Incidental Mutation 'IGL01528:Gpr45'
ID89625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr45
Ensembl Gene ENSMUSG00000041907
Gene NameG protein-coupled receptor 45
SynonymsPSP24alpha, 9230112G11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01528
Quality Score
Status
Chromosome1
Chromosomal Location42952872-43035456 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43033223 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 342 (H342R)
Ref Sequence ENSEMBL: ENSMUSP00000135986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114761] [ENSMUST00000179766]
Predicted Effect probably benign
Transcript: ENSMUST00000114761
AA Change: H342R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110409
Gene: ENSMUSG00000041907
AA Change: H342R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 42 188 5.5e-9 PFAM
Pfam:7TM_GPCR_Srsx 45 340 1.9e-7 PFAM
Pfam:7tm_1 51 325 2.4e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179655
SMART Domains Protein: ENSMUSP00000136725
Gene: ENSMUSG00000096364

DomainStartEndE-ValueType
low complexity region 90 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179766
AA Change: H342R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000135986
Gene: ENSMUSG00000041907
AA Change: H342R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 42 189 7.1e-9 PFAM
Pfam:7TM_GPCR_Srsx 45 340 1.9e-7 PFAM
Pfam:7tm_1 51 325 2.1e-51 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 intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,894 probably benign Het
Cdc45 A G 16: 18,811,561 F2S probably damaging Het
Cdon A G 9: 35,470,107 R598G possibly damaging Het
Dusp22 C T 13: 30,705,628 T64I probably benign Het
Gfer T A 17: 24,695,929 T47S probably benign Het
Gfra2 T C 14: 70,966,298 S296P possibly damaging Het
Gjb2 G A 14: 57,100,668 L28F probably damaging Het
Gm17782 A G 17: 36,161,790 probably benign Het
Gm2832 T C 14: 41,281,713 V167A unknown Het
Gpr155 A G 2: 73,362,423 probably null Het
Gsdmd A T 15: 75,863,505 T33S possibly damaging Het
Hal T A 10: 93,497,593 L341Q probably damaging Het
Igfbp7 T G 5: 77,351,332 D273A probably damaging Het
Kdm2a T C 19: 4,343,055 D424G probably benign Het
Kif13a C T 13: 46,864,837 probably benign Het
Krt35 A T 11: 100,094,594 L207Q probably damaging Het
Lrp1b A T 2: 40,919,182 D2572E probably damaging Het
Lrp2 A G 2: 69,492,460 V1848A probably damaging Het
Myo9a T C 9: 59,779,674 Y21H probably damaging Het
Ncan G T 8: 70,110,081 A509E probably benign Het
Olfr450 T C 6: 42,818,274 S268P probably damaging Het
Pde11a G A 2: 76,194,956 probably benign Het
Phf19 G T 2: 34,897,107 D448E probably damaging Het
Ptprj A T 2: 90,452,144 V799D probably damaging Het
Rpgrip1 T A 14: 52,112,177 Y7* probably null Het
Sema3c A G 5: 17,714,415 H483R probably benign Het
Slc4a11 A G 2: 130,685,408 probably benign Het
St3gal1 C A 15: 67,112,617 R103L probably benign Het
Tet2 A T 3: 133,480,298 V1126E possibly damaging Het
Tmem117 A T 15: 95,094,664 I402L probably benign Het
Tmem2 T C 19: 21,835,545 V1038A possibly damaging Het
Ttc28 T A 5: 111,101,960 probably benign Het
Ttn A T 2: 76,871,838 probably benign Het
Vmn1r7 T A 6: 57,024,547 M243L probably benign Het
Wnt1 G T 15: 98,791,833 W167L probably damaging Het
Zfp553 G T 7: 127,236,215 S314I probably damaging Het
Zranb2 T C 3: 157,544,965 probably benign Het
Other mutations in Gpr45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Gpr45 APN 1 43032292 missense possibly damaging 0.77
IGL01833:Gpr45 APN 1 43032242 missense probably benign
IGL02034:Gpr45 APN 1 43033318 makesense probably null
IGL02230:Gpr45 APN 1 43032656 missense probably damaging 1.00
IGL02279:Gpr45 APN 1 43032838 missense probably damaging 0.96
IGL02394:Gpr45 APN 1 43030112 intron probably benign
IGL02795:Gpr45 APN 1 43032493 missense possibly damaging 0.82
IGL02902:Gpr45 APN 1 43033211 missense possibly damaging 0.67
IGL03017:Gpr45 APN 1 43032356 missense possibly damaging 0.95
expansive UTSW 1 43032838 missense probably damaging 0.96
extensive UTSW 1 43033058 missense probably damaging 1.00
R0368:Gpr45 UTSW 1 43033016 missense probably damaging 1.00
R2964:Gpr45 UTSW 1 43032508 missense possibly damaging 0.87
R2965:Gpr45 UTSW 1 43032508 missense possibly damaging 0.87
R2966:Gpr45 UTSW 1 43032508 missense possibly damaging 0.87
R4551:Gpr45 UTSW 1 43032790 missense probably benign 0.00
R4681:Gpr45 UTSW 1 43032908 missense probably benign 0.00
R4821:Gpr45 UTSW 1 43030453 intron probably benign
R4966:Gpr45 UTSW 1 43033120 missense probably benign 0.00
R5054:Gpr45 UTSW 1 43032649 missense probably benign 0.38
R5319:Gpr45 UTSW 1 43032838 missense probably damaging 0.96
R5667:Gpr45 UTSW 1 43033058 missense probably damaging 1.00
R5671:Gpr45 UTSW 1 43033058 missense probably damaging 1.00
R7250:Gpr45 UTSW 1 43032371 missense probably damaging 1.00
Posted On2013-12-03