Mutagenetix > Incidental Mutations

Incidental Mutation 'R5505:Cckar'

430877

Institutional Source

Beutler Lab

Gene Symbol

Cckar

Ensembl Gene

ENSMUSG00000029193

Gene Name

cholecystokinin A receptor

Synonyms

MMRRC Submission

043066-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53697776-53707705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53703068 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 140 (Y140H)

Ref Sequence

ENSEMBL: ENSMUSP00000031093 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031093
AA Change: Y140H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: Y140H

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 damaging
Transcript: ENSMUST00000200691
AA Change: Y69H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144103
Gene: ENSMUSG00000029193
AA Change: Y69H

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

Meta Mutation Damage Score

0.6041

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.9%

Validation Efficiency

98% (47/48)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	A	5: 24,401,038	D240E	probably damaging	Het
Alpk3	G	A	7: 81,078,561	E480K	possibly damaging	Het
Arhgap20	A	G	9: 51,838,948	E372G	probably damaging	Het
Atp23	G	T	10: 126,887,630	A201D	probably damaging	Het
Bpifb1	A	G	2: 154,204,779	D73G	probably benign	Het
Ccdc7a	A	G	8: 128,980,174	S325P	possibly damaging	Het
Cd46	A	T	1: 195,085,380	D124E	possibly damaging	Het
Cep290	T	C	10: 100,499,186		probably null	Het
Cmklr1	C	G	5: 113,614,929	D4H	possibly damaging	Het
Eif2ak1	T	C	5: 143,817,990	S34P	probably benign	Het
Enah	T	A	1: 181,906,453		probably benign	Het
Gad2	C	G	2: 22,624,833	L108V	probably benign	Het
Gpr22	T	C	12: 31,709,725	I133V	probably damaging	Het
Hdac4	T	C	1: 91,975,465	T13A	probably benign	Het
Ighv1-4	A	G	12: 114,487,437	V17A	possibly damaging	Het
Ints8	T	A	4: 11,221,143	Q744L	probably benign	Het
Lrit3	C	T	3: 129,791,438	V224I	possibly damaging	Het
Mgat4a	T	C	1: 37,495,954	I108V	probably benign	Het
Mmp9	T	C	2: 164,953,608	I682T	probably benign	Het
Myh7b	G	A	2: 155,632,672	A1742T	probably benign	Het
Nlrp12	C	T	7: 3,249,385	G52D	probably damaging	Het
Olfr1094	T	C	2: 86,829,501	F250L	possibly damaging	Het
Pcnx	T	C	12: 81,950,153	L941P	probably damaging	Het
Pla2g4e	T	C	2: 120,244,775	R45G	probably benign	Het
Plcz1	C	G	6: 140,016,216	G203A	probably damaging	Het
Poldip2	A	G	11: 78,515,175	T76A	probably benign	Het
Prdm15	T	A	16: 97,816,983	H325L	possibly damaging	Het
Ralyl	A	T	3: 13,776,920	I39F	probably damaging	Het
Rnf220	A	C	4: 117,296,091		probably benign	Het
Rnpc3	T	C	3: 113,615,453	K318E	probably damaging	Het
Rsbn1	T	A	3: 103,928,943	N432K	probably damaging	Het
Sh3yl1	T	A	12: 30,942,073	Y176N	probably damaging	Het
Slc25a30	G	A	14: 75,763,349	L272F	probably damaging	Het
Spag1	T	C	15: 36,234,626	V844A	probably damaging	Het
Srsf5	T	C	12: 80,949,083		probably benign	Het
Tle2	T	A	10: 81,581,740	D223E	probably benign	Het
Tmem192	A	G	8: 64,964,246	E39G	possibly damaging	Het
Trpc6	T	A	9: 8,626,735	L362H	probably damaging	Het
Tuba4a	A	G	1: 75,216,416	Y185H	probably damaging	Het
Uba6	A	G	5: 86,120,546	V941A	probably benign	Het
Vmn2r35	A	T	7: 7,786,480	Y753N	probably damaging	Het
Zfp941	C	T	7: 140,811,917	V510I	probably benign	Het

Other mutations in Cckar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Cckar	APN	5	53699829	missense	possibly damaging	0.86
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
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
X0028:Cckar	UTSW	5	53707273	missense	probably benign	0.22
X0028:Cckar	UTSW	5	53707274	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACAGGAAGCGGCACATGTTC -3'
(R):5'- CGTTTCAGTACAAAACCGGG -3'

Sequencing Primer
(F):5'- ACATGTTCGCCGTCTGG -3'
(R):5'- TTTCAGTACAAAACCGGGACTAAATC -3'

Posted On

2016-10-05