Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Adgra2'

607521

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

045914-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7861 (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 G at 27604485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 520 (E520G)

Ref Sequence

ENSEMBL: ENSMUSP00000033876 (fasta)

Gene Model

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

AlphaFold

Q91ZV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000033876
AA Change: E520G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: E520G

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 damaging
Transcript: ENSMUST00000178514
AA Change: E520G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: E520G

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: 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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,797,360 (GRCm39)	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,248,075 (GRCm39)	D1175G	probably null	Het
Accs	C	A	2: 93,666,077 (GRCm39)	*503L	probably null	Het
Aldh7a1	C	A	18: 56,681,525 (GRCm39)	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,706,990 (GRCm39)	D9A	unknown	Het
Atad2	G	A	15: 57,989,176 (GRCm39)	A228V	probably benign	Het
Atp10a	T	C	7: 58,438,107 (GRCm39)	S430P	probably damaging	Het
Atp1a3	T	C	7: 24,700,573 (GRCm39)	D6G	unknown	Het
Brca1	A	T	11: 101,417,248 (GRCm39)	N295K	possibly damaging	Het
Caly	C	A	7: 139,661,301 (GRCm39)		probably benign	Het
Ces1h	A	G	8: 94,084,053 (GRCm39)	Y386H	unknown	Het
Col14a1	A	G	15: 55,308,012 (GRCm39)	D1044G	unknown	Het
Csf2rb	A	G	15: 78,233,357 (GRCm39)	D888G	probably damaging	Het
Cux1	T	C	5: 136,281,458 (GRCm39)	E568G	possibly damaging	Het
Dhrs7b	T	A	11: 60,746,568 (GRCm39)	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnah14	C	T	1: 181,444,324 (GRCm39)	P545S	probably damaging	Het
Dnajc24	A	T	2: 105,832,380 (GRCm39)	M1K	probably null	Het
Dusp12	C	T	1: 170,702,095 (GRCm39)	W301*	probably null	Het
Dyrk1a	G	T	16: 94,492,575 (GRCm39)	G603*	probably null	Het
Eif4g1	T	A	16: 20,498,452 (GRCm39)	V403E	probably benign	Het
Epn3	T	C	11: 94,387,100 (GRCm39)	E90G	probably damaging	Het
Etl4	A	G	2: 20,810,721 (GRCm39)	S1303G	probably benign	Het
Evpl	A	T	11: 116,118,895 (GRCm39)	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,493,625 (GRCm39)	L22*	probably null	Het
Fcamr	T	A	1: 130,742,375 (GRCm39)	N587K	probably benign	Het
Fgd6	A	G	10: 93,939,193 (GRCm39)	N946S	probably benign	Het
Fndc3b	A	T	3: 27,523,148 (GRCm39)	I477N	possibly damaging	Het
Grifin	C	T	5: 140,550,280 (GRCm39)	A54T	probably benign	Het
Gtf2b	A	G	3: 142,487,105 (GRCm39)	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559 (GRCm39)	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,458,788 (GRCm39)	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,420,623 (GRCm39)	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,917,322 (GRCm39)	D617E	probably damaging	Het
Kifc3	T	A	8: 95,834,165 (GRCm39)		probably null	Het
Kirrel3	C	T	9: 34,931,419 (GRCm39)	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,443,820 (GRCm39)	V132I	probably benign	Het
Kmt2a	A	G	9: 44,730,031 (GRCm39)	S3429P	unknown	Het
Lama1	T	G	17: 68,116,216 (GRCm39)	L2361R		Het
Lrp1b	T	C	2: 40,587,570 (GRCm39)	D3895G		Het
Mcoln3	A	C	3: 145,830,546 (GRCm39)	E92A	possibly damaging	Het
Myo3b	T	C	2: 69,939,032 (GRCm39)	M135T	probably damaging	Het
Mysm1	A	G	4: 94,835,204 (GRCm39)	*820Q	probably null	Het
Ncoa7	A	G	10: 30,567,056 (GRCm39)	S541P	probably benign	Het
Nup54	T	C	5: 92,578,952 (GRCm39)	T33A	unknown	Het
Or10al2	C	A	17: 37,983,408 (GRCm39)	Q165K	possibly damaging	Het
Or13a17	T	G	7: 140,271,484 (GRCm39)	I222S	probably damaging	Het
Or1s2	T	C	19: 13,758,810 (GRCm39)	V276A	possibly damaging	Het
Or4k42	T	A	2: 111,320,369 (GRCm39)	I45F	probably damaging	Het
Or51a5	T	A	7: 102,771,899 (GRCm39)	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414 (GRCm39)	C18R	probably benign	Het
Pde4d	A	G	13: 110,071,858 (GRCm39)	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pidd1	C	A	7: 141,020,055 (GRCm39)	W598L	probably damaging	Het
Pira2	A	T	7: 3,847,543 (GRCm39)	C49S	probably damaging	Het
Pramel11	T	C	4: 143,624,288 (GRCm39)	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,550,935 (GRCm39)	D135E	probably benign	Het
Rab15	T	A	12: 76,849,903 (GRCm39)	Y88F	probably damaging	Het
Rem2	C	A	14: 54,715,256 (GRCm39)	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,301,406 (GRCm39)	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,295,666 (GRCm39)	Q119*	probably null	Het
Suclg2	G	T	6: 95,571,703 (GRCm39)	Q120K	probably benign	Het
Tacc2	T	A	7: 130,227,161 (GRCm39)	M1282K	probably benign	Het
Tbc1d5	T	A	17: 51,063,720 (GRCm39)	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,709,590 (GRCm39)	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,087,435 (GRCm39)	F1184Y	probably benign	Het
Trim28	T	A	7: 12,762,339 (GRCm39)	V321E	possibly damaging	Het
Trim5	C	A	7: 103,915,675 (GRCm39)		probably null	Het
Ugt2b37	A	T	5: 87,390,299 (GRCm39)	Y382*	probably null	Het
Usp40	C	T	1: 87,909,852 (GRCm39)	G534D	probably damaging	Het
Usp53	A	T	3: 122,728,112 (GRCm39)	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,235,829 (GRCm39)	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,449,351 (GRCm39)	I296F	probably benign	Het
Vps13a	T	C	19: 16,632,668 (GRCm39)	S2563G	probably damaging	Het
Wdr59	A	G	8: 112,220,912 (GRCm39)	F207L		Het
Zan	A	G	5: 137,405,295 (GRCm39)	S3777P	unknown	Het
Zfp277	T	C	12: 40,365,880 (GRCm39)	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,745,749 (GRCm39)	R10W	probably damaging	Het
Zfp384	A	T	6: 125,013,288 (GRCm39)	H452L	probably damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve28	A	T	5: 34,374,487 (GRCm39)	L509Q	probably 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
R6232:Adgra2	UTSW	8	27,609,193 (GRCm39)	missense	probably benign	0.19
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
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'- TGCTGAGTCCCAAATACCAC -3'
(R):5'- TCGGCCAGCTAACCTTCAAC -3'

Sequencing Primer
(F):5'- ACCCCTGCCCTTGGTAACG -3'
(R):5'- TACCAGAGCCTGCAACGTG -3'

Posted On

2019-12-20