Incidental Mutation 'IGL03177:Adgrg2'
ID412055
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 #IGL03177
Quality Score
Status
ChromosomeX
Chromosomal Location160390690-160498070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 160438263 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 23 (I23T)
Ref Sequence ENSEMBL: ENSMUSP00000118598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112398] [ENSMUST00000112400] [ENSMUST00000112401] [ENSMUST00000112402] [ENSMUST00000112404] [ENSMUST00000112405] [ENSMUST00000112408] [ENSMUST00000146805]
Predicted Effect probably benign
Transcript: ENSMUST00000112398
AA Change: I23T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108017
Gene: ENSMUSG00000031298
AA Change: I23T

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: I23T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108019
Gene: ENSMUSG00000031298
AA Change: I23T

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: I23T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108020
Gene: ENSMUSG00000031298
AA Change: I23T

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: I23T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108021
Gene: ENSMUSG00000031298
AA Change: I23T

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: I23T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108023
Gene: ENSMUSG00000031298
AA Change: I23T

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: I23T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108024
Gene: ENSMUSG00000031298
AA Change: I23T

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: I23T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108027
Gene: ENSMUSG00000031298
AA Change: I23T

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: ENSMUST00000123450
Predicted Effect possibly damaging
Transcript: ENSMUST00000146805
AA Change: I23T

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118598
Gene: ENSMUSG00000031298
AA Change: I23T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging Het
Other mutations in Adgrg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Adgrg2 APN X 160485777 missense probably benign 0.01
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
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 On2016-08-02