Mutagenetix > Incidental Mutation

Incidental Mutation 'R9103:Adgra2'

691816

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27575611-27613464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27603436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 407 (G407D)

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: G407D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: G407D

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: G407D

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

SMART Domains

Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: G407D

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,454,558 (GRCm39)	C458*	probably null	Het
Aox4	G	A	1: 58,296,441 (GRCm39)	G1046E	probably damaging	Het
Arhgap27	A	G	11: 103,251,540 (GRCm39)	Y63H	probably damaging	Het
Ascl3	A	T	7: 109,327,127 (GRCm39)	M64K	probably benign	Het
Cacna2d3	G	A	14: 29,068,971 (GRCm39)	T252I	probably damaging	Het
Capn7	A	G	14: 31,091,732 (GRCm39)	T710A	probably benign	Het
Carmil1	A	G	13: 24,295,836 (GRCm39)	C393R	probably benign	Het
Chd5	A	C	4: 152,461,444 (GRCm39)	E1215A	possibly damaging	Het
Cntnap1	A	G	11: 101,072,094 (GRCm39)	N449S	probably benign	Het
Cpz	G	A	5: 35,675,054 (GRCm39)	S65L	probably benign	Het
Cyp2c68	T	A	19: 39,727,625 (GRCm39)	N118I	possibly damaging	Het
Ddx25	A	T	9: 35,458,085 (GRCm39)	F345I	probably benign	Het
Dennd2d	T	C	3: 106,397,684 (GRCm39)	Y161H		Het
Egfl8	C	T	17: 34,833,210 (GRCm39)	D179N	probably benign	Het
Eif2a	A	G	3: 58,452,461 (GRCm39)	N174S		Het
Farp1	C	T	14: 121,509,104 (GRCm39)	H643Y	possibly damaging	Het
Fat1	G	T	8: 45,404,850 (GRCm39)	V534L	probably benign	Het
Fbxo48	A	G	11: 16,903,556 (GRCm39)	T61A	probably benign	Het
Fnbp4	A	G	2: 90,608,187 (GRCm39)	T970A	probably benign	Het
Foxd1	T	A	13: 98,491,763 (GRCm39)	D212E	possibly damaging	Het
Fstl4	C	A	11: 52,664,696 (GRCm39)	H9N	probably benign	Het
Fyb1	A	G	15: 6,673,232 (GRCm39)	D622G	possibly damaging	Het
Gm4787	T	A	12: 81,425,489 (GRCm39)	H223L	probably benign	Het
Grin3a	A	G	4: 49,771,179 (GRCm39)	V531A	probably damaging	Het
Gzmb	T	C	14: 56,498,622 (GRCm39)	D42G	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hsd17b6	A	G	10: 127,833,876 (GRCm39)	W2R	probably damaging	Het
Hspa4l	T	C	3: 40,715,349 (GRCm39)		probably null	Het
Igtp	A	G	11: 58,097,726 (GRCm39)	E299G		Het
Klhl28	T	C	12: 64,990,300 (GRCm39)	D547G	possibly damaging	Het
Leng8	G	C	7: 4,146,897 (GRCm39)	R473P	probably damaging	Het
Lin37	T	A	7: 30,257,055 (GRCm39)	N53Y	possibly damaging	Het
Lrp1	G	A	10: 127,430,979 (GRCm39)	Q357*	probably null	Het
Lrrfip2	A	T	9: 111,034,840 (GRCm39)	K176N	probably damaging	Het
Ltbp4	A	G	7: 27,028,186 (GRCm39)	S390P	unknown	Het
Map3k2	G	A	18: 32,353,625 (GRCm39)	R465H	possibly damaging	Het
Mthfd1	T	A	12: 76,350,517 (GRCm39)	V665E	probably damaging	Het
Myh3	A	T	11: 66,989,451 (GRCm39)	I1524F	probably benign	Het
Myo1g	A	G	11: 6,466,153 (GRCm39)	S339P	possibly damaging	Het
Nf1	A	G	11: 79,450,332 (GRCm39)	K506R	probably damaging	Het
Nudt21	A	G	8: 94,746,321 (GRCm39)	I225T	probably benign	Het
Or4c31	A	G	2: 88,291,942 (GRCm39)	K105R	probably benign	Het
Or56b1b	A	T	7: 108,164,780 (GRCm39)	L74Q	probably benign	Het
Or5g9	T	A	2: 85,552,527 (GRCm39)	Y259*	probably null	Het
Or8b3	A	G	9: 38,314,518 (GRCm39)	Y116C	probably damaging	Het
Or8c18	A	T	9: 38,203,969 (GRCm39)	I243F	probably damaging	Het
Pax2	C	T	19: 44,806,968 (GRCm39)	T299I	probably benign	Het
Pde4dip	C	T	3: 97,749,044 (GRCm39)	S99N	probably damaging	Het
Pdlim5	T	A	3: 142,010,174 (GRCm39)	H147L	possibly damaging	Het
Pfkfb3	T	A	2: 11,487,381 (GRCm39)	Y343F	probably damaging	Het
Phf10	A	G	17: 15,174,382 (GRCm39)	I232T	probably damaging	Het
Plcb3	C	T	19: 6,936,288 (GRCm39)	G745D	probably benign	Het
Pramel11	G	A	4: 143,624,381 (GRCm39)	L39F	probably damaging	Het
Recql	C	A	6: 142,322,515 (GRCm39)	C129F	possibly damaging	Het
Rrp1	C	T	10: 78,240,876 (GRCm39)	D288N	unknown	Het
Samd4	T	C	14: 47,254,066 (GRCm39)	Y177H	probably benign	Het
Sim1	T	A	10: 50,785,525 (GRCm39)	M198K	possibly damaging	Het
Six4	T	C	12: 73,155,964 (GRCm39)	I334M	probably damaging	Het
Slc27a6	T	C	18: 58,705,268 (GRCm39)	S217P	probably damaging	Het
Slc2a4	T	A	11: 69,836,218 (GRCm39)	K264N	probably benign	Het
Slc8b1	A	T	5: 120,670,939 (GRCm39)	I476F	probably benign	Het
Smcp	T	C	3: 92,491,838 (GRCm39)	D3G	unknown	Het
Tagap	A	T	17: 8,152,335 (GRCm39)	M507L	probably benign	Het
Thap11	A	G	8: 106,582,780 (GRCm39)	E263G	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Top3a	T	G	11: 60,654,253 (GRCm39)		probably null	Het
Ube2q2l	T	A	6: 136,378,011 (GRCm39)	D273V	probably benign	Het
Vmn1r31	A	G	6: 58,449,073 (GRCm39)	V264A	unknown	Het
Vti1a	A	C	19: 55,316,865 (GRCm39)	M81L	probably benign	Het
Wscd1	T	C	11: 71,674,245 (GRCm39)		probably null	Het
Zfp595	T	C	13: 67,464,676 (GRCm39)	E532G	probably damaging	Het
Zranb1	T	A	7: 132,584,167 (GRCm39)	V539D	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
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
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'- AGTGGTCTGGTGTCACAGTC -3'
(R):5'- CTTAATGCACACCCAGGAATCG -3'

Sequencing Primer
(F):5'- CTGGTGTCACAGTCCTGGG -3'
(R):5'- CACCAGCACAAAGGTGTA -3'

Posted On

2021-12-30