Mutagenetix > Incidental Mutation

Incidental Mutation 'R6676:Adgra2'

527288

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

044795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6676 (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 27601268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 303 (I303F)

Ref Sequence

ENSEMBL: ENSMUSP00000033876 (fasta)

Gene Model

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

AlphaFold

Q91ZV8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033876
AA Change: I303F

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: I303F

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: ENSMUST00000178514
AA Change: I303F

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: I303F

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.3%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cldn9	A	G	17: 23,902,023 (GRCm39)	S201P	probably benign	Het
Clstn2	G	T	9: 97,343,584 (GRCm39)	P621Q	probably damaging	Het
Ctdspl2	A	G	2: 121,837,445 (GRCm39)	N403S	probably damaging	Het
Cyp2j5	T	C	4: 96,524,045 (GRCm39)	Y329C	possibly damaging	Het
Elapor1	A	G	3: 108,377,231 (GRCm39)	L461P	probably damaging	Het
Elovl1	A	G	4: 118,287,700 (GRCm39)		probably benign	Het
Fam83a	A	G	15: 57,856,439 (GRCm39)	D206G	possibly damaging	Het
Fancd2	C	T	6: 113,514,626 (GRCm39)	Q144*	probably null	Het
Fhl2	T	C	1: 43,170,970 (GRCm39)	M115V	possibly damaging	Het
Fry	T	A	5: 150,304,387 (GRCm39)	D592E	probably benign	Het
Lrp1	G	A	10: 127,396,005 (GRCm39)	H2422Y	probably damaging	Het
Mamdc2	T	A	19: 23,280,997 (GRCm39)	I684F	probably damaging	Het
Mia2	T	C	12: 59,155,156 (GRCm39)	Y290H	probably damaging	Het
Mup12	C	T	4: 60,696,642 (GRCm39)		probably null	Het
Olr1	T	A	6: 129,477,040 (GRCm39)		probably null	Het
Or51a24	T	C	7: 103,733,661 (GRCm39)	T209A	probably benign	Het
Pcdhb15	T	C	18: 37,607,860 (GRCm39)	V364A	possibly damaging	Het
Pfkp	A	G	13: 6,636,575 (GRCm39)	S654P	possibly damaging	Het
Rab3gap2	T	G	1: 185,015,607 (GRCm39)	V1275G	probably damaging	Het
Rbbp4	A	G	4: 129,222,414 (GRCm39)	F93L	probably benign	Het
Ripk1	T	C	13: 34,194,587 (GRCm39)	V75A	probably damaging	Het
Scg2	T	A	1: 79,413,499 (GRCm39)	Q368L	possibly damaging	Het
Tmprss9	A	G	10: 80,734,145 (GRCm39)		probably benign	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
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'- CTGATGTCTCATGCACAGAAGG -3'
(R):5'- ATCTTAGCTCTCTGTCACCGGG -3'

Sequencing Primer
(F):5'- TCATGCACAGAAGGGGCCC -3'
(R):5'- GATTATGGACTGGACCTCTGAACC -3'

Posted On

2018-07-23