Incidental Mutation 'R7372:Cckar'
ID 572149
Institutional Source Beutler Lab
Gene Symbol Cckar
Ensembl Gene ENSMUSG00000029193
Gene Name cholecystokinin A receptor
Synonyms
MMRRC Submission 045455-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R7372 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 53855827-53865046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53864624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 26 (T26A)
Ref Sequence ENSEMBL: ENSMUSP00000031093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031093] [ENSMUST00000200691]
AlphaFold O08786
Predicted Effect probably damaging
Transcript: ENSMUST00000031093
AA Change: T26A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: T26A

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
Meta Mutation Damage Score 0.0953 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 G A 1: 156,450,189 (GRCm39) V119M probably damaging Het
Acss2 T C 2: 155,399,100 (GRCm39) V454A probably damaging Het
Adam6b T A 12: 113,453,784 (GRCm39) D200E probably benign Het
Adarb1 T A 10: 77,131,712 (GRCm39) probably null Het
Aqp12 C T 1: 92,934,088 (GRCm39) probably benign Het
Atrnl1 T C 19: 57,924,078 (GRCm39) V1281A possibly damaging Het
Brdt A G 5: 107,518,160 (GRCm39) E761G possibly damaging Het
Bsn A T 9: 107,987,718 (GRCm39) I2678N unknown Het
C2cd2 A T 16: 97,676,580 (GRCm39) C136S Het
Camk4 A G 18: 33,318,178 (GRCm39) D445G probably benign Het
Cd209a T A 8: 3,798,857 (GRCm39) probably null Het
Cept1 A G 3: 106,411,056 (GRCm39) F379S probably benign Het
Crhr1 A G 11: 104,054,719 (GRCm39) probably null Het
Cryzl1 T C 16: 91,509,085 (GRCm39) E72G probably benign Het
Ctnnal1 T A 4: 56,826,285 (GRCm39) E526V possibly damaging Het
Cyp3a41a T C 5: 145,650,374 (GRCm39) I90V possibly damaging Het
Dek T C 13: 47,259,053 (GRCm39) E51G unknown Het
Dnaaf6rt A T 1: 31,262,432 (GRCm39) D138V probably damaging Het
Evc2 T A 5: 37,544,477 (GRCm39) V742E probably damaging Het
Fat4 G A 3: 38,944,358 (GRCm39) V1084M probably damaging Het
Fscb G A 12: 64,518,598 (GRCm39) T956I unknown Het
Glipr2 T C 4: 43,968,184 (GRCm39) L29P probably damaging Het
Gm19402 A T 10: 77,526,261 (GRCm39) S111T unknown Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gnl3 T C 14: 30,738,843 (GRCm39) K115E probably benign Het
Gpn1 T A 5: 31,658,465 (GRCm39) F147I probably damaging Het
Gsdmd T A 15: 75,737,618 (GRCm39) L232H probably benign Het
Helz2 A G 2: 180,880,216 (GRCm39) V500A possibly damaging Het
Hemk1 T C 9: 107,214,267 (GRCm39) E55G probably benign Het
Hs2st1 A T 3: 144,141,221 (GRCm39) probably null Het
Ighv1-63 A G 12: 115,459,486 (GRCm39) V37A probably damaging Het
Iqsec3 C A 6: 121,360,991 (GRCm39) E956* probably null Het
Kcnh8 T A 17: 53,201,129 (GRCm39) I521K probably damaging Het
Kif3c T A 12: 3,437,592 (GRCm39) M531K probably benign Het
Kif5c T A 2: 49,648,671 (GRCm39) probably null Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lcor T C 19: 41,573,945 (GRCm39) L900P probably damaging Het
Lrrc32 A G 7: 98,149,014 (GRCm39) D598G probably benign Het
Mug2 T C 6: 122,060,425 (GRCm39) V1387A possibly damaging Het
Nin T A 12: 70,102,803 (GRCm39) E275V Het
Or5p68 A G 7: 107,945,703 (GRCm39) F162L probably benign Het
Papolg A G 11: 23,816,439 (GRCm39) I698T probably benign Het
Pcdhb20 A G 18: 37,639,840 (GRCm39) N789D probably benign Het
Pik3cg C T 12: 32,247,196 (GRCm39) M842I probably damaging Het
Pnn T A 12: 59,115,765 (GRCm39) D135E probably damaging Het
Pold1 C A 7: 44,192,847 (GRCm39) R5L possibly damaging Het
Prl8a1 A T 13: 27,758,089 (GRCm39) F207I probably damaging Het
Prr11 A G 11: 86,989,600 (GRCm39) V257A probably benign Het
Prtg C T 9: 72,758,848 (GRCm39) R401* probably null Het
Rasgrp1 A G 2: 117,115,635 (GRCm39) M651T probably benign Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Snx13 A T 12: 35,128,950 (GRCm39) I23L probably benign Het
Snx7 A G 3: 117,576,000 (GRCm39) L429P probably damaging Het
Spta1 C T 1: 174,025,201 (GRCm39) Q689* probably null Het
Spty2d1 T C 7: 46,648,692 (GRCm39) D79G probably damaging Het
Tbc1d9b A G 11: 50,059,515 (GRCm39) probably null Het
Tnxb T C 17: 34,936,228 (GRCm39) F2722L possibly damaging Het
Tppp2 C T 14: 52,156,865 (GRCm39) R81C probably benign Het
Trim6 G T 7: 103,881,843 (GRCm39) A391S probably benign Het
Trim69 A C 2: 122,009,064 (GRCm39) T375P possibly damaging Het
Trim72 A G 7: 127,603,858 (GRCm39) N68S possibly damaging Het
Trrap G A 5: 144,726,208 (GRCm39) V386I probably benign Het
Ttn T C 2: 76,778,275 (GRCm39) I1371V unknown Het
Usp17lb A T 7: 104,490,913 (GRCm39) probably null Het
Vmn2r20 A T 6: 123,362,468 (GRCm39) L772Q probably damaging Het
Ypel3 A G 7: 126,379,200 (GRCm39) E91G probably benign Het
Zbtb21 C T 16: 97,751,569 (GRCm39) E905K possibly damaging Het
Zfp189 T A 4: 49,530,417 (GRCm39) C507S possibly damaging 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
R4290:Cckar UTSW 5 53,863,839 (GRCm39) missense probably benign
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
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'- TTGTCTCACGGGGACTTTGC -3'
(R):5'- TTTAGGAATGGCTGCAGAGC -3'

Sequencing Primer
(F):5'- ACTTTGCGCGCGTGTACAC -3'
(R):5'- GAGCCCACACCTGGATCTCTC -3'
Posted On 2019-09-13