Incidental Mutation 'R9172:Cpd'
| ID |
696492 |
| 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: 0.935)
|
| Stock # |
R9172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76778424-76847018 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76784426 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 1290
(I1290L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021201]
|
| AlphaFold |
O89001 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021201
AA Change: I1290L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: I1290L
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130019O22Rik |
T |
C |
7: 127,385,454 (GRCm38) |
K159E |
probably benign |
Het |
| Accsl |
A |
T |
2: 93,861,488 (GRCm38) |
L332Q |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,160,317 (GRCm38) |
N855D |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,774,404 (GRCm38) |
C1199S |
probably benign |
Het |
| Alyref |
G |
A |
11: 120,596,016 (GRCm38) |
R140C |
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,245,329 (GRCm38) |
I92F |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,917,778 (GRCm38) |
R73* |
probably null |
Het |
| Btaf1 |
G |
A |
19: 37,000,230 (GRCm38) |
A1483T |
probably damaging |
Het |
| Casc1 |
A |
G |
6: 145,177,449 (GRCm38) |
F564L |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,222,129 (GRCm38) |
L357P |
probably damaging |
Het |
| Commd7 |
A |
T |
2: 153,628,554 (GRCm38) |
L51Q |
possibly damaging |
Het |
| Cry2 |
C |
A |
2: 92,413,648 (GRCm38) |
E393D |
probably damaging |
Het |
| Ctsm |
A |
T |
13: 61,537,829 (GRCm38) |
M74K |
|
Het |
| Dync2h1 |
T |
C |
9: 7,031,771 (GRCm38) |
Y3491C |
probably damaging |
Het |
| Erc1 |
A |
C |
6: 119,824,881 (GRCm38) |
N58K |
possibly damaging |
Het |
| Fbxw21 |
T |
C |
9: 109,146,696 (GRCm38) |
T211A |
probably benign |
Het |
| Fry |
T |
C |
5: 150,413,328 (GRCm38) |
V1388A |
probably benign |
Het |
| Fuk |
A |
G |
8: 110,883,925 (GRCm38) |
W949R |
probably damaging |
Het |
| Gca |
T |
G |
2: 62,690,024 (GRCm38) |
I176S |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,723,827 (GRCm38) |
K116* |
probably null |
Het |
| Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 142,240,710 (GRCm38) |
|
probably benign |
Het |
| Gm5415 |
G |
T |
1: 32,546,084 (GRCm38) |
H248Q |
probably benign |
Het |
| Gm906 |
A |
G |
13: 50,247,381 (GRCm38) |
F303S |
probably benign |
Het |
| Gm9195 |
A |
C |
14: 72,473,714 (GRCm38) |
L428R |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,779,257 (GRCm38) |
I490T |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,400,442 (GRCm38) |
T499A |
probably benign |
Het |
| Mbtps1 |
G |
A |
8: 119,533,369 (GRCm38) |
T413I |
probably damaging |
Het |
| Med4 |
A |
T |
14: 73,513,925 (GRCm38) |
S105C |
probably benign |
Het |
| Mgat1 |
G |
A |
11: 49,261,083 (GRCm38) |
R131Q |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,606,112 (GRCm38) |
*984W |
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,543,753 (GRCm38) |
E628G |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,292,434 (GRCm38) |
P713L |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 98,083,162 (GRCm38) |
D706G |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,374,750 (GRCm38) |
C997S |
possibly damaging |
Het |
| Nkx2-1 |
C |
A |
12: 56,534,967 (GRCm38) |
G32C |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,065,870 (GRCm38) |
T466A |
probably benign |
Het |
| Olfr1085 |
T |
A |
2: 86,657,535 (GRCm38) |
I308L |
probably benign |
Het |
| Olfr487 |
T |
C |
7: 108,211,962 (GRCm38) |
E189G |
probably benign |
Het |
| Opa1 |
C |
T |
16: 29,620,414 (GRCm38) |
R683C |
probably benign |
Het |
| Opa3 |
C |
T |
7: 19,255,541 (GRCm38) |
R110C |
probably damaging |
Het |
| Ppfibp2 |
T |
A |
7: 107,738,318 (GRCm38) |
L609* |
probably null |
Het |
| Pygo2 |
T |
A |
3: 89,433,310 (GRCm38) |
D338E |
possibly damaging |
Het |
| Pzp |
A |
T |
6: 128,525,209 (GRCm38) |
M59K |
probably benign |
Het |
| Reln |
A |
G |
5: 21,950,817 (GRCm38) |
|
probably null |
Het |
| Ripor1 |
A |
G |
8: 105,621,201 (GRCm38) |
D1097G |
unknown |
Het |
| Rmdn3 |
T |
C |
2: 119,138,382 (GRCm38) |
K443E |
