Incidental Mutation 'IGL01517:Gpr22'
ID278568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr22
Ensembl Gene ENSMUSG00000044067
Gene NameG protein-coupled receptor 22
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01517
Quality Score
Status
Chromosome12
Chromosomal Location31706867-31713947 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 31708710 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036862] [ENSMUST00000057783] [ENSMUST00000174480] [ENSMUST00000176710]
Predicted Effect probably benign
Transcript: ENSMUST00000036862
SMART Domains Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
Pfam:COG5 35 158 3.8e-37 PFAM
Pfam:Vps51 37 120 1.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057783
SMART Domains Protein: ENSMUSP00000056125
Gene: ENSMUSG00000044067

DomainStartEndE-ValueType
low complexity region 58 64 N/A INTRINSIC
Pfam:7tm_1 95 403 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174480
SMART Domains Protein: ENSMUSP00000134674
Gene: ENSMUSG00000044067

DomainStartEndE-ValueType
low complexity region 21 27 N/A INTRINSIC
Pfam:7tm_1 58 186 3.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176710
SMART Domains Protein: ENSMUSP00000134839
Gene: ENSMUSG00000044067

DomainStartEndE-ValueType
low complexity region 21 27 N/A INTRINSIC
Pfam:7tm_1 58 366 1.4e-26 PFAM
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 is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased response to aortic banding including decreased fractional shortening and decompensated heart failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,390,192 probably benign Het
Arpc1b A G 5: 145,127,869 probably benign Het
Ccdc54 G A 16: 50,589,917 L329F possibly damaging Het
Cdc42bpg G A 19: 6,318,437 R1055H probably damaging Het
Cylc1 A G X: 111,119,030 T29A possibly damaging Het
Ddx50 T C 10: 62,647,132 T53A probably benign Het
Dmap1 G A 4: 117,676,009 R283C probably damaging Het
Extl3 A T 14: 65,076,707 L342H probably damaging Het
Gjb3 A C 4: 127,326,121 I206S probably damaging Het
Gphn T A 12: 78,376,374 I53K probably damaging Het
Inpp5b T A 4: 124,782,436 C362S probably benign Het
Iqgap3 C A 3: 88,109,396 Q1062K probably benign Het
Kdm2a A G 19: 4,362,061 probably benign Het
Ltbp3 A G 19: 5,757,732 D1167G possibly damaging Het
Mpo A G 11: 87,795,821 N65D possibly damaging Het
Mrpl2 A G 17: 46,649,983 R268G probably damaging Het
Nfkbia C T 12: 55,490,645 A220T probably damaging Het
Nlrc3 T A 16: 3,947,487 I1091F probably damaging Het
Notch2 T A 3: 98,138,655 S1674R probably benign Het
Olfr298 T C 7: 86,489,557 probably benign Het
Olfr63 T A 17: 33,269,655 N310K probably benign Het
Pde8b A G 13: 95,100,887 probably null Het
Pla2r1 A G 2: 60,504,253 Y392H probably damaging Het
Plekhm1 A T 11: 103,394,783 N275K possibly damaging Het
Prdm16 T C 4: 154,328,425 H1041R probably damaging Het
Rapsn C A 2: 91,036,618 N88K probably damaging Het
Rasef T A 4: 73,769,822 Q31H probably benign Het
Rpl28-ps4 T C 6: 117,213,852 noncoding transcript Het
Trpc7 T C 13: 56,861,065 Y263C probably damaging Het
Ttn T C 2: 76,747,596 T24318A probably damaging Het
Vmn1r35 T C 6: 66,679,450 T79A probably benign Het
Vmn2r100 T A 17: 19,521,963 S200T probably benign Het
Wnt9b A G 11: 103,731,081 V250A probably benign Het
Zyg11a T A 4: 108,201,194 K383M probably null Het
Other mutations in Gpr22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Gpr22 APN 12 31708710 unclassified probably benign
IGL01533:Gpr22 APN 12 31708710 unclassified probably benign
IGL01585:Gpr22 APN 12 31709337 missense probably benign 0.23
IGL01601:Gpr22 APN 12 31710045 splice site probably benign
IGL01608:Gpr22 APN 12 31708780 nonsense probably null
IGL02307:Gpr22 APN 12 31708740 missense possibly damaging 0.95
IGL02440:Gpr22 APN 12 31709140 missense probably damaging 0.99
IGL02863:Gpr22 APN 12 31710007 missense probably benign 0.36
IGL03163:Gpr22 APN 12 31709172 missense possibly damaging 0.68
R0078:Gpr22 UTSW 12 31711641 missense probably benign
R0358:Gpr22 UTSW 12 31709982 missense probably benign 0.03
R0395:Gpr22 UTSW 12 31709462 missense possibly damaging 0.48
R0452:Gpr22 UTSW 12 31708794 missense possibly damaging 0.69
R0729:Gpr22 UTSW 12 31709313 missense probably damaging 1.00
R1295:Gpr22 UTSW 12 31709514 missense probably benign 0.01
R1991:Gpr22 UTSW 12 31709203 missense probably benign
R4201:Gpr22 UTSW 12 31708913 nonsense probably null
R5203:Gpr22 UTSW 12 31709788 missense probably damaging 1.00
R5505:Gpr22 UTSW 12 31709725 missense probably damaging 1.00
R5541:Gpr22 UTSW 12 31709349 missense probably damaging 0.97
R6218:Gpr22 UTSW 12 31711617 nonsense probably null
R6844:Gpr22 UTSW 12 31709952 missense probably benign
R7448:Gpr22 UTSW 12 31709515 missense probably benign 0.06
R7956:Gpr22 UTSW 12 31709220 missense possibly damaging 0.75
Posted On2015-04-16