Incidental Mutation 'R4290:Cckar'
ID 322994
Institutional Source Beutler Lab
Gene Symbol Cckar
Ensembl Gene ENSMUSG00000029193
Gene Name cholecystokinin A receptor
Synonyms
MMRRC Submission 041655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R4290 (G1)
Quality Score 223
Status Validated
Chromosome 5
Chromosomal Location 53855827-53865046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53863839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 41 (S41P)
Ref Sequence ENSEMBL: ENSMUSP00000031093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031093] [ENSMUST00000200691]
AlphaFold O08786
Predicted Effect probably benign
Transcript: ENSMUST00000031093
AA Change: S41P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: S41P

DomainStartEndE-ValueType
Pfam:CholecysA-Rec_N 1 47 8.8e-29 PFAM
Pfam:7tm_4 48 252 7.2e-12 PFAM
Pfam:7TM_GPCR_Srsx 52 393 2.6e-10 PFAM
Pfam:7tm_1 58 378 1.1e-66 PFAM
low complexity region 399 416 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200691
SMART Domains Protein: ENSMUSP00000144103
Gene: ENSMUSG00000029193

DomainStartEndE-ValueType
Pfam:7tm_1 1 307 1.6e-59 PFAM
Pfam:7tm_4 3 181 1.8e-6 PFAM
low complexity region 328 345 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202946
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice cannot regulate core body temperature in response to changes in ambient temperature. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,539,738 (GRCm39) N1545S probably benign Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Auts2 A G 5: 131,503,809 (GRCm39) S225P probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cfap221 A G 1: 119,858,650 (GRCm39) S728P probably benign Het
Chrna9 A G 5: 66,134,481 (GRCm39) K444R probably benign Het
Cox10 A T 11: 63,855,081 (GRCm39) V400E probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Ddr2 A G 1: 169,818,178 (GRCm39) V443A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
En1 C A 1: 120,531,486 (GRCm39) A242E unknown Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Hepacam2 T A 6: 3,487,237 (GRCm39) Y40F probably benign Het
Ift80 A G 3: 68,871,023 (GRCm39) I191T probably damaging Het
Il19 T A 1: 130,862,750 (GRCm39) T58S possibly damaging Het
Itga2 G A 13: 115,002,709 (GRCm39) R594C probably damaging Het
Itga5 C T 15: 103,260,684 (GRCm39) probably null Het
Kcna1 T C 6: 126,618,838 (GRCm39) D494G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kmt2b A T 7: 30,281,261 (GRCm39) probably null Het
Kmt5b T C 19: 3,852,193 (GRCm39) Y125H possibly damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Man1c1 T A 4: 134,291,096 (GRCm39) D600V probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mettl5 T C 2: 69,711,176 (GRCm39) N114S probably benign Het
Mindy2 T A 9: 70,538,376 (GRCm39) R320W probably damaging Het
Nrip1 A G 16: 76,088,876 (GRCm39) S894P probably benign Het
Nup210l A T 3: 90,114,633 (GRCm39) H1736L probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2aj4 A T 16: 19,384,994 (GRCm39) M213K possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or2z9 A G 8: 72,853,612 (GRCm39) T3A probably benign Het
Or4e1 T C 14: 52,701,442 (GRCm39) N8S probably damaging Het
Or6b6 A C 7: 106,570,918 (GRCm39) L211R probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Ppp4c A G 7: 126,391,231 (GRCm39) probably null Het
Rps15a-ps1 A G 10: 106,028,496 (GRCm39) noncoding transcript Het
