Incidental Mutation 'R9054:Cckar'
| ID |
688558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cckar
|
| Ensembl Gene |
ENSMUSG00000029193 |
| Gene Name |
cholecystokinin A receptor |
| Synonyms |
|
| MMRRC Submission |
068880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R9054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53855827-53865046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53860424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 135
(I135N)
|
| 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: I135N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031093
Gene: ENSMUSG00000029193
AA Change: I135N
| 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: I64N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144103
Gene: ENSMUSG00000029193
AA Change: I64N
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankef1 |
T |
A |
2: 136,395,594 (GRCm39) |
D641E |
probably benign |
Het |
| Anln |
A |
G |
9: 22,272,116 (GRCm39) |
|
probably null |
Het |
| Areg |
A |
T |
5: 91,292,217 (GRCm39) |
E172D |
probably damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,482 (GRCm39) |
T24S |
probably benign |
Het |
| Cdca7 |
CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA |
CGAGGAAGAGGAGGAGGAAGAGGA |
2: 72,313,821 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,235,551 (GRCm39) |
H2056R |
possibly damaging |
Het |
| Chrnb2 |
T |
C |
3: 89,664,562 (GRCm39) |
K451E |
probably damaging |
Het |
| Ctnna2 |
C |
T |
6: 76,919,249 (GRCm39) |
R663Q |
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,853,253 (GRCm39) |
I406F |
probably benign |
Het |
| Eml4 |
T |
A |
17: 83,734,640 (GRCm39) |
|
probably benign |
Het |
| Fkrp |
G |
T |
7: 16,544,569 (GRCm39) |
T431K |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,806,180 (GRCm39) |
Y833F |
possibly damaging |
Het |
| Galnt2 |
T |
C |
8: 125,058,837 (GRCm39) |
|
probably null |
Het |
| Gm8180 |
T |
A |
14: 44,019,806 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
T |
C |
13: 118,108,171 (GRCm39) |
S552P |
unknown |
Het |
| Ifit1 |
A |
C |
19: 34,625,887 (GRCm39) |
E341A |
possibly damaging |
Het |
| Iyd |
A |
G |
10: 3,490,250 (GRCm39) |
|
probably benign |
Het |
| Krt72 |
A |
T |
15: 101,694,836 (GRCm39) |
S20T |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,423,069 (GRCm39) |
D108E |
probably benign |
Het |
| Lipn |
A |
T |
19: 34,054,376 (GRCm39) |
I205F |
possibly damaging |
Het |
| Nat1 |
G |
T |
8: 67,943,723 (GRCm39) |
R36L |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,415,907 (GRCm39) |
M334K |
possibly damaging |
Het |
| Nectin4 |
A |
T |
1: 171,214,351 (GRCm39) |
N502I |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,214,389 (GRCm39) |
V626I |
probably benign |
Het |
| Oprm1 |
G |
A |
10: 6,773,914 (GRCm39) |
|
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,017,680 (GRCm39) |
Y49C |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,204 (GRCm39) |
V124M |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,156,927 (GRCm39) |
Y637C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,071,924 (GRCm39) |
V306A |
probably damaging |
Het |
| Pdzd9 |
G |
A |
7: 120,269,498 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,947,017 (GRCm39) |
D810V |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,392,304 (GRCm39) |
H1966L |
probably benign |
Het |
| Pmfbp1 |
C |
T |
8: 110,247,661 (GRCm39) |
T319I |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,692,314 (GRCm39) |
Q229R |
probably benign |
Het |
| Prb1c |
G |
C |
6: 132,338,856 (GRCm39) |
Q121E |
unknown |
Het |
| Psg18 |
T |
A |
7: 18,087,450 (GRCm39) |
R69S |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,213,638 (GRCm38) |
Q1002L |
possibly damaging |
Het |
| Ptprj |
T |
C |
2: 90,290,984 (GRCm39) |
Y585C |
probably damaging |
Het |
| Rad51c |
T |
C |
11: 87,293,542 (GRCm39) |
T105A |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,937,481 (GRCm39) |
D930E |
unknown |
Het |
| Rlf |
A |
C |
4: 121,007,784 (GRCm39) |
S509A |
possibly damaging |
Het |
| Slc39a3 |
C |
A |
10: 80,869,499 (GRCm39) |
G53C |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,670,017 (GRCm39) |
Q1685* |
probably null |
Het |
| Sprr2d |
A |
C |
3: 92,247,715 (GRCm39) |
E52A |
unknown |
Het |
| Stat1 |
A |
G |
1: 52,182,086 (GRCm39) |
N355S |
probably damaging |
Het |
| Tmem30b |
T |
C |
12: 73,592,923 (GRCm39) |
E64G |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,869,392 (GRCm39) |
V82D |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,570,977 (GRCm39) |
T26639S |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,727,725 (GRCm39) |
N952K |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,724 (GRCm39) |
H339Q |
possibly damaging |
Het |
| Vps13b |
G |
A |
15: 35,422,537 (GRCm39) |
D166N |
probably damaging |
Het |
| Zfp954 |
C |
A |
7: 7,119,097 (GRCm39) |
C149F |
probably benign |
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 |
|
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 |
|
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'- ACAGGAAGCGGCACATGTTC -3'
(R):5'- TCCGTTTCAGTACAAAACCGGG -3'
Sequencing Primer
(F):5'- ACATGTTCGCCGTCTGG -3'
(R):5'- TTTCAGTACAAAACCGGGACTAAATC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation