Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Cckar'

698432

Institutional Source

Beutler Lab

Gene Symbol

Cckar

Ensembl Gene

ENSMUSG00000029193

Gene Name

cholecystokinin A receptor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53697776-53707705 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 53707245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031093 (fasta)

Gene Model

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

AlphaFold

O08786

Predicted Effect

probably null
Transcript: ENSMUST00000031093

SMART Domains

Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	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
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
R8790:Cckar	UTSW	5	53699949	missense	probably damaging	1.00
R8897:Cckar	UTSW	5	53707241	start gained	probably benign
R9010:Cckar	UTSW	5	53699821	missense	probably damaging	1.00
R9054:Cckar	UTSW	5	53703082	missense	probably damaging	1.00
R9396:Cckar	UTSW	5	53707281	missense	probably damaging	1.00
R9646:Cckar	UTSW	5	53706266	missense	probably benign	0.01
R9656:Cckar	UTSW	5	53699976	missense	probably damaging	0.99
R9709:Cckar	UTSW	5	53702859	critical splice donor site	probably null
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'- CTTTGTCTCACGGGGACTTTGC -3'
(R):5'- CCTTTAGGAATGGCTGCAGAGC -3'

Sequencing Primer
(F):5'- ACTTTGCGCGCGTGTACAC -3'
(R):5'- TGGGAGACTCTATGATCATTAGAGG -3'

Posted On

2022-02-07