Mutagenetix > Incidental Mutation

Incidental Mutation 'R7127:Cckar'

552381

Institutional Source

Beutler Lab

Gene Symbol

Cckar

Ensembl Gene

ENSMUSG00000029193

Gene Name

cholecystokinin A receptor

Synonyms

MMRRC Submission

045246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53855827-53865046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53863817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 48 (Y48F)

Ref Sequence

ENSEMBL: ENSMUSP00000031093 (fasta)

Gene Model

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

AlphaFold

O08786

Predicted Effect

probably damaging
Transcript: ENSMUST00000031093
AA Change: Y48F

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

SMART Domains

Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: Y48F

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: 99.7%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,931,825 (GRCm39)	T26I	probably benign	Het
Adam5	A	T	8: 25,300,797 (GRCm39)	I244N	probably damaging	Het
Adam7	A	G	14: 68,752,218 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,268,033 (GRCm39)	N204K	probably benign	Het
Arl13b	C	T	16: 62,622,102 (GRCm39)	G397D	probably damaging	Het
AU041133	T	C	10: 81,986,700 (GRCm39)	F118L	probably benign	Het
Brinp1	C	T	4: 68,711,260 (GRCm39)	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,272,160 (GRCm39)	V268I	probably benign	Het
Car15	T	C	16: 17,656,060 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,576,421 (GRCm39)	D89E	possibly damaging	Het
Cdyl	T	A	13: 36,040,651 (GRCm39)	S282T	probably benign	Het
Clca3a1	T	C	3: 144,711,806 (GRCm39)	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,045,695 (GRCm39)	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,460,462 (GRCm39)	F24S	probably damaging	Het
Duox2	C	T	2: 122,122,430 (GRCm39)	G565D	probably benign	Het
Ehbp1	A	T	11: 22,003,529 (GRCm39)	Y1073*	probably null	Het
Epg5	A	T	18: 78,072,140 (GRCm39)	N2384I	probably damaging	Het
Fam171b	A	G	2: 83,710,110 (GRCm39)	D594G	probably benign	Het
Flad1	A	G	3: 89,310,725 (GRCm39)	Y441H	probably damaging	Het
Fn1	T	C	1: 71,636,703 (GRCm39)	T2150A	probably benign	Het
Fnta	C	A	8: 26,497,231 (GRCm39)	R206L	probably damaging	Het
Gadd45b	A	T	10: 80,766,999 (GRCm39)	M95L	probably benign	Het
Gbp8	A	T	5: 105,165,578 (GRCm39)	H358Q	probably benign	Het
Glipr1l3	C	A	10: 111,983,995 (GRCm39)	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,829,903 (GRCm39)	I94T	possibly damaging	Het
Hunk	A	G	16: 90,272,779 (GRCm39)	D361G	probably damaging	Het
Igkv3-4	T	A	6: 70,649,155 (GRCm39)	Y51*	probably null	Het
Kif26a	C	T	12: 112,144,579 (GRCm39)	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,960,829 (GRCm39)	V413A	probably damaging	Het
Med6	C	T	12: 81,635,774 (GRCm39)	R86Q	probably damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Or6c66b	T	A	10: 129,376,936 (GRCm39)	C177S	probably damaging	Het
Plk3	A	T	4: 116,987,767 (GRCm39)	V429E	probably benign	Het
Plrg1	C	T	3: 82,967,222 (GRCm39)	P131L	probably damaging	Het
Plscr4	C	T	9: 92,372,831 (GRCm39)	R318*	probably null	Het
Rab34	A	T	11: 78,082,056 (GRCm39)	K152*	probably null	Het
Rasef	A	T	4: 73,662,369 (GRCm39)	S194T	probably damaging	Het
Rcc1	A	G	4: 132,062,107 (GRCm39)	S269P	probably damaging	Het
Resf1	T	C	6: 149,229,443 (GRCm39)	F830L	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scin	A	G	12: 40,155,071 (GRCm39)	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,525,200 (GRCm39)	M1V	probably null	Het
Smok3c	A	T	5: 138,062,971 (GRCm39)	I153F	probably damaging	Het
Spen	G	A	4: 141,203,419 (GRCm39)	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,426,446 (GRCm39)	M155K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sun2	T	C	15: 79,612,100 (GRCm39)	I528M	probably benign	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Taok2	G	T	7: 126,466,326 (GRCm39)	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,411,739 (GRCm39)	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,031,922 (GRCm39)	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,657,148 (GRCm39)	L696H	probably damaging	Het
Trank1	T	G	9: 111,194,864 (GRCm39)	S963A	possibly damaging	Het
Trf	A	G	9: 103,102,326 (GRCm39)	V184A	probably benign	Het
Ttll13	T	A	7: 79,903,406 (GRCm39)	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,849,455 (GRCm39)	T41P	probably benign	Het
Zfhx4	A	G	3: 5,478,104 (GRCm39)	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,124,853 (GRCm39)	H540Y	probably damaging	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
IGL00568:Cckar	APN	5	53,864,643 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- GACTCACCCATGAAGTAGGTG -3'
(R):5'- AGTTCAGGAATACTTGGGCTCAG -3'

Sequencing Primer
(F):5'- CTCACCCATGAAGTAGGTGGTAGTC -3'
(R):5'- ATACTTGGGCTCAGTGATGCATACC -3'

Posted On

2019-05-15