Incidental Mutation 'IGL00594:Adgrg2'
ID3079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgrg2
Ensembl Gene ENSMUSG00000031298
Gene Nameadhesion G protein-coupled receptor G2
SynonymsGpr64, Me6, B830041D06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00594
Quality Score
Status
ChromosomeX
Chromosomal Location160390690-160498070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 160485777 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 677 (V677I)
Ref Sequence ENSEMBL: ENSMUSP00000108021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112398] [ENSMUST00000112400] [ENSMUST00000112401] [ENSMUST00000112402] [ENSMUST00000112404] [ENSMUST00000112405] [ENSMUST00000112408]
Predicted Effect probably benign
Transcript: ENSMUST00000112398
AA Change: V688I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108017
Gene: ENSMUSG00000031298
AA Change: V688I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112400
AA Change: V691I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000108019
Gene: ENSMUSG00000031298
AA Change: V691I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112401
AA Change: V674I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000108020
Gene: ENSMUSG00000031298
AA Change: V674I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112402
AA Change: V677I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108021
Gene: ENSMUSG00000031298
AA Change: V677I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112404
AA Change: V664I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108023
Gene: ENSMUSG00000031298
AA Change: V664I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112405
AA Change: V675I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108024
Gene: ENSMUSG00000031298
AA Change: V675I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112408
AA Change: V688I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108027
Gene: ENSMUSG00000031298
AA Change: V688I

DomainStartEndE-ValueType
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Adgrg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Adgrg2 APN X 160488719 missense probably damaging 1.00
IGL01125:Adgrg2 APN X 160492708 missense probably damaging 1.00
IGL02427:Adgrg2 APN X 160491404 missense probably damaging 1.00
IGL03177:Adgrg2 APN X 160438263 missense possibly damaging 0.53
R1864:Adgrg2 UTSW X 160482351 missense probably benign 0.01
R1865:Adgrg2 UTSW X 160482351 missense probably benign 0.01
R3875:Adgrg2 UTSW X 160478996 missense probably benign 0.30
R4254:Adgrg2 UTSW X 160482408 missense possibly damaging 0.86
Posted On2012-04-20