Incidental Mutation 'R5940:Gpr153'
ID 529361
Institutional Source Beutler Lab
Gene Symbol Gpr153
Ensembl Gene ENSMUSG00000042804
Gene Name G protein-coupled receptor 153
Synonyms PGR1, 1110065N12Rik
MMRRC Submission 044132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5940 (G1)
Quality Score 59
Status Validated
Chromosome 4
Chromosomal Location 152358689-152369794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 152367832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 561 (P561Q)
Ref Sequence ENSEMBL: ENSMUSP00000101276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055754] [ENSMUST00000094438] [ENSMUST00000105650] [ENSMUST00000105651] [ENSMUST00000218045]
AlphaFold Q8K0Z9
Predicted Effect probably benign
Transcript: ENSMUST00000055754
AA Change: P561Q

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: P561Q

Pfam:7tm_1 24 298 1.2e-14 PFAM
low complexity region 501 518 N/A INTRINSIC
low complexity region 605 617 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094438
SMART Domains Protein: ENSMUSP00000092006
Gene: ENSMUSG00000028946

HLH 1 55 3.83e-11 SMART
low complexity region 129 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105650
AA Change: P538Q

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: P538Q

Pfam:7tm_1 24 297 5.4e-18 PFAM
low complexity region 478 495 N/A INTRINSIC
low complexity region 582 594 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105651
AA Change: P561Q

