Incidental Mutation 'R7192:Cpd'
| ID |
559668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
045333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R7192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76705667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 355
(Y355C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021201
AA Change: Y355C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: Y355C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
Zn_pept
|
62 |
471 |
1.71e-52 |
SMART |
|
Zn_pept
|
502 |
900 |
2.11e-66 |
SMART |
|
Zn_pept
|
930 |
1195 |
1.11e-42 |
SMART |
|
Pfam:CarboxypepD_reg
|
1211 |
1284 |
3.6e-10 |
PFAM |
|
transmembrane domain
|
1297 |
1319 |
N/A |
INTRINSIC |
|
low complexity region
|
1363 |
1371 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (72/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
G |
A |
2: 30,686,188 (GRCm39) |
T329I |
probably damaging |
Het |
| Actl6a |
C |
A |
3: 32,774,373 (GRCm39) |
P290H |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,055,723 (GRCm39) |
|
probably null |
Het |
| Anxa2r2 |
T |
A |
13: 120,488,241 (GRCm39) |
K103* |
probably null |
Het |
| Bach1 |
C |
T |
16: 87,526,551 (GRCm39) |
S671L |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 118,633,210 (GRCm39) |
I1099V |
|
Het |
| Cage1 |
G |
T |
13: 38,203,220 (GRCm39) |
P615T |
probably benign |
Het |
| Caskin2 |
C |
A |
11: 115,692,202 (GRCm39) |
R861L |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,762,881 (GRCm39) |
T386A |
unknown |
Het |
| Ccndbp1 |
A |
G |
2: 120,843,424 (GRCm39) |
D272G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,983,599 (GRCm39) |
V1553E |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,667,033 (GRCm39) |
H414L |
probably damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,672 (GRCm39) |
G148D |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,608,432 (GRCm39) |
V1284A |
probably benign |
Het |
| Csmd3 |
C |
T |
15: 47,567,633 (GRCm39) |
V1266I |
|
Het |
| Cyfip2 |
T |
C |
11: 46,145,493 (GRCm39) |
E609G |
probably benign |
Het |
| Dbr1 |
T |
C |
9: 99,458,755 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,088,920 (GRCm39) |
Y2800H |
probably damaging |
Het |
| Dnajc6 |
G |
T |
4: 101,455,000 (GRCm39) |
A64S |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,953,068 (GRCm39) |
N248I |
possibly damaging |
Het |
| Dsp |
A |
T |
13: 38,379,569 (GRCm39) |
I2105F |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,805,965 (GRCm39) |
V89M |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,761,890 (GRCm39) |
Q528R |
probably benign |
Het |
| Epb42 |
A |
T |
2: 120,854,578 (GRCm39) |
V669D |
unknown |
Het |
| Fat4 |
A |
T |
3: 39,034,613 (GRCm39) |
Q2755L |
probably benign |
Het |
| Gata6 |
A |
G |
18: 11,054,475 (GRCm39) |
K135E |
possibly damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,955,201 (GRCm39) |
F325I |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,677,451 (GRCm39) |
E276K |
probably damaging |
Het |
| H4c17 |
A |
T |
13: 21,996,227 (GRCm39) |
K92* |
probably null |
Het |
| Ifi207 |
T |
C |
1: 173,556,584 (GRCm39) |
N718S |
not run |
Het |
| Il6st |
A |
G |
13: 112,631,741 (GRCm39) |
N427D |
probably benign |
Het |
| Kat7 |
T |
A |
11: 95,166,656 (GRCm39) |
M509L |
probably benign |
Het |
| Klk1b4 |
T |
C |
7: 43,859,045 (GRCm39) |
V21A |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,570,898 (GRCm39) |
L78Q |
probably benign |
Het |
| Mertk |
A |
G |
2: 128,635,028 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,796,376 (GRCm39) |
L1016P |
probably damaging |
Het |
| Neu4 |
A |
G |
1: 93,952,863 (GRCm39) |
I411V |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,627,105 (GRCm39) |
D420V |
probably damaging |
Het |
| Or10j3b |
T |
A |
1: 173,043,575 (GRCm39) |
M119K |
probably damaging |
Het |
| Or2w2 |
A |
G |
13: 21,758,539 (GRCm39) |
L29P |
probably damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,577 (GRCm39) |
E173G |
possibly damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,542 (GRCm39) |
D174G |
probably benign |
Het |
| Pcdha12 |
C |
T |
18: 37,153,316 (GRCm39) |
R12W |
probably benign |
Het |
| Pdgfra |
G |
T |
5: 75,343,767 (GRCm39) |
D763Y |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,634,523 (GRCm39) |
V518A |
probably benign |
Het |
| Prb1a |
G |
T |
6: 132,184,335 (GRCm39) |
P433T |
unknown |
Het |
| Ptrh2 |
A |
G |
