Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00568:Cckar'

332644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cckar

Ensembl Gene

ENSMUSG00000029193

Gene Name

cholecystokinin A receptor

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL00568

Quality Score

Status

Chromosome

Chromosomal Location

53855827-53865046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53864643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 19 (E19D)

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: E19D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: E19D

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

Validation Efficiency

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Col12a1	A	G	9: 79,558,759 (GRCm39)	L1902P	probably damaging	Het
Jam2	A	G	16: 84,619,712 (GRCm39)		probably benign	Het
Krt72	T	C	15: 101,689,450 (GRCm39)	D294G	probably damaging	Het
Lancl2	T	C	6: 57,700,470 (GRCm39)		probably benign	Het
Mpz	A	G	1: 170,987,571 (GRCm39)	K236E	possibly damaging	Het
Ndufs4	A	T	13: 114,444,406 (GRCm39)	M124K	probably null	Het
Ovch2	C	A	7: 107,388,297 (GRCm39)	D428Y	probably null	Het
Pcna-ps2	C	A	19: 9,261,290 (GRCm39)	S183*	probably null	Het
Pgbd1	A	C	13: 21,607,423 (GRCm39)	L257*	probably null	Het
Tlr12	G	A	4: 128,511,215 (GRCm39)	T345M	probably benign	Het
Tnrc18	T	C	5: 142,748,792 (GRCm39)	N1300D	unknown	Het

Other mutations in Cckar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Cckar	APN	5	53,857,171 (GRCm39)	missense	possibly damaging	0.86
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
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

Posted On

2015-08-05