Incidental Mutation 'R8888:Cped1'
| ID |
677479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
068692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8888 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 22016962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 104
(P104S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115382]
[ENSMUST00000115383]
[ENSMUST00000153922]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115382
AA Change: P104S
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: P104S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115383
AA Change: P104S
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: P104S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
Pfam:Cadherin-like
|
574 |
663 |
1e-9 |
PFAM |
|
Pfam:PC-Esterase
|
753 |
1018 |
2e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137437
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
Pfam:Cadherin-like
|
570 |
663 |
6.2e-12 |
PFAM |
|
Pfam:PC-Esterase
|
753 |
963 |
1.6e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153922
AA Change: P104S
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138562
Gene: ENSMUSG00000062980
AA Change: P104S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (78/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1a1 |
A |
G |
4: 116,498,260 (GRCm39) |
L95P |
probably damaging |
Het |
| Amigo2 |
G |
T |
15: 97,143,389 (GRCm39) |
N344K |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,014 (GRCm39) |
D946G |
possibly damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,338,568 (GRCm39) |
|
probably null |
Het |
| Atp8b5 |
A |
G |
4: 43,304,687 (GRCm39) |
N66S |
|
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,835,533 (GRCm39) |
S24N |
probably null |
Het |
| Bzw2 |
A |
T |
12: 36,173,982 (GRCm39) |
C97* |
probably null |
Het |
| Capn12 |
T |
A |
7: 28,585,949 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,330,971 (GRCm39) |
F34Y |
probably damaging |
Het |
| Cdh5 |
T |
C |
8: 104,852,092 (GRCm39) |
I69T |
possibly damaging |
Het |
| Celsr2 |
G |
A |
3: 108,320,880 (GRCm39) |
T644I |
possibly damaging |
Het |
| Cep85l |
A |
T |
10: 53,224,911 (GRCm39) |
L226Q |
possibly damaging |
Het |
| Clasp2 |
T |
A |
9: 113,732,936 (GRCm39) |
M924K |
possibly damaging |
Het |
| Col3a1 |
G |
A |
1: 45,379,139 (GRCm39) |
A850T |
unknown |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,910 (GRCm39) |
D104G |
possibly damaging |
Het |
| Daw1 |
T |
A |
1: 83,187,011 (GRCm39) |
C274S |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,850,144 (GRCm39) |
T267A |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,055,112 (GRCm39) |
Y585H |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,403,587 (GRCm39) |
I132V |
probably benign |
Het |
| Dpysl5 |
C |
T |
5: 30,902,687 (GRCm39) |
R40C |
probably benign |
Het |
| Dsg2 |
T |
G |
18: 20,723,126 (GRCm39) |
V384G |
probably damaging |
Het |
| Elmo1 |
C |
T |
13: 20,748,630 (GRCm39) |
L492F |
probably damaging |
Het |
| Epg5 |
C |
A |
18: 78,056,086 (GRCm39) |
D1753E |
possibly damaging |
Het |
| Ext1 |
T |
C |
15: 52,955,723 (GRCm39) |
Y458C |
probably damaging |
Het |
| Folr2 |
C |
T |
7: 101,489,408 (GRCm39) |
V244M |
unknown |
Het |
| Frmd6 |
C |
A |
12: 70,940,646 (GRCm39) |
H430Q |
possibly damaging |
Het |
| Galnt18 |
T |
C |
7: 111,378,709 (GRCm39) |
I16V |
possibly damaging |
Het |
| Gm10036 |
C |
A |
18: 15,966,207 (GRCm39) |
Y119* |
probably null |
Het |
| Gria4 |
A |
G |
9: 4,664,951 (GRCm39) |
S102P |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,890,861 (GRCm39) |
N1318K |
probably benign |
Het |
| Htr2a |
C |
T |
14: 74,882,617 (GRCm39) |
T201I |
possibly damaging |
Het |
| Ifitm1 |
T |
C |
7: 140,549,499 (GRCm39) |
L94P |
probably damaging |
Het |
| Iqca1l |
T |
C |
5: 24,755,628 (GRCm39) |
D298G |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
C |
T |
4: 98,653,747 (GRCm39) |
V894I |
possibly damaging |
Het |
| Kcnip2 |
T |
A |
19: 45,785,100 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,187,542 (GRCm39) |
L274H |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,352,953 (GRCm39) |
T885A |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,105,223 (GRCm39) |
K316E |
probably benign |
Het |
| Lipi |
A |
T |
16: 75,352,710 (GRCm39) |
L376I |
probably benign |
Het |
| Lrrc37 |
T |
A |
11: 103,509,656 (GRCm39) |
T771S |
unknown |
Het |
| Malrd1 |
A |
T |
2: 15,850,038 (GRCm39) |
N1219I |
unknown |
Het |
| Mrc1 |