11: 86,580,835 (GRCm39) |
T151A |
probably damaging |
Het |
| Qars1 |
T |
A |
9: 108,388,760 (GRCm39) |
N273K |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,717,638 (GRCm39) |
Y1154C |
probably benign |
Het |
| Rps6kc1 |
T |
A |
1: 190,532,556 (GRCm39) |
D482V |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,357,013 (GRCm39) |
S74P |
probably benign |
Het |
| Serpinb2 |
A |
T |
1: 107,452,306 (GRCm39) |
I295F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,364,318 (GRCm39) |
D301E |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,149,348 (GRCm39) |
T1637I |
probably benign |
Het |
| Slc27a4 |
A |
T |
2: 29,695,941 (GRCm39) |
N159Y |
probably damaging |
Het |
| Stat1 |
A |
C |
1: 52,174,780 (GRCm39) |
K161Q |
possibly damaging |
Het |
| Stc2 |
T |
C |
11: 31,319,872 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,522,651 (GRCm39) |
W681R |
possibly damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,062 (GRCm39) |
G687S |
probably damaging |
Het |
| Thnsl2 |
C |
T |
6: 71,116,739 (GRCm39) |
V138I |
probably benign |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1a |
T |
C |
6: 125,338,559 (GRCm39) |
S235P |
unknown |
Het |
| Tpbg |
T |
A |
9: 85,726,085 (GRCm39) |
L18* |
probably null |
Het |
| Trabd2b |
A |
T |
4: 114,467,217 (GRCm39) |
Q482L |
possibly damaging |
Het |
| Trim35 |
T |
A |
14: 66,534,895 (GRCm39) |
F126Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,658,288 (GRCm39) |
V12364D |
unknown |
Het |
| Ubac2 |
A |
G |
14: 122,211,128 (GRCm39) |
Y166C |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,519 (GRCm39) |
V1320D |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,410,571 (GRCm39) |
Y2693N |
|
Het |
| Utp20 |
A |
T |
10: 88,608,321 (GRCm39) |
M1572K |
probably benign |
Het |
| Vmn1r7 |
C |
T |
6: 57,001,452 (GRCm39) |
M269I |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,167,364 (GRCm39) |
G589D |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,636 (GRCm39) |
M129L |
probably damaging |
Het |
| Zfp273 |
A |
T |
13: 67,973,183 (GRCm39) |
T104S |
possibly damaging |
Het |
| Zfp384 |
T |
A |
6: 125,010,275 (GRCm39) |
N390K |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,884,110 (GRCm39) |
M933T |
probably benign |
Het |
|
| Other mutations in Cpd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Cpd
|
APN |
11 |
76,688,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00698:Cpd
|
APN |
11 |
76,731,270 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01025:Cpd
|
APN |
11 |
76,686,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01292:Cpd
|
APN |
11 |
76,737,071 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01571:Cpd
|
APN |
11 |
76,673,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01606:Cpd
|
APN |
11 |
76,703,466 (GRCm39) |
missense |
probably benign |
|
|
IGL02283:Cpd
|
APN |
11 |
76,731,251 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02895:Cpd
|
APN |
11 |
76,676,029 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02965:Cpd
|
APN |
11 |
76,681,814 (GRCm39) |
splice site |
probably benign |
|
|
IGL03116:Cpd
|
APN |
11 |
76,702,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03178:Cpd
|
APN |
11 |
76,696,877 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4280001:Cpd
|
UTSW |
11 |
76,681,850 (GRCm39) |
missense |
probably benign |
0.23 |
|
PIT4382001:Cpd
|
UTSW |
11 |
76,688,614 (GRCm39) |
missense |
probably benign |
|
|
R0050:Cpd
|
UTSW |
11 |
76,683,685 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0054:Cpd
|
UTSW |
11 |
76,681,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Cpd
|
UTSW |
11 |
76,681,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Cpd
|
UTSW |
11 |
76,731,273 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0416:Cpd
|
UTSW |
11 |
76,676,030 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0556:Cpd
|
UTSW |
11 |
76,693,171 (GRCm39) |
splice site |
probably benign |
|
|
R0666:Cpd
|
UTSW |
11 |
76,673,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0668:Cpd
|
UTSW |
11 |
76,675,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1180:Cpd
|
UTSW |
11 |
76,692,579 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1472:Cpd
|
UTSW |
11 |
76,675,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1518:Cpd
|
UTSW |
11 |
76,731,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1617:Cpd
|
UTSW |
11 |
76,737,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Cpd
