Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02427:Adgrg2'

292952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgrg2

Ensembl Gene

ENSMUSG00000031298

Gene Name

adhesion G protein-coupled receptor G2

Synonyms

B830041D06Rik, Gpr64, Me6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02427

Quality Score

Status

Chromosome

Chromosomal Location

159173686-159281066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 159274400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 863 (F863S)

Ref Sequence

ENSEMBL: ENSMUSP00000108027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112398] [ENSMUST00000112400] [ENSMUST00000112401] [ENSMUST00000112402] [ENSMUST00000112404] [ENSMUST00000112405] [ENSMUST00000112408]

AlphaFold

Q8CJ12

Predicted Effect

probably damaging
Transcript: ENSMUST00000112398
AA Change: F863S

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

SMART Domains

Protein: ENSMUSP00000108017
Gene: ENSMUSG00000031298
AA Change: F863S

Domain	Start	End	E-Value	Type
low complexity region	44	58	N/A	INTRINSIC
low complexity region	206	218	N/A	INTRINSIC
low complexity region	242	253	N/A	INTRINSIC
low complexity region	306	318	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
low complexity region	397	413	N/A	INTRINSIC
low complexity region	426	439	N/A	INTRINSIC
GPS	555	607	1.56e-18	SMART
Pfam:7tm_2	614	864	6.6e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112400
AA Change: F866S

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

SMART Domains

Protein: ENSMUSP00000108019
Gene: ENSMUSG00000031298
AA Change: F866S

Domain	Start	End	E-Value	Type
low complexity region	44	58	N/A	INTRINSIC
low complexity region	209	221	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
low complexity region	309	321	N/A	INTRINSIC
low complexity region	333	347	N/A	INTRINSIC
low complexity region	400	416	N/A	INTRINSIC
low complexity region	429	442	N/A	INTRINSIC
GPS	558	610	1.56e-18	SMART
Pfam:7tm_2	617	867	5.8e-63	PFAM
low complexity region	910	939	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112401
AA Change: F849S

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

SMART Domains

Protein: ENSMUSP00000108020
Gene: ENSMUSG00000031298
AA Change: F849S

Domain	Start	End	E-Value	Type
low complexity region	44	58	N/A	INTRINSIC
low complexity region	192	204	N/A	INTRINSIC
low complexity region	228	239	N/A	INTRINSIC
low complexity region	292	304	N/A	INTRINSIC
low complexity region	316	330	N/A	INTRINSIC
low complexity region	383	399	N/A	INTRINSIC
low complexity region	412	425	N/A	INTRINSIC
GPS	541	593	1.56e-18	SMART
Pfam:7tm_2	600	850	1.8e-63	PFAM
low complexity region	893	922	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112402
AA Change: F852S

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

SMART Domains

Protein: ENSMUSP00000108021
Gene: ENSMUSG00000031298
AA Change: F852S

Domain	Start	End	E-Value	Type
low complexity region	44	58	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
low complexity region	319	333	N/A	INTRINSIC
low complexity region	386	402	N/A	INTRINSIC
low complexity region	415	428	N/A	INTRINSIC
GPS	544	596	1.56e-18	SMART
Pfam:7tm_2	603	853	9.9e-64	PFAM
low complexity region	896	925	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112404
AA Change: F839S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108023
Gene: ENSMUSG00000031298
AA Change: F839S

Domain	Start	End	E-Value	Type
low complexity region	182	194	N/A	INTRINSIC
low complexity region	218	229	N/A	INTRINSIC
low complexity region	282	294	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	373	389	N/A	INTRINSIC
low complexity region	402	415	N/A	INTRINSIC
GPS	531	583	1.56e-18	SMART
Pfam:7tm_2	590	840	9.7e-64	PFAM
low complexity region	883	912	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112405
AA Change: F850S

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

SMART Domains

Protein: ENSMUSP00000108024
Gene: ENSMUSG00000031298
AA Change: F850S

Domain	Start	End	E-Value	Type
low complexity region	193	205	N/A	INTRINSIC
low complexity region	229	240	N/A	INTRINSIC
low complexity region	293	305	N/A	INTRINSIC
low complexity region	317	331	N/A	INTRINSIC
low complexity region	384	400	N/A	INTRINSIC
low complexity region	413	426	N/A	INTRINSIC
GPS	542	594	1.56e-18	SMART
Pfam:7tm_2	601	851	9.9e-64	PFAM
low complexity region	894	923	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112408
AA Change: F863S

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

SMART Domains

Protein: ENSMUSP00000108027
Gene: ENSMUSG00000031298
AA Change: F863S

Domain	Start	End	E-Value	Type
low complexity region	44	58	N/A	INTRINSIC
low complexity region	206	218	N/A	INTRINSIC
low complexity region	242	253	N/A	INTRINSIC
low complexity region	306	318	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
low complexity region	397	413	N/A	INTRINSIC
low complexity region	426	439	N/A	INTRINSIC
GPS	555	607	1.56e-18	SMART
Pfam:7tm_2	614	864	1e-63	PFAM
low complexity region	907	936	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125700