Rps27a A G 11: 29,495,933 (GRCm39) Y140H probably benign Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Ttc19 A G 11: 62,176,753 (GRCm39) probably null Het
Ttf2 T C 3: 100,870,077 (GRCm39) D332G probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vcan A G 13: 89,873,605 (GRCm39) V83A probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfa-ps A T 10: 52,419,807 (GRCm39) noncoding transcript Het
Other mutations in Cckar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Cckar APN 5 53,857,171 (GRCm39) missense possibly damaging 0.86
IGL00568:Cckar APN 5 53,864,643 (GRCm39) missense probably benign 0.02
IGL00766:Cckar APN 5 53,857,378 (GRCm39) missense probably damaging 0.99
IGL00960:Cckar APN 5 53,858,634 (GRCm39) missense probably damaging 1.00
IGL02424:Cckar APN 5 53,863,770 (GRCm39) missense possibly damaging 0.63
IGL03002:Cckar APN 5 53,860,247 (GRCm39) missense probably damaging 0.99
R0167:Cckar UTSW 5 53,863,795 (GRCm39) missense probably damaging 1.00
R0302:Cckar UTSW 5 53,857,641 (GRCm39) frame shift probably null
R0366:Cckar UTSW 5 53,857,507 (GRCm39) missense probably benign 0.01
R0391:Cckar UTSW 5 53,863,595 (GRCm39) critical splice donor site probably null
R0981:Cckar UTSW 5 53,863,632 (GRCm39) missense probably damaging 1.00
R1619:Cckar UTSW 5 53,857,409 (GRCm39) missense probably damaging 1.00
R1644:Cckar UTSW 5 53,857,215 (GRCm39) missense probably benign
R1779:Cckar UTSW 5 53,857,321 (GRCm39) missense probably damaging 1.00
R2184:Cckar UTSW 5 53,860,254 (GRCm39) missense probably damaging 0.96
R4291:Cckar UTSW 5 53,863,839 (GRCm39) missense probably benign
R4292:Cckar UTSW 5 53,863,839 (GRCm39) missense probably benign
R4294:Cckar UTSW 5 53,863,839 (GRCm39) missense probably benign
R4518:Cckar UTSW 5 53,857,264 (GRCm39) missense probably damaging 1.00
R4583:Cckar UTSW 5 53,857,124 (GRCm39) missense probably benign 0.01
R5139:Cckar UTSW 5 53,860,265 (GRCm39) missense probably benign 0.00
R5505:Cckar UTSW 5 53,860,410 (GRCm39) missense probably damaging 1.00
R6207:Cckar UTSW 5 53,857,186 (GRCm39) missense probably benign
R6415:Cckar UTSW 5 53,860,398 (GRCm39) missense probably damaging 1.00
R7127:Cckar UTSW 5 53,863,817 (GRCm39) missense probably damaging 1.00
R7372:Cckar UTSW 5 53,864,624 (GRCm39) missense probably damaging 0.99
R7966:Cckar UTSW 5 53,858,580 (GRCm39) missense possibly damaging 0.65
R8790:Cckar UTSW 5 53,857,291 (GRCm39) missense probably damaging 1.00
R8897:Cckar UTSW 5 53,864,583 (GRCm39) start gained probably benign
R9010:Cckar UTSW 5 53,857,163 (GRCm39) missense probably damaging 1.00
R9054:Cckar UTSW 5 53,860,424 (GRCm39) missense probably damaging 1.00
R9205:Cckar UTSW 5 53,864,587 (GRCm39) critical splice donor site probably null
R9396:Cckar UTSW 5 53,864,623 (GRCm39) missense probably damaging 1.00
R9646:Cckar UTSW 5 53,863,608 (GRCm39) missense probably benign 0.01
R9656:Cckar UTSW 5 53,857,318 (GRCm39) missense probably damaging 0.99
R9709:Cckar UTSW 5 53,860,201 (GRCm39) critical splice donor site probably null
X0028:Cckar UTSW 5 53,864,616 (GRCm39) missense probably benign 0.01
X0028:Cckar UTSW 5 53,864,615 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- ATGAGGTTGAACGGCATGC -3'
(R):5'- ACTGCTTTCCTGACGGATCC -3'

Sequencing Primer
(F):5'- GTTGAACGGCATGCAGAAG -3'
(R):5'- TCCTGACGGATCCCATTAACATC -3'
Posted On 2015-06-20