|
UTSW |
11 |
76,683,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1854:Cpd
|
UTSW |
11 |
76,677,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Cpd
|
UTSW |
11 |
76,675,208 (GRCm39) |
splice site |
probably benign |
|
|
R2159:Cpd
|
UTSW |
11 |
76,688,467 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2205:Cpd
|
UTSW |
11 |
76,693,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2281:Cpd
|
UTSW |
11 |
76,688,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2680:Cpd
|
UTSW |
11 |
76,681,825 (GRCm39) |
missense |
probably benign |
|
|
R2928:Cpd
|
UTSW |
11 |
76,737,200 (GRCm39) |
missense |
probably benign |
|
|
R2937:Cpd
|
UTSW |
11 |
76,702,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Cpd
|
UTSW |
11 |
76,705,644 (GRCm39) |
nonsense |
probably null |
|
|
R4241:Cpd
|
UTSW |
11 |
76,737,611 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4369:Cpd
|
UTSW |
11 |
76,688,537 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4538:Cpd
|
UTSW |
11 |
76,681,825 (GRCm39) |
missense |
probably benign |
|
|
R4551:Cpd
|
UTSW |
11 |
76,702,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Cpd
|
UTSW |
11 |
76,731,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Cpd
|
UTSW |
11 |
76,702,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4733:Cpd
|
UTSW |
11 |
76,702,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4821:Cpd
|
UTSW |
11 |
76,737,063 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4852:Cpd
|
UTSW |
11 |
76,675,976 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4901:Cpd
|
UTSW |
11 |
76,681,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Cpd
|
UTSW |
11 |
76,705,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4999:Cpd
|
UTSW |
11 |
76,737,048 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5005:Cpd
|
UTSW |
11 |
76,704,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Cpd
|
UTSW |
11 |
76,702,530 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5438:Cpd
|
UTSW |
11 |
76,682,792 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5524:Cpd
|
UTSW |
11 |
76,688,727 (GRCm39) |
nonsense |
probably null |
|
|
R5677:Cpd
|
UTSW |
11 |
76,690,651 (GRCm39) |
missense |
probably benign |
|
|
R5826:Cpd
|
UTSW |
11 |
76,675,242 (GRCm39) |
nonsense |
probably null |
|
|
R6031:Cpd
|
UTSW |
11 |
76,681,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6031:Cpd
|
UTSW |
11 |
76,681,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6103:Cpd
|
UTSW |
11 |
76,690,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6257:Cpd
|
UTSW |
11 |
76,703,496 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6263:Cpd
|
UTSW |
11 |
76,737,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6485:Cpd
|
UTSW |
11 |
76,699,533 (GRCm39) |
splice site |
probably null |
|
|
R6671:Cpd
|
UTSW |
11 |
76,686,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Cpd
|
UTSW |
11 |
76,675,881 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7074:Cpd
|
UTSW |
11 |
76,704,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Cpd
|
UTSW |
11 |
76,737,779 (GRCm39) |
missense |
unknown |
|
|
R7371:Cpd
|
UTSW |
11 |
76,737,437 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7380:Cpd
|
UTSW |
11 |
76,693,151 (GRCm39) |
nonsense |
probably null |
|
|
R7392:Cpd
|
UTSW |
11 |
76,692,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Cpd
|
UTSW |
11 |
76,673,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Cpd
|
UTSW |
11 |
76,688,702 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7767:Cpd
|
UTSW |
11 |
76,704,385 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8935:Cpd
|
UTSW |
11 |
76,731,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Cpd
|
UTSW |
11 |
76,675,275 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9172:Cpd
|
UTSW |
11 |
76,675,252 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9173:Cpd
|
UTSW |
11 |
76,699,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9310:Cpd
|
UTSW |
11 |
76,705,607 (GRCm39) |
nonsense |
probably null |
|
|
R9666:Cpd
|
UTSW |
11 |
76,693,133 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Cpd
|
UTSW |
11 |
76,692,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACAAAGAACATGCTATTTGGAC -3'
(R):5'- CACACAGAGTTCCCAGTGTG -3'
Sequencing Primer
(F):5'- GAACATGCTATTTGGACTGTTCTTC -3'
(R):5'- CAGAGTTCCCAGTGTGTATAAACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation