Incidental Mutation 'IGL01510:Gpr21'
ID89178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr21
Ensembl Gene ENSMUSG00000053164
Gene NameG protein-coupled receptor 21
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL01510
Quality Score
Status
Chromosome2
Chromosomal Location37516332-37520603 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 37518421 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 326 (C326*)
Ref Sequence ENSEMBL: ENSMUSP00000066449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000065441] [ENSMUST00000066055] [ENSMUST00000112920] [ENSMUST00000183690]
Predicted Effect probably benign
Transcript: ENSMUST00000061179
SMART Domains Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
PTB 138 271 2.99e-30 SMART
Pfam:DUF3694 301 433 1.1e-38 PFAM
low complexity region 449 460 N/A INTRINSIC
low complexity region 473 481 N/A INTRINSIC
low complexity region 502 516 N/A INTRINSIC
TBC 558 770 9.27e-74 SMART
Blast:TBC 803 880 9e-33 BLAST
coiled coil region 986 1038 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000065441
AA Change: C326*
SMART Domains Protein: ENSMUSP00000066449
Gene: ENSMUSG00000053164
AA Change: C326*

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 34 239 4.8e-7 PFAM
Pfam:7tm_4 34 307 3.3e-9 PFAM
Pfam:7tm_1 45 304 9.4e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066055
SMART Domains Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
PTB 138 271 2.99e-30 SMART
Pfam:DUF3694 301 433 7.1e-39 PFAM
low complexity region 449 460 N/A INTRINSIC
low complexity region 473 481 N/A INTRINSIC
low complexity region 502 516 N/A INTRINSIC
TBC 558 770 9.27e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112920
SMART Domains Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
PTB 138 271 2.99e-30 SMART
Pfam:DUF3694 301 432 1.6e-35 PFAM
low complexity region 449 460 N/A INTRINSIC
low complexity region 473 481 N/A INTRINSIC
low complexity region 502 516 N/A INTRINSIC
TBC 558 770 9.27e-74 SMART
Blast:TBC 803 880 9e-33 BLAST
coiled coil region 986 1038 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159737
Predicted Effect probably benign
Transcript: ENSMUST00000183690
SMART Domains Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 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 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit improved glucose tolerance, insulin response and resistance to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,143,979 Q6R probably damaging Het
Adam5 A T 8: 24,804,465 C373S probably damaging Het
Adgre4 T C 17: 55,818,760 probably null Het
Akap10 A T 11: 61,878,020 M614K possibly damaging Het
Amigo2 T C 15: 97,245,081 T487A probably benign Het
Asap1 T C 15: 64,158,928 D300G probably damaging Het
Atp4a C A 7: 30,720,791 L788M probably benign Het
Bcl3 T A 7: 19,809,614 H309L probably damaging Het
Cblc T C 7: 19,785,275 N376S probably benign Het
Cd200r2 A T 16: 44,909,311 I110L probably benign Het
Ceacam3 T C 7: 17,159,842 M426T probably benign Het
Cep295 G A 9: 15,354,626 R29* probably null Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ctps G T 4: 120,558,844 T194K probably damaging Het
Cul3 A G 1: 80,282,679 S318P probably damaging Het
Fasl A T 1: 161,781,953 S155T possibly damaging Het
Gldc C T 19: 30,113,721 probably null Het
Gtf2a1 A G 12: 91,567,833 S216P probably benign Het
Hoxb5 A T 11: 96,303,992 S127C possibly damaging Het
Htt A T 5: 34,907,512 Q3023L probably damaging Het
Kalrn T A 16: 34,235,330 H855L possibly damaging Het
Lars T C 18: 42,242,109 I289V probably benign Het
Lrig3 C A 10: 126,008,698 T677K probably damaging Het
Mapk7 A T 11: 61,491,160 W309R probably damaging Het
Mmp12 A G 9: 7,358,307 T468A possibly damaging Het
Muc5b A T 7: 141,859,061 N1915Y unknown Het
Naprt A G 15: 75,890,988 probably benign Het
Nfatc1 T C 18: 80,698,188 Y199C probably damaging Het
Olfr857 A T 9: 19,713,279 I151F probably benign Het
Olfr919 T C 9: 38,697,905 I158V probably benign Het
Phip T A 9: 82,913,871 I566F probably benign Het
Pnpla3 T A 15: 84,171,072 probably benign Het
Ptpn13 C T 5: 103,562,300 T1567I probably damaging Het
Ptpn20 A G 14: 33,638,386 probably null Het
Ptprq G T 10: 107,712,048 T163K probably damaging Het
Slc8a1 A G 17: 81,648,365 C415R probably damaging Het
Slco4c1 A G 1: 96,867,953 S127P probably damaging Het
Tcerg1l A T 7: 138,394,305 probably benign Het
Thbd C T 2: 148,406,974 V325M probably damaging Het
Trim37 G A 11: 87,177,860 R344H probably damaging Het
Ttn T C 2: 76,872,765 probably benign Het
Uvrag G A 7: 99,004,589 Q65* probably null Het
Wrap53 G A 11: 69,562,740 S342L possibly damaging Het
Zbtb11 T G 16: 55,990,343 V288G probably damaging Het
Other mutations in Gpr21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01877:Gpr21 APN 2 37518081 missense probably benign 0.13
IGL03265:Gpr21 APN 2 37518074 missense probably damaging 1.00
lasco UTSW 2 37517544 missense probably damaging 0.99
R0573:Gpr21 UTSW 2 37517544 missense probably damaging 0.99
R1548:Gpr21 UTSW 2 37518072 missense probably damaging 1.00
R1781:Gpr21 UTSW 2 37517538 missense probably benign 0.00
R1922:Gpr21 UTSW 2 37518338 missense probably damaging 0.99
R2011:Gpr21 UTSW 2 37517535 missense probably damaging 1.00
R2144:Gpr21 UTSW 2 37518231 missense probably benign 0.02
R3818:Gpr21 UTSW 2 37518312 missense probably damaging 1.00
R3978:Gpr21 UTSW 2 37517850 missense probably benign 0.23
R4412:Gpr21 UTSW 2 37517432 intron probably benign
R4466:Gpr21 UTSW 2 37517558 missense probably benign 0.10
R6807:Gpr21 UTSW 2 37517962 nonsense probably null
Posted On2013-12-03