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,557,435 (GRCm38) |
D373G |
possibly damaging |
Het |
| Sec23b |
A |
T |
2: 144,559,259 (GRCm38) |
E13D |
probably benign |
Het |
| Slc39a6 |
A |
G |
18: 24,582,342 (GRCm38) |
F707S |
probably damaging |
Het |
| Sox11 |
G |
A |
12: 27,341,537 (GRCm38) |
A291V |
possibly damaging |
Het |
| Spg20 |
T |
A |
3: 55,124,846 (GRCm38) |
V367D |
possibly damaging |
Het |
| Strap |
A |
T |
6: 137,741,367 (GRCm38) |
K156N |
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,769,408 (GRCm38) |
I951F |
possibly damaging |
Het |
| Taar7a |
T |
C |
10: 23,992,779 (GRCm38) |
I235V |
probably benign |
Het |
| Tek |
T |
A |
4: 94,804,346 (GRCm38) |
N230K |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,296,679 (GRCm38) |
C469* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,679,931 (GRCm38) |
H3132R |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,806,473 (GRCm38) |
D544G |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,278,982 (GRCm38) |
M94K |
possibly damaging |
Het |
| Vps33a |
T |
C |
5: 123,536,541 (GRCm38) |
T388A |
probably benign |
Het |
| Vta1 |
A |
G |
10: 14,675,999 (GRCm38) |
I152T |
probably damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,892,549 (GRCm38) |
D242G |
probably benign |
Het |
| Zfp12 |
T |
A |
5: 143,245,465 (GRCm38) |
C548S |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,749,459 (GRCm38) |
D546G |
probably benign |
Het |
| Zfp324 |
T |
A |
7: 12,970,762 (GRCm38) |
C293S |
probably damaging |
Het |
| Zscan4c |
A |
T |
7: 11,009,892 (GRCm38) |
I473F |
possibly damaging |
Het |
|
| Other mutations in Cpd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Cpd
|
APN |
11 |
76,797,789 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00698:Cpd
|
APN |
11 |
76,840,444 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01025:Cpd
|
APN |
11 |
76,795,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01292:Cpd
|
APN |
11 |
76,846,245 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01571:Cpd
|
APN |
11 |
76,782,296 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01606:Cpd
|
APN |
11 |
76,812,640 (GRCm38) |
missense |
probably benign |
|
|
IGL02283:Cpd
|
APN |
11 |
76,840,425 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02895:Cpd
|
APN |
11 |
76,785,203 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02965:Cpd
|
APN |
11 |
76,790,988 (GRCm38) |
splice site |
probably benign |
|
|
IGL03116:Cpd
|
APN |
11 |
76,811,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03178:Cpd
|
APN |
11 |
76,806,051 (GRCm38) |
missense |
probably benign |
0.02 |
|
PIT4280001:Cpd
|
UTSW |
11 |
76,791,024 (GRCm38) |
missense |
probably benign |
0.23 |
|
PIT4382001:Cpd
|
UTSW |
11 |
76,797,788 (GRCm38) |
missense |
probably benign |
|
|
R0050:Cpd
|
UTSW |
11 |
76,792,859 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0054:Cpd
|
UTSW |
11 |
76,790,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0054:Cpd
|
UTSW |
11 |
76,790,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0320:Cpd
|
UTSW |
11 |
76,840,447 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R0416:Cpd
|
UTSW |
11 |
76,785,204 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0556:Cpd
|
UTSW |
11 |
76,802,345 (GRCm38) |
splice site |
probably benign |
|
|
R0666:Cpd
|
UTSW |
11 |
76,782,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0668:Cpd
|
UTSW |
11 |
76,784,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1180:Cpd
|
UTSW |
11 |
76,801,753 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1472:Cpd
|
UTSW |
11 |
76,784,398 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1518:Cpd
|
UTSW |
11 |
76,840,386 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1617:Cpd
|
UTSW |
11 |
76,846,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1786:Cpd
|
UTSW |
11 |
76,792,798 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1854:Cpd
|
UTSW |
11 |
76,786,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1861:Cpd
|
UTSW |
11 |
76,784,382 (GRCm38) |
splice site |
probably benign |
|
|
R2159:Cpd
|
UTSW |
11 |
76,797,641 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2205:Cpd
