Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00422:Cckar'

6431

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cckar

Ensembl Gene

ENSMUSG00000029193

Gene Name

cholecystokinin A receptor

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

53697776-53707705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53699829 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 342 (D342V)

Ref Sequence

ENSEMBL: ENSMUSP00000144103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031093] [ENSMUST00000200691]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031093
AA Change: D413V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: D413V

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

possibly damaging
Transcript: ENSMUST00000200691
AA Change: D342V

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144103
Gene: ENSMUSG00000029193
AA Change: D342V

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,068,186	A359T	probably damaging	Het
Ajuba	A	T	14: 54,571,769	Y400*	probably null	Het
Cdc123	A	G	2: 5,798,449	V253A	probably benign	Het
Cep162	T	C	9: 87,227,167	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106	E2399K	probably damaging	Het
Cln8	G	A	8: 14,896,637	C217Y	probably benign	Het
Dchs1	A	G	7: 105,758,029	V2119A	possibly damaging	Het
Dhx33	T	C	11: 71,001,620	S108G	probably benign	Het
Dip2a	T	A	10: 76,313,236	M194L	probably benign	Het
Dnah11	T	C	12: 118,068,096	K1779R	probably damaging	Het
Fads3	T	G	19: 10,055,681	F328V	possibly damaging	Het
Flad1	A	G	3: 89,405,853		probably null	Het
Gm5346	A	G	8: 43,626,351	F279L	probably damaging	Het
Gm7535	G	T	17: 17,911,888		probably benign	Het
Gnpat	A	G	8: 124,885,013	E513G	probably damaging	Het
H2-M5	A	G	17: 36,987,840	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,675,427	R114Q	probably damaging	Het
Ide	T	C	19: 37,276,532	I903V	unknown	Het
Ifi209	T	G	1: 173,638,963	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,668,469	D248G	probably damaging	Het
Mat2b	C	A	11: 40,687,738	G41C	probably damaging	Het
Mfsd4a	T	C	1: 132,040,594	I369V	probably benign	Het
Myom1	T	A	17: 71,126,098	V1480E	probably damaging	Het
Myom2	A	T	8: 15,069,490	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,669,066	V422E	probably damaging	Het
Pkn3	G	A	2: 30,081,104	A228T	probably damaging	Het
Rad17	A	T	13: 100,629,525	I365K	probably benign	Het
Rad17	A	T	13: 100,629,523	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,161,017	C15G	probably benign	Het
Spag9	T	A	11: 94,097,866	F571I	probably benign	Het
Ttc27	T	A	17: 74,780,816	C459S	probably damaging	Het
Washc2	A	G	6: 116,256,676	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318	H490L	possibly damaging	Het

Other mutations in Cckar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Cckar	APN	5	53707301	missense	probably benign	0.02
IGL00766:Cckar	APN	5	53700036	missense	probably damaging	0.99
IGL00960:Cckar	APN	5	53701292	missense	probably damaging	1.00
IGL02424:Cckar	APN	5	53706428	missense	possibly damaging	0.63
IGL03002:Cckar	APN	5	53702905	missense	probably damaging	0.99
R0167:Cckar	UTSW	5	53706453	missense	probably damaging	1.00
R0302:Cckar	UTSW	5	53700299	frame shift	probably null
R0366:Cckar	UTSW	5	53700165	missense	probably benign	0.01
R0391:Cckar	UTSW	5	53706253	critical splice donor site	probably null
R0981:Cckar	UTSW	5	53706290	missense	probably damaging	1.00
R1619:Cckar	UTSW	5	53700067	missense	probably damaging	1.00
R1644:Cckar	UTSW	5	53699873	missense	probably benign
R1779:Cckar	UTSW	5	53699979	missense	probably damaging	1.00
R2184:Cckar	UTSW	5	53702912	missense	probably damaging	0.96
R4290:Cckar	UTSW	5	53706497	missense	probably benign
R4291:Cckar	UTSW	5	53706497	missense	probably benign
R4292:Cckar	UTSW	5	53706497	missense	probably benign
R4294:Cckar	UTSW	5	53706497	missense	probably benign
R4518:Cckar	UTSW	5	53699922	missense	probably damaging	1.00
R4583:Cckar	UTSW	5	53699782	missense	probably benign	0.01
R5139:Cckar	UTSW	5	53702923	missense	probably benign	0.00
R5505:Cckar	UTSW	5	53703068	missense	probably damaging	1.00
R6207:Cckar	UTSW	5	53699844	missense	probably benign
R6415:Cckar	UTSW	5	53703056	missense	probably damaging	1.00
R7127:Cckar	UTSW	5	53706475	missense	probably damaging	1.00
R7372:Cckar	UTSW	5	53707282	missense	probably damaging	0.99
R7966:Cckar	UTSW	5	53701238	missense	possibly damaging	0.65
X0028:Cckar	UTSW	5	53707273	missense	probably benign	0.22
X0028:Cckar	UTSW	5	53707274	missense	probably benign	0.01

Posted On

2012-04-20