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Hemizygous null male mice display reduced fertility, oligozoospermia, teratozoospermia, asthenozoospermia, abnormal epididymis morphology, and abnormal fluid accumulation resulting in enlarged testes and dilated seminiferous tubules. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	C	T	5: 99,381,829 (GRCm39)	G311D	probably damaging	Het
Ablim1	A	T	19: 57,068,312 (GRCm39)		probably benign	Het
B3galt2	A	T	1: 143,522,254 (GRCm39)	H130L	probably benign	Het
Bbs2	G	A	8: 94,807,746 (GRCm39)	P378S	possibly damaging	Het
Ccdc154	A	T	17: 25,390,731 (GRCm39)		probably null	Het
Ccdc88c	C	T	12: 100,887,851 (GRCm39)	C1543Y	probably damaging	Het
Cdcp3	T	A	7: 130,846,517 (GRCm39)	V647E	probably damaging	Het
Cfap77	A	T	2: 28,845,592 (GRCm39)	C258*	probably null	Het
Cpsf4l	T	G	11: 113,600,324 (GRCm39)		probably benign	Het
Csrnp3	G	A	2: 65,708,380 (GRCm39)		probably benign	Het
Cul9	G	A	17: 46,813,558 (GRCm39)	T2305I	possibly damaging	Het
Cwf19l1	G	A	19: 44,121,462 (GRCm39)	Q29*	probably null	Het
Cwf19l2	G	T	9: 3,456,817 (GRCm39)	V717L	probably benign	Het
Cyp1a1	A	G	9: 57,607,858 (GRCm39)	Y162C	probably damaging	Het
Dlg5	T	C	14: 24,216,275 (GRCm39)	D589G	probably damaging	Het
Dmbt1	G	T	7: 130,689,815 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,784,595 (GRCm39)	Y705H	possibly damaging	Het
Fancd2	T	A	6: 113,526,313 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,443,184 (GRCm39)	N2527Y	probably damaging	Het
Gm7694	T	C	1: 170,130,113 (GRCm39)	D95G	probably benign	Het
Haus5	T	C	7: 30,361,196 (GRCm39)	T115A	probably benign	Het
Kdm3a	A	T	6: 71,569,184 (GRCm39)		probably benign	Het
Klra6	T	C	6: 129,993,680 (GRCm39)	D197G	possibly damaging	Het
Lap3	T	C	5: 45,668,475 (GRCm39)	V429A	probably damaging	Het
Mroh2b	G	T	15: 4,981,042 (GRCm39)		probably benign	Het
Myh9	T	A	15: 77,660,004 (GRCm39)	Q88L	probably damaging	Het
Myo5a	T	C	9: 75,083,900 (GRCm39)		probably benign	Het
Negr1	C	T	3: 156,267,827 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,025 (GRCm39)	D570V	probably damaging	Het
Nlrp9b	T	G	7: 19,776,426 (GRCm39)	C337W	probably damaging	Het
Obscn	A	T	11: 58,957,988 (GRCm39)	C3780S	probably damaging	Het
Or1e19	A	T	11: 73,316,487 (GRCm39)	F107L	probably damaging	Het
Piwil2	T	A	14: 70,635,583 (GRCm39)		probably benign	Het
Ppp6r3	T	C	19: 3,516,580 (GRCm39)	S213G	probably null	Het
Pxdn	T	A	12: 30,034,531 (GRCm39)	C39S	probably damaging	Het
Raf1	T	C	6: 115,608,288 (GRCm39)	N241S	probably benign	Het
Rapgef3	A	T	15: 97,645,017 (GRCm39)		probably null	Het
Rhox2h	C	T	X: 36,854,526 (GRCm39)	G72D	probably benign	Het
Sbf1	T	C	15: 89,190,188 (GRCm39)		probably benign	Het
Sema5a	T	C	15: 32,673,690 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,688 (GRCm39)	D993G	probably damaging	Het
Slc5a4b	A	T	10: 75,894,713 (GRCm39)	C598S	possibly damaging	Het
Sorl1	T	C	9: 41,952,986 (GRCm39)	D685G	probably damaging	Het
Sulf2	C	T	2: 165,931,218 (GRCm39)	R263H	probably damaging	Het
Tbx22	C	A	X: 106,724,777 (GRCm39)	P17T	probably damaging	Het
Tspoap1	A	T	11: 87,653,341 (GRCm39)	T136S	probably benign	Het
Tyw5	T	C	1: 57,427,884 (GRCm39)	E240G	possibly damaging	Het
Umodl1	C	T	17: 31,187,415 (GRCm39)		probably benign	Het
Vmn1r60	T	C	7: 5,547,780 (GRCm39)	T107A	probably damaging	Het
Zbbx	T	C	3: 75,046,905 (GRCm39)	T121A	probably benign	Het
Zbtb11	A	G	16: 55,802,713 (GRCm39)	D241G	possibly damaging	Het
Zfp445	T	C	9: 122,681,295 (GRCm39)	H882R	probably benign	Het
Zscan30	T	C	18: 24,104,533 (GRCm39)		noncoding transcript	Het

Other mutations in Adgrg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Adgrg2	APN	X	159,268,773 (GRCm39)	missense	probably benign	0.01
IGL00742:Adgrg2	APN	X	159,271,715 (GRCm39)	missense	probably damaging	1.00
IGL01125:Adgrg2	APN	X	159,275,704 (GRCm39)	missense	probably damaging	1.00
IGL03177:Adgrg2	APN	X	159,221,259 (GRCm39)	missense	possibly damaging	0.53
R1864:Adgrg2	UTSW	X	159,265,347 (GRCm39)	missense	probably benign	0.01
R1865:Adgrg2	UTSW	X	159,265,347 (GRCm39)	missense	probably benign	0.01
R3875:Adgrg2	UTSW	X	159,261,992 (GRCm39)	missense	probably benign	0.30
R4254:Adgrg2	UTSW	X	159,265,404 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-04-16