|
UTSW |
11 |
76,802,244 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2281:Cpd
|
UTSW |
11 |
76,797,801 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2680:Cpd
|
UTSW |
11 |
76,790,999 (GRCm38) |
missense |
probably benign |
|
|
R2928:Cpd
|
UTSW |
11 |
76,846,374 (GRCm38) |
missense |
probably benign |
|
|
R2937:Cpd
|
UTSW |
11 |
76,811,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4133:Cpd
|
UTSW |
11 |
76,814,818 (GRCm38) |
nonsense |
probably null |
|
|
R4241:Cpd
|
UTSW |
11 |
76,846,785 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4369:Cpd
|
UTSW |
11 |
76,797,711 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4538:Cpd
|
UTSW |
11 |
76,790,999 (GRCm38) |
missense |
probably benign |
|
|
R4551:Cpd
|
UTSW |
11 |
76,811,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4617:Cpd
|
UTSW |
11 |
76,840,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4732:Cpd
|
UTSW |
11 |
76,811,794 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4733:Cpd
|
UTSW |
11 |
76,811,794 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4821:Cpd
|
UTSW |
11 |
76,846,237 (GRCm38) |
missense |
probably benign |
0.38 |
|
R4852:Cpd
|
UTSW |
11 |
76,785,150 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4901:Cpd
|
UTSW |
11 |
76,790,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4988:Cpd
|
UTSW |
11 |
76,814,830 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4999:Cpd
|
UTSW |
11 |
76,846,222 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5005:Cpd
|
UTSW |
11 |
76,813,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5092:Cpd
|
UTSW |
11 |
76,811,704 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5438:Cpd
|
UTSW |
11 |
76,791,966 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5524:Cpd
|
UTSW |
11 |
76,797,901 (GRCm38) |
nonsense |
probably null |
|
|
R5677:Cpd
|
UTSW |
11 |
76,799,825 (GRCm38) |
missense |
probably benign |
|
|
R5826:Cpd
|
UTSW |
11 |
76,784,416 (GRCm38) |
nonsense |
probably null |
|
|
R6031:Cpd
|
UTSW |
11 |
76,790,888 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6031:Cpd
|
UTSW |
11 |
76,790,888 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6103:Cpd
|
UTSW |
11 |
76,799,799 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6257:Cpd
|
UTSW |
11 |
76,812,670 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6263:Cpd
|
UTSW |
11 |
76,846,271 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6485:Cpd
|
UTSW |
11 |
76,808,707 (GRCm38) |
splice site |
probably null |
|
|
R6671:Cpd
|
UTSW |
11 |
76,795,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6995:Cpd
|
UTSW |
11 |
76,785,055 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7074:Cpd
|
UTSW |
11 |
76,813,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7192:Cpd
|
UTSW |
11 |
76,814,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7341:Cpd
|
UTSW |
11 |
76,846,953 (GRCm38) |
missense |
unknown |
|
|
R7371:Cpd
|
UTSW |
11 |
76,846,611 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7380:Cpd
|
UTSW |
11 |
76,802,325 (GRCm38) |
nonsense |
probably null |
|
|
R7392:Cpd
|
UTSW |
11 |
76,801,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7410:Cpd
|
UTSW |
11 |
76,782,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7509:Cpd
|
UTSW |
11 |
76,797,876 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7767:Cpd
|
UTSW |
11 |
76,813,559 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8935:Cpd
|
UTSW |
11 |
76,840,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9151:Cpd
|
UTSW |
11 |
76,784,449 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R9173:Cpd
|
UTSW |
11 |
76,808,823 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9310:Cpd
|
UTSW |
11 |
76,814,781 (GRCm38) |
nonsense |
probably null |
|
|
R9666:Cpd
|
UTSW |
11 |
76,802,307 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1088:Cpd
|
UTSW |
11 |
76,801,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATATAGGACAACAGTAGCTTGGG -3'
(R):5'- GGCTTCAGTATCCTATAAGTGGC -3'
Sequencing Primer
(F):5'- GACAACAGTAGCTTGGGAAAATC -3'
(R):5'- GATTCCTGGATTCCCTTGAACTAGAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation