G	8: 82,678,813 (GRCm39)	Q281R	probably damaging	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Ldlrap1	C	T	4: 134,486,345 (GRCm39)	R38Q	possibly damaging	Het
Lepr	A	G	4: 101,671,588 (GRCm39)		probably null	Het
Map3k12	A	G	15: 102,412,081 (GRCm39)	S328P	probably damaging	Het
Mrpl2	T	C	17: 46,958,356 (GRCm39)	V46A	probably benign	Het
Muc16	A	T	9: 18,568,294 (GRCm39)	N1408K	unknown	Het
Myh7	T	A	14: 55,226,753 (GRCm39)	Q366L	probably benign	Het
Nbeal2	A	G	9: 110,467,802 (GRCm39)	V462A	probably damaging	Het
Nradd	G	T	9: 110,450,655 (GRCm39)	T174N	probably damaging	Het
Nup155	T	C	15: 8,138,963 (GRCm39)	S12P	probably benign	Het
Obscn	C	A	11: 58,943,337 (GRCm39)	E4832*	probably null	Het
Opn3	G	A	1: 175,490,669 (GRCm39)	R331W	probably damaging	Het
Or2ag15	A	T	7: 106,340,761 (GRCm39)	C127S	probably damaging	Het
Or2w3	T	A	11: 58,556,757 (GRCm39)	V124E	possibly damaging	Het
Or4a66	G	T	2: 88,531,161 (GRCm39)	H171N	probably benign	Het
Or52ae9	T	A	7: 103,389,661 (GRCm39)	H262L	probably damaging	Het
Or5b120	G	A	19: 13,480,427 (GRCm39)	C240Y	probably damaging	Het
Or6b2	T	C	1: 92,408,305 (GRCm39)	I13V	probably benign	Het
Phip	A	G	9: 82,785,234 (GRCm39)	V827A	probably benign	Het
Phldb1	G	A	9: 44,607,414 (GRCm39)	R1264W	probably damaging	Het
Pibf1	T	G	14: 99,424,014 (GRCm39)	I529S	probably benign	Het
Pkp1	T	A	1: 135,814,599 (GRCm39)	I241F	probably benign	Het
Pla2g4f	G	T	2: 120,132,702 (GRCm39)	D711E	possibly damaging	Het
Pold1	A	G	7: 44,190,266 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,823,691 (GRCm39)	S287G	probably benign	Het
Prg4	T	C	1: 150,331,567 (GRCm39)		probably benign	Het
Prl8a1	T	C	13: 27,759,557 (GRCm39)	E160G	possibly damaging	Het
Rfc4	C	T	16: 22,932,840 (GRCm39)		probably benign	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph14	G	A	10: 74,797,520 (GRCm39)	R156W	probably benign	Het
Sec61a1	T	C	6: 88,482,150 (GRCm39)	Y457C	probably benign	Het
Sec63	T	A	10: 42,704,861 (GRCm39)		probably null	Het
Spen	T	C	4: 141,244,333 (GRCm39)	E234G	unknown	Het
Sphkap	T	A	1: 83,258,200 (GRCm39)	E181V	probably damaging	Het
Stau2	C	T	1: 16,445,035 (GRCm39)	A298T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 56,990,796 (GRCm39)	I661V	probably benign	Het
Thoc6	A	C	17: 23,889,295 (GRCm39)		probably null	Het
Trpv1	T	A	11: 73,141,636 (GRCm39)	M553K	possibly damaging	Het
Ttn	T	C	2: 76,641,579 (GRCm39)	I11760V	probably benign	Het
Vmn1r61	G	A	7: 5,613,850 (GRCm39)	H155Y	probably damaging	Het
Vmn2r41	A	G	7: 8,153,214 (GRCm39)		probably null	Het
Vmn2r74	A	G	7: 85,607,498 (GRCm39)	I75T	possibly damaging	Het
Wwp2	C	A	8: 108,232,977 (GRCm39)	T205K	probably benign	Het
Zfp1003	A	T	2: 177,546,195 (GRCm39)	T40S	probably benign	Het
Zfp747	C	T	7: 126,973,306 (GRCm39)	G288D	probably damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het
Zfp953	G	A	13: 67,491,161 (GRCm39)	L264F	possibly damaging	Het

Other mutations in Adgra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Adgra2	APN	8	27,576,011 (GRCm39)	missense	possibly damaging	0.81
IGL01599:Adgra2	APN	8	27,608,761 (GRCm39)	missense	possibly damaging	0.67
IGL01627:Adgra2	APN	8	27,608,761 (GRCm39)	missense	possibly damaging	0.67
IGL01629:Adgra2	APN	8	27,608,761 (GRCm39)	missense	possibly damaging	0.67
IGL01632:Adgra2	APN	8	27,608,761 (GRCm39)	missense	possibly damaging	0.67
IGL01968:Adgra2	APN	8	27,611,263 (GRCm39)	nonsense	probably null
IGL02551:Adgra2	APN	8	27,609,250 (GRCm39)	missense	probably benign
IGL02820:Adgra2	APN	8	27,607,535 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Adgra2	UTSW	8	27,604,216 (GRCm39)	missense	possibly damaging	0.73
R0735:Adgra2	UTSW	8	27,607,346 (GRCm39)	missense	probably damaging	1.00
R0799:Adgra2	UTSW	8	27,602,523 (GRCm39)	missense	probably damaging	1.00
R1183:Adgra2	UTSW	8	27,604,416 (GRCm39)	missense	probably damaging	1.00
R1276:Adgra2	UTSW	8	27,609,852 (GRCm39)	missense	probably damaging	0.99
R1389:Adgra2	UTSW	8	27,601,116 (GRCm39)	missense	probably damaging	1.00
R1514:Adgra2	UTSW	8	27,611,306 (GRCm39)	nonsense	probably null
R1601:Adgra2	UTSW	8	27,600,046 (GRCm39)	splice site	probably null
R1760:Adgra2	UTSW	8	27,609,795 (GRCm39)	missense	probably damaging	1.00
R1957:Adgra2	UTSW	8	27,601,196 (GRCm39)	missense	possibly damaging	0.64
R1977:Adgra2	UTSW	8	27,605,789 (GRCm39)	missense	possibly damaging	0.80
R2164:Adgra2	UTSW	8	27,604,232 (GRCm39)	nonsense	probably null
R2181:Adgra2	UTSW	8	27,611,701 (GRCm39)	missense	probably damaging	0.99
R4282:Adgra2	UTSW	8	27,609,272 (GRCm39)	missense	possibly damaging	0.54
R4724:Adgra2	UTSW	8	27,588,850 (GRCm39)	missense	possibly damaging	0.91
R4749:Adgra2	UTSW	8	27,604,225 (GRCm39)	missense	probably damaging	1.00
R4809:Adgra2	UTSW	8	27,600,507 (GRCm39)	nonsense	probably null
R5718:Adgra2	UTSW	8	27,603,514 (GRCm39)	critical splice donor site	probably null
R6025:Adgra2	UTSW	8	27,604,491 (GRCm39)	missense	probably damaging	0.99
R6078:Adgra2	UTSW	8	27,604,457 (GRCm39)	missense	probably damaging	1.00
R6079:Adgra2	UTSW	8	27,604,457 (GRCm39)	missense	probably damaging	1.00
R6138:Adgra2	UTSW	8	27,604,457 (GRCm39)	missense	probably damaging	1.00
R6140:Adgra2	UTSW	8	27,605,433 (GRCm39)	missense	probably damaging	1.00
R6321:Adgra2	UTSW	8	27,604,190 (GRCm39)	missense	probably benign	0.02
R6385:Adgra2	UTSW	8	27,608,878 (GRCm39)	missense	probably damaging	1.00
R6676:Adgra2	UTSW	8	27,601,268 (GRCm39)	missense	possibly damaging	0.50
R6724:Adgra2	UTSW	8	27,604,210 (GRCm39)	missense	possibly damaging	0.93
R6862:Adgra2	UTSW	8	27,603,465 (GRCm39)	missense	probably damaging	0.98
R6862:Adgra2	UTSW	8	27,603,464 (GRCm39)	missense	probably benign	0.01
R7140:Adgra2	UTSW	8	27,610,929 (GRCm39)	critical splice donor site	probably null
R7242:Adgra2	UTSW	8	27,612,055 (GRCm39)	missense	probably damaging	1.00
R7861:Adgra2	UTSW	8	27,604,485 (GRCm39)	missense	probably damaging	0.98
R7882:Adgra2	UTSW	8	27,607,440 (GRCm39)	missense	probably benign	0.15
R8069:Adgra2	UTSW	8	27,609,251 (GRCm39)	missense	probably benign	0.01
R8146:Adgra2	UTSW	8	27,604,202 (GRCm39)	missense	probably damaging	0.99
R9080:Adgra2	UTSW	8	27,604,529 (GRCm39)	missense	probably benign	0.02
R9103:Adgra2	UTSW	8	27,603,436 (GRCm39)	missense	probably damaging	1.00
R9135:Adgra2	UTSW	8	27,610,979 (GRCm39)	missense	probably damaging	1.00
R9425:Adgra2	UTSW	8	27,576,094 (GRCm39)	missense	probably benign	0.04
R9473:Adgra2	UTSW	8	27,610,943 (GRCm39)	missense	probably damaging	0.99
R9643:Adgra2	UTSW	8	27,612,031 (GRCm39)	missense	possibly damaging	0.48
R9648:Adgra2	UTSW	8	27,609,172 (GRCm39)	missense	probably damaging	1.00
X0050:Adgra2	UTSW	8	27,603,446 (GRCm39)	missense	probably benign	0.32
X0062:Adgra2	UTSW	8	27,610,834 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TGCTTCCCCATTGCCTAGAG -3'
(R):5'- AGCTAGCCTGACCTTTCCTG -3'

Sequencing Primer
(F):5'- TGAGAGGTTGGATAGCTC -3'
(R):5'- GCCCTACAAAGCTAGCAGAGAG -3'

Posted On

2018-02-28