Mutagenetix > Incidental Mutation

Incidental Mutation 'R6415:Cckar'

517854

Institutional Source

Beutler Lab

Gene Symbol

Cckar

Ensembl Gene

ENSMUSG00000029193

Gene Name

cholecystokinin A receptor

Synonyms

MMRRC Submission

044557-MU

Accession Numbers

Essential gene?

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

Stock #

R6415 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53855827-53865046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53860398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 73 (C73S)

Ref Sequence

ENSEMBL: ENSMUSP00000144103 (fasta)

Gene Model

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

AlphaFold

O08786

Predicted Effect

probably damaging
Transcript: ENSMUST00000031093
AA Change: C144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: C144S

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: C73S

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

SMART Domains

Protein: ENSMUSP00000144103
Gene: ENSMUSG00000029193
AA Change: C73S

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

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,881,296 (GRCm39)	T482M	probably benign	Het
Adam9	A	G	8: 25,468,498 (GRCm39)	Y513H	probably damaging	Het
Adamts20	C	T	15: 94,222,540 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,759 (GRCm39)	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,354,243 (GRCm39)	I224T	probably damaging	Het
Ccdc18	A	G	5: 108,309,612 (GRCm39)	I402M	probably benign	Het
Cdk13	C	T	13: 17,913,739 (GRCm39)	R880H	probably damaging	Het
Col1a1	A	G	11: 94,830,986 (GRCm39)	N218D	unknown	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp2c69	A	G	19: 39,831,365 (GRCm39)	F483L	probably benign	Het
Ddx60	A	G	8: 62,436,939 (GRCm39)	D963G	probably benign	Het
Dhx8	G	T	11: 101,628,513 (GRCm39)	A142S	unknown	Het
Dock7	C	T	4: 98,880,685 (GRCm39)	R926Q	probably damaging	Het
Dscaml1	C	T	9: 45,594,975 (GRCm39)	Q693*	probably null	Het
Dysf	G	A	6: 84,117,024 (GRCm39)	C1234Y	probably damaging	Het
Ercc1	G	A	7: 19,089,102 (GRCm39)		probably null	Het
Fam91a1	T	C	15: 58,314,766 (GRCm39)	L549P	probably damaging	Het
Fxyd2	T	A	9: 45,314,592 (GRCm39)	Y5N	possibly damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gpr182	T	A	10: 127,586,375 (GRCm39)	D192V	possibly damaging	Het
Gps1	T	C	11: 120,678,548 (GRCm39)	V286A	possibly damaging	Het
Grk1	A	G	8: 13,463,127 (GRCm39)	Y383C	probably damaging	Het
H2bc15	T	C	13: 21,938,656 (GRCm39)	Y122H	probably benign	Het
Hic1	G	A	11: 75,057,143 (GRCm39)	P582L	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Khdc4	T	C	3: 88,607,279 (GRCm39)	F328L	probably benign	Het
Lactb	T	C	9: 66,877,927 (GRCm39)	K301E	possibly damaging	Het
Lrp3	A	T	7: 34,903,593 (GRCm39)	V251E	probably benign	Het
Mapt	G	A	11: 104,189,824 (GRCm39)	G265S	probably benign	Het
Obscn	A	T	11: 58,925,956 (GRCm39)	D6245E	probably damaging	Het
Or10al2	G	T	17: 37,983,448 (GRCm39)	C178F	possibly damaging	Het
Or1j12	A	G	2: 36,342,617 (GRCm39)	S7G	probably damaging	Het
Or4b1c	T	A	2: 90,126,381 (GRCm39)	I275F	probably damaging	Het
Or4c10b	T	C	2: 89,711,206 (GRCm39)	L12P	probably damaging	Het
Or6c207	T	C	10: 129,104,890 (GRCm39)	T101A	probably benign	Het
Or7e165	T	A	9: 19,695,044 (GRCm39)	I205N	probably damaging	Het
Or7g19	T	C	9: 18,856,415 (GRCm39)	L157P	probably damaging	Het
Oxsm	A	T	14: 16,241,904 (GRCm38)	H288Q	probably benign	Het
Pcdh9	C	T	14: 93,253,278 (GRCm39)	M1128I	possibly damaging	Het
Pcdha8	T	C	18: 37,127,614 (GRCm39)	Y699H	probably damaging	Het
Pgk2	A	T	17: 40,518,459 (GRCm39)	I323N	probably benign	Het
Plin4	A	G	17: 56,410,264 (GRCm39)	V1216A	probably damaging	Het
Ppargc1a	T	C	5: 51,620,176 (GRCm39)		probably benign	Het
Prelp	A	T	1: 133,840,516 (GRCm39)	I322N	probably benign	Het
Prelp	A	T	1: 133,842,395 (GRCm39)	I250N	probably damaging	Het
Prss27	T	A	17: 24,261,882 (GRCm39)	C63*	probably null	Het
Rab38	G	A	7: 88,079,748 (GRCm39)	A47T	possibly damaging	Het
Rprd2	G	A	3: 95,681,531 (GRCm39)	A436V	probably benign	Het
Sacs	A	T	14: 61,442,808 (GRCm39)	N1618I	probably damaging	Het
Scp2	T	G	4: 107,962,337 (GRCm39)	S63R	probably benign	Het
Sftpb	T	G	6: 72,281,633 (GRCm39)	W9G	probably damaging	Het
Slco1a4	A	T	6: 141,780,415 (GRCm39)	L125*	probably null	Het
Sptlc1	T	C	13: 53,505,728 (GRCm39)		probably null	Het
Sub1	T	A	15: 11,986,560 (GRCm39)	M96L	probably benign	Het
Tanc1	T	C	2: 59,667,458 (GRCm39)	V1233A	probably benign	Het
Tmem140	A	T	6: 34,849,658 (GRCm39)	D58V	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,083,811 (GRCm39)	Y91H	probably benign	Het
Trap1	C	T	16: 3,861,856 (GRCm39)	R636H	possibly damaging	Het
Ttc14	A	G	3: 33,857,724 (GRCm39)	H275R	possibly damaging	Het
Tut7	T	A	13: 59,964,110 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,391,869 (GRCm39)	W494R	probably damaging	Het
Ypel1	A	G	16: 16,921,438 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,975,510 (GRCm39)	I380N	possibly damaging	Het
Zswim5	T	C	4: 116,838,063 (GRCm39)	F798L	possibly 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
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

Predicted Primers

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

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

Posted On

2018-05-24