Incidental Mutation 'IGL02307:Gpr22'
ID287627
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 #IGL02307
Quality Score
Status
Chromosome12
Chromosomal Location31706867-31713947 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 31708740 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 461 (C461F)
Ref Sequence ENSEMBL: ENSMUSP00000056125 (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 possibly damaging
Transcript: ENSMUST00000057783
AA Change: C461F

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056125
Gene: ENSMUSG00000044067
AA Change: C461F

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 possibly damaging
Transcript: ENSMUST00000176710
AA Change: C424F

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134839
Gene: ENSMUSG00000044067
AA Change: C424F

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,141,746 D323G probably damaging Het
Ankrd28 A G 14: 31,733,708 C417R probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Bdp1 C A 13: 100,093,438 G256V probably damaging Het
Cald1 A G 6: 34,753,455 K252E probably damaging Het
Ccdc141 T C 2: 77,029,342 E985G probably damaging Het
Ccdc144b T C 3: 36,018,867 K422R possibly damaging Het
Cdc23 A G 18: 34,641,389 I279T possibly damaging Het
Col16a1 C T 4: 130,059,009 P416L probably damaging Het
Coro1a T C 7: 126,701,564 D197G probably damaging Het
Ctnnd2 C T 15: 30,647,211 T351I possibly damaging Het
Fam76b A G 9: 13,844,036 N313S probably damaging Het
Fbxw20 C A 9: 109,233,533 W75L possibly damaging Het
Gjd2 T C 2: 114,011,913 T28A possibly damaging Het
Glyctk A C 9: 106,155,764 L350R possibly damaging Het
Gm10260 G T 13: 97,760,363 Q76K probably benign Het
Gm20726 A T 14: 54,632,603 V237D probably damaging Het
Grhl2 A G 15: 37,288,288 T279A probably damaging Het
Gstm3 G A 3: 107,967,613 R108C probably damaging Het
Haus6 T C 4: 86,583,835 T600A possibly damaging Het
Htra4 G A 8: 25,033,694 A285V probably damaging Het
Igkv14-100 C T 6: 68,519,365 P81S probably damaging Het
Kif24 T G 4: 41,395,274 Q533P probably benign Het
Klhl1 A T 14: 96,201,373 N496K possibly damaging Het
Lama3 G T 18: 12,581,783 R1667L probably benign Het
Lct T A 1: 128,286,590 H1815L possibly damaging Het
Mrgprb2 T A 7: 48,552,896 Y27F probably benign Het
Mrpl15 A T 1: 4,783,953 H86Q possibly damaging Het
Myo10 C T 15: 25,776,315 probably benign Het
Nrp1 T C 8: 128,502,720 L893P probably damaging Het
Olfr570 A T 7: 102,900,879 N171Y probably benign Het
Olfr733 A C 14: 50,298,838 I157S probably damaging Het
Ovol1 T A 19: 5,553,615 D86V possibly damaging Het
Pacs2 T A 12: 113,070,773 M851K probably damaging Het
Pde1a A T 2: 79,906,068 M39K possibly damaging Het
Pdpn T C 4: 143,273,980 H94R possibly damaging Het
Plcg2 T A 8: 117,579,896 probably null Het
Pzp A T 6: 128,489,086 Y1210* probably null Het
Rnf148 G T 6: 23,654,891 S35R probably benign Het
Ros1 A T 10: 52,128,438 S1008T possibly damaging Het
Sis A T 3: 72,911,834 probably benign Het
Spag9 T A 11: 94,102,160 probably null Het
Srbd1 A G 17: 86,126,188 L327P probably damaging Het
Steap3 A T 1: 120,241,660 Y264* probably null Het
Swap70 A G 7: 110,281,294 E572G probably benign Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Trmt11 T C 10: 30,594,154 D58G possibly damaging Het
Tsc22d1 T C 14: 76,416,461 S127P probably damaging Het
Usf1 T A 1: 171,415,746 S30R probably damaging Het
Ush1c A G 7: 46,197,188 probably benign Het
Utrn A T 10: 12,750,065 L124* probably null Het
Vmn2r75 T C 7: 86,165,766 N173S probably benign Het
Zic2 T C 14: 122,476,634 V320A possibly damaging Het
Other mutations in Gpr22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Gpr22 APN 12 31708710 unclassified probably benign
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
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