Incidental Mutation 'R9666:Cpd'
| ID |
735730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpd
|
| Ensembl Gene |
ENSMUSG00000020841 |
| Gene Name |
carboxypeptidase D |
| Synonyms |
D830034L15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R9666 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76669250-76737844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76693133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 718
(P718S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021201
AA Change: P718S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: P718S
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
A |
12: 118,838,422 (GRCm39) |
V1047L |
probably damaging |
Het |
| Akap6 |
G |
A |
12: 53,188,318 (GRCm39) |
A1911T |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,726,838 (GRCm39) |
K819* |
probably null |
Het |
| Apc2 |
A |
G |
10: 80,147,183 (GRCm39) |
R746G |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,988,345 (GRCm39) |
I268T |
probably benign |
Het |
| Bysl |
A |
G |
17: 47,914,865 (GRCm39) |
I206T |
probably benign |
Het |
| Ccdc70 |
A |
C |
8: 22,463,357 (GRCm39) |
E49A |
possibly damaging |
Het |
| Chd1 |
A |
T |
17: 15,955,976 (GRCm39) |
H525L |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,496,670 (GRCm39) |
E442G |
unknown |
Het |
| Dip2b |
T |
A |
15: 100,107,461 (GRCm39) |
I1391N |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,501,946 (GRCm39) |
T541A |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,218,947 (GRCm39) |
Q1796* |
probably null |
Het |
| Gm10267 |
T |
C |
18: 44,291,397 (GRCm39) |
I25V |
probably benign |
Het |
| Gm32742 |
C |
T |
9: 51,061,441 (GRCm39) |
R744Q |
probably benign |
Het |
| Gm37240 |
T |
C |
3: 84,422,952 (GRCm39) |
Y139C |
probably damaging |
Het |
| Gm39115 |
A |
G |
7: 141,689,255 (GRCm39) |
C173R |
unknown |
Het |
| Grm6 |
T |
G |
11: 50,750,877 (GRCm39) |
V680G |
probably damaging |
Het |
| Grxcr2 |
C |
T |
18: 42,131,956 (GRCm39) |
D38N |
probably damaging |
Het |
| Iah1 |
G |
A |
12: 21,366,587 (GRCm39) |
R52H |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,131,920 (GRCm39) |
Y36C |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,588 (GRCm39) |
I334V |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,897,692 (GRCm39) |
Q958L |
possibly damaging |
Het |
| Il4i1 |
G |
A |
7: 44,489,263 (GRCm39) |
A343T |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,748,217 (GRCm39) |
I1128V |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,111,588 (GRCm39) |
G7V |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,818,896 (GRCm39) |
R312G |
possibly damaging |
Het |
| Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
T |
17: 71,529,065 (GRCm39) |
N108Y |
probably damaging |
Het |
| Man2a1 |
A |
T |
17: 64,943,557 (GRCm39) |
E204V |
possibly damaging |
Het |
| Megf8 |
A |
G |
7: 25,030,166 (GRCm39) |
T434A |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,484,072 (GRCm39) |
S442T |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,567,285 (GRCm39) |
T1745A |
unknown |
Het |
| Mycbp2 |
G |
T |
14: 103,371,474 (GRCm39) |
P4135T |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,857,045 (GRCm39) |
V398A |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,885 (GRCm39) |
I255T |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,976 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5w11 |
C |
T |
2: 87,459,152 (GRCm39) |
A115V |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,099 (GRCm39) |
S323T |
probably benign |
Het |
| Or6e1 |
G |
T |
14: 54,520,342 (GRCm39) |
N3K |
probably damaging |
Het |
| Or6f1 |
A |
G |
7: 85,970,444 (GRCm39) |
S239P |
probably damaging |
Het |
| Parg |
A |
G |
14: 31,964,294 (GRCm39) |
N653S |
probably damaging |
Het |
| Plek |
A |
G |
11: 16,945,346 (GRCm39) |
F18L |
probably benign |
Het |
| Pnoc |
A |
G |
14: 65,639,247 (GRCm39) |
I206T |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,049,129 (GRCm39) |
M1V |
probably null |
Het |
| Pramel21 |
A |
G |
4: 143,341,699 (GRCm39) |
T43A |
probably benign |
Het |
| Psg22 |
T |
C |
7: 18,458,248 (GRCm39) |
V313A |
probably benign |
Het |
| Ptk2b |
G |
T |
14: 66,409,546 (GRCm39) |
P497T |
probably damaging |
Het |
| Rer1 |
A |
G |
4: 155,160,044 (GRCm39) |
|
probably null |
Het |
| Rnf130 |
A |
G |
11: 49,986,618 (GRCm39) |
T321A |
probably benign |
Het |
| Rnf207 |
A |
T |
4: 152,397,717 (GRCm39) |
F346I |
probably damaging |
Het |
| Rraga |
T |
A |
4: 86,494,574 (GRCm39) |
I140N |
possibly damaging |
Het |
| Rusc2 |
A |
T |
4: 43,416,262 (GRCm39) |
M523L |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,792,622 (GRCm39) |
V495D |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,945,926 (GRCm39) |
L153P |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,764,072 (GRCm39) |
S631P |
probably damaging |
Het |
| Syne1 |
A |
C |
10: 4,984,937 (GRCm39) |
L747R |
probably damaging |
Het |
| Tac1 |
A |
G |
6: 7,555,675 (GRCm39) |
E21G |
probably benign |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,542,957 (GRCm39) |
D1344G |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,926,045 (GRCm39) |
E912K |
probably damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,285,037 (GRCm39) |
T38A |
probably benign |
Het |
| Trbv15 |
T |
A |
6: 41,118,364 (GRCm39) |
L40Q |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,973,455 (GRCm39) |
I288V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,604,941 (GRCm39) |
I18331N |
probably damaging |
Het |
| Tubgcp2 |
A |
T |
7: 139,587,836 (GRCm39) |
I263N |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,023,870 (GRCm39) |
T904A |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,323 (GRCm39) |
T106M |
probably damaging |
Het |
| Zfp617 |
A |
G |
8: 72,686,539 (GRCm39) |
T290A |
probably benign |
Het |
| Zfp809 |
T |
C |
9: 22,149,863 (GRCm39) |
V120A |
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 |
|
R7192:Cpd
|
UTSW |
11 |
76,705,667 (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 |
|
|
Z1088:Cpd
|
UTSW |
11 |
76,692,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAATCCAAGAGCACCAAGTG -3'
(R):5'- ATGGCAGTGTTCTCCCACTTG -3'
Sequencing Primer
(F):5'- CTTAAAGCACTTGGGCATTAGG -3'
(R):5'- CCCTCTGGTAATCTTTGTAAATC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation