Incidental Mutation 'IGL01630:Cckbr'
ID92915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cckbr
Ensembl Gene ENSMUSG00000030898
Gene Namecholecystokinin B receptor
SynonymsCCK2/gastrin, CCK2R, CCKR-2, CCK-B/gastrin receptor
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL01630
Quality Score
Status
Chromosome7
Chromosomal Location105425731-105470898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 105434086 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Cysteine at position 165 (W165C)
Ref Sequence ENSEMBL: ENSMUSP00000138052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033189] [ENSMUST00000181339]
Predicted Effect probably damaging
Transcript: ENSMUST00000033189
AA Change: W165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033189
Gene: ENSMUSG00000030898
AA Change: W165C

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 27 38 N/A INTRINSIC
Pfam:7tm_1 71 396 4.1e-59 PFAM
low complexity region 409 434 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000181339
AA Change: W165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138052
Gene: ENSMUSG00000030898
AA Change: W165C

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 27 38 N/A INTRINSIC
Pfam:7tm_1 71 301 3.3e-49 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a multipass transmembrane receptor protein expressed in the central nervous system and gastrointestinal tract. Cholecystokinin and gastrin bind to the encoded protein to stimulate gastric acid secretion and mucosal growth in the gastrointestinal tract, and anxiety, pain sensation and memory in the brain. Mice lacking the encoded protein exhibit an increase in the basal gastric pH and gastrin levels in the bloodstream as well as mild hypocalcemia, secondary hyperparathyroidism and increased bone resorption. [provided by RefSeq, Apr 2015]
PHENOTYPE: Nullizygous mice show gastic mucoca defects, high gastic pH and hypergastrenemia. Homozygotes for a null allele also exhibit higher energy intake and expenditure, less susceptibility to endotoxin shock, altered pain and mechanical sensitivity, and behavioral changes to isolation and addictive drugs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,161,855 T207A possibly damaging Het
Ak8 T A 2: 28,712,279 M75K probably benign Het
Aldh1a7 A T 19: 20,696,329 probably benign Het
Ankrd34c G A 9: 89,729,826 T154I probably damaging Het
Arrb2 A G 11: 70,436,871 I120M probably damaging Het
Atp2a1 A G 7: 126,450,265 V535A probably benign Het
Col12a1 A T 9: 79,657,366 H1677Q probably damaging Het
Fancd2 T C 6: 113,563,124 F658S probably damaging Het
Gm5581 A T 6: 131,168,296 noncoding transcript Het
H2-M3 A G 17: 37,270,657 E70G possibly damaging Het
Hltf A G 3: 20,082,904 probably benign Het
Ighv1-24 C A 12: 114,773,053 V76F probably benign Het
Igkv1-110 A T 6: 68,271,161 R85W probably damaging Het
Kif9 A C 9: 110,485,070 R43S probably benign Het
Klf11 T C 12: 24,660,369 I472T probably benign Het
Napsa A G 7: 44,586,665 Y376C probably damaging Het
Notch2 C T 3: 98,146,618 A2199V possibly damaging Het
Olfr390 A G 11: 73,787,861 K308E probably benign Het
Olfr713 A T 7: 107,037,111 probably benign Het
Pcnt T A 10: 76,420,246 D720V probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptk6 T C 2: 181,197,066 E298G probably damaging Het
Rbm27 T A 18: 42,301,840 L323H probably damaging Het
Sall3 A G 18: 80,971,269 L1076P probably benign Het
Sprr2h A G 3: 92,386,951 N35S unknown Het
Susd1 T C 4: 59,365,817 D412G possibly damaging Het
Ugdh T A 5: 65,416,905 M432L probably benign Het
Uggt2 C T 14: 119,042,772 V765I probably benign Het
Unc13d T C 11: 116,073,866 Q258R probably benign Het
Wdfy3 A T 5: 101,907,488 F1572Y probably benign Het
Xpo1 A G 11: 23,285,846 T645A probably benign Het
Zer1 A G 2: 30,101,831 V659A probably damaging Het
Other mutations in Cckbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Cckbr APN 7 105434242 missense probably benign 0.01
IGL01931:Cckbr APN 7 105426103 missense probably benign
IGL01955:Cckbr APN 7 105434962 missense probably damaging 0.97
IGL02219:Cckbr APN 7 105434048 missense probably damaging 1.00
IGL02820:Cckbr APN 7 105434031 missense probably damaging 1.00
IGL02858:Cckbr APN 7 105434031 missense probably damaging 1.00
IGL02878:Cckbr APN 7 105434031 missense probably damaging 1.00
IGL02946:Cckbr APN 7 105434031 missense probably damaging 1.00
IGL03179:Cckbr APN 7 105434923 missense probably benign 0.02
FR4548:Cckbr UTSW 7 105434681 small deletion probably benign
R0380:Cckbr UTSW 7 105434991 missense probably benign 0.00
R1767:Cckbr UTSW 7 105434551 missense possibly damaging 0.56
R3890:Cckbr UTSW 7 105426169 missense probably benign 0.00
R3892:Cckbr UTSW 7 105426169 missense probably benign 0.00
R5116:Cckbr UTSW 7 105433655 missense probably damaging 1.00
R5589:Cckbr UTSW 7 105434525 missense probably damaging 0.98
R5975:Cckbr UTSW 7 105470619 missense probably benign 0.07
R6797:Cckbr UTSW 7 105434566 missense possibly damaging 0.85
R6940:Cckbr UTSW 7 105434896 missense probably benign 0.00
R7194:Cckbr UTSW 7 105435345 missense possibly damaging 0.72
R7293:Cckbr UTSW 7 105434645 missense probably benign 0.05
R7581:Cckbr UTSW 7 105433786 missense probably benign 0.05
R7793:Cckbr UTSW 7 105433591 missense probably benign 0.00
R7891:Cckbr UTSW 7 105435350 missense probably benign 0.00
R7974:Cckbr UTSW 7 105435350 missense probably benign 0.00
RF009:Cckbr UTSW 7 105434686 frame shift probably null
RF039:Cckbr UTSW 7 105434686 frame shift probably null
RF062:Cckbr UTSW 7 105434687 frame shift probably null
Posted On2013-12-09