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: P561Q

Pfam:7tm_1 24 297 5.3e-17 PFAM
low complexity region 501 518 N/A INTRINSIC
low complexity region 605 617 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144035
Predicted Effect probably benign
Transcript: ENSMUST00000218045
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (88/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that belongs to the Class A rhodopsin superfamily of G protein coupled receptors. The encoded protein is expressed primarily in the central nervous system. A knockdown of the orthologous gene in rat is associated with a significant reduction in food intake and impaired decision making ability. Mutations in this gene are associated with schizophrenia, autism, and other neuropsychiatric disorders. The expression of this gene is activated by the glioma-associated oncogene homolog 1 transcription factor which, in turn, is activated by sonic hedgehog in normal and tumorigenic cells. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,645 (GRCm39) Y440C possibly damaging Het
Aasdh G T 5: 77,030,745 (GRCm39) S618R probably benign Het
Alpk1 T G 3: 127,464,595 (GRCm39) T1228P probably benign Het
Ank3 T C 10: 69,756,316 (GRCm39) V850A probably benign Het
Apeh A T 9: 107,969,098 (GRCm39) probably null Het
Ash1l C T 3: 88,891,343 (GRCm39) T1074I probably damaging Het
C3 G A 17: 57,517,244 (GRCm39) S1297F possibly damaging Het
Cchcr1 G A 17: 35,835,890 (GRCm39) R284Q probably damaging Het
Cd93 A T 2: 148,284,152 (GRCm39) I398N probably benign Het
Cdcp3 A T 7: 130,839,992 (GRCm39) D638V probably damaging Het
Chrd G T 16: 20,553,336 (GRCm39) R226L probably null Het
Clvs1 A T 4: 9,449,443 (GRCm39) N344I possibly damaging Het
Cyp4v3 A T 8: 45,774,821 (GRCm39) I111N probably damaging Het
Cysltr2 T A 14: 73,267,389 (GRCm39) Y107F probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Czib A G 4: 107,750,485 (GRCm39) probably benign Het
Defb47 A T 14: 63,238,359 (GRCm39) E28D probably benign Het
Dnajc30 T A 5: 135,093,413 (GRCm39) Y103* probably null Het
Drap1 T C 19: 5,473,028 (GRCm39) T160A probably benign Het
Dsp A G 13: 38,380,002 (GRCm39) E2249G possibly damaging Het
E2f8 T A 7: 48,520,825 (GRCm39) I499F probably benign Het
Ebf1 T A 11: 44,512,048 (GRCm39) Y116N probably damaging Het
Ecrg4 C T 1: 43,776,401 (GRCm39) R41* probably null Het
Ect2 C A 3: 27,169,614 (GRCm39) E746D probably benign Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Fat4 T C 3: 38,943,798 (GRCm39) V897A probably benign Het
Gja3 T A 14: 57,273,317 (GRCm39) S352C probably damaging Het
Hlcs T C 16: 93,935,571 (GRCm39) M574V probably damaging Het
Hmcn1 A G 1: 150,532,973 (GRCm39) V3070A probably benign Het
Hsd3b2 G T 3: 98,619,287 (GRCm39) N219K probably benign Het
Htra3 T C 5: 35,810,324 (GRCm39) I453V possibly damaging Het
Klrc1 A T 6: 129,651,898 (GRCm39) M220K possibly damaging Het
Kntc1 T G 5: 123,924,258 (GRCm39) I1048S probably benign Het
Lrrc37 T C 11: 103,504,712 (GRCm39) S243G probably benign Het
Macf1 T A 4: 123,326,674 (GRCm39) D2822V probably damaging Het
Mcu T A 10: 59,292,554 (GRCm39) I42F possibly damaging Het
Mkln1 T A 6: 31,466,307 (GRCm39) D521E probably damaging Het
Ms4a13 T C 19: 11,170,330 (GRCm39) N5D possibly damaging Het
Msh3 T G 13: 92,386,351 (GRCm39) N838T probably damaging Het
Msl2 T A 9: 100,978,290 (GRCm39) C221* probably null Het
Ncapd2 A G 6: 125,145,832 (GRCm39) S1310P probably benign Het
Ncoa6 A T 2: 155,257,785 (GRCm39) M586K probably damaging Het
Ndel1 C T 11: 68,713,397 (GRCm39) probably benign Het
Ndst4 T C 3: 125,355,068 (GRCm39) probably benign Het
Nes T G 3: 87,883,259 (GRCm39) V506G probably damaging Het
Nrg1 T C 8: 32,339,372 (GRCm39) K200E probably damaging Het
Nt5c1b A G 12: 10,425,515 (GRCm39) K295E probably damaging Het
Or4f54 G A 2: 111,122,729 (GRCm39) V39M possibly damaging Het
Or5b123 T A 19: 13,596,517 (GRCm39) probably null Het
Or6s1 T A 14: 51,308,179 (GRCm39) I224L probably damaging Het
Or8b4 C T 9: 37,830,733 (GRCm39) T260I probably damaging Het
Or8g51 G T 9: 38,609,007 (GRCm39) Y218* probably null Het
Or8k38 A T 2: 86,488,394 (GRCm39) M136K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde1a A G 2: 79,718,183 (GRCm39) probably null Het
Pds5a A G 5: 65,801,328 (GRCm39) probably benign Het
Plbd1 A T 6: 136,590,719 (GRCm39) probably benign Het
Plod2 T A 9: 92,473,450 (GRCm39) V292E probably benign Het
Polg A G 7: 79,103,819 (GRCm39) V879A possibly damaging Het
Ppargc1a C T 5: 51,631,253 (GRCm39) A459T probably damaging Het
Prorp T A 12: 55,351,659 (GRCm39) W323R probably damaging Het
Psip1 T C 4: 83,394,559 (GRCm39) E83G probably damaging Het
Rhbdf1 T C 11: 32,159,847 (GRCm39) D843G probably benign Het
Rnpepl1 G T 1: 92,845,434 (GRCm39) C451F probably damaging Het
Rrp1 T C 10: 78,241,249 (GRCm39) D206G probably damaging Het
Setbp1 A T 18: 78,798,703 (GRCm39) D1492E probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc16a6 C T 11: 109,364,022 (GRCm39) probably benign Homo
Slc7a6os A G 8: 106,937,437 (GRCm39) S37P probably damaging Het
Tenm4 T A 7: 96,495,102 (GRCm39) S1140T probably damaging Het
Thoc6 C A 17: 23,889,315 (GRCm39) R115L probably benign Het
Tmem63c C T 12: 87,121,946 (GRCm39) H385Y probably benign Het
Trpm8 G T 1: 88,279,137 (GRCm39) E649* probably null Het
Usf1 A G 1: 171,245,347 (GRCm39) E253G possibly damaging Het
Vps13d T C 4: 144,801,545 (GRCm39) T443A probably benign Het
Wdr86 T C 5: 24,927,660 (GRCm39) Y93C probably damaging Het
Zfp597 A T 16: 3,683,685 (GRCm39) I357N probably damaging Het
Zfp709 A G 8: 72,644,064 (GRCm39) I497V possibly damaging Het
Zxdc T C 6: 90,347,307 (GRCm39) S223P probably damaging Het
Other mutations in Gpr153
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Gpr153 APN 4 152,366,423 (GRCm39) unclassified probably benign
IGL01368:Gpr153 APN 4 152,367,451 (GRCm39) missense probably benign 0.40
IGL01568:Gpr153 APN 4 152,366,825 (GRCm39) splice site probably null
IGL01672:Gpr153 APN 4 152,364,370 (GRCm39) nonsense probably null
R0735:Gpr153 UTSW 4 152,363,830 (GRCm39) nonsense probably null
R0925:Gpr153 UTSW 4 152,366,331 (GRCm39) missense probably benign
R1302:Gpr153 UTSW 4 152,364,400 (GRCm39) missense probably damaging 1.00
R1829:Gpr153 UTSW 4 152,366,849 (GRCm39) missense possibly damaging 0.70
R2041:Gpr153 UTSW 4 152,367,810 (GRCm39) missense probably benign
R4698:Gpr153 UTSW 4 152,366,240 (GRCm39) missense probably damaging 1.00
R5069:Gpr153 UTSW 4 152,364,340 (GRCm39) missense probably damaging 0.99
R5623:Gpr153 UTSW 4 152,366,398 (GRCm39) missense possibly damaging 0.89
R5800:Gpr153 UTSW 4 152,364,534 (GRCm39) nonsense probably null
R6773:Gpr153 UTSW 4 152,363,757 (GRCm39) missense probably damaging 1.00
R6944:Gpr153 UTSW 4 152,363,820 (GRCm39) missense probably damaging 1.00
R7486:Gpr153 UTSW 4 152,366,858 (GRCm39) missense probably benign 0.01
R8170:Gpr153 UTSW 4 152,364,634 (GRCm39) missense probably damaging 1.00
R8699:Gpr153 UTSW 4 152,363,558 (GRCm39) start gained probably benign
R8701:Gpr153 UTSW 4 152,363,558 (GRCm39) start gained probably benign
R8732:Gpr153 UTSW 4 152,363,558 (GRCm39) start gained probably benign
R9047:Gpr153 UTSW 4 152,364,664 (GRCm39) missense probably damaging 1.00
R9383:Gpr153 UTSW 4 152,367,516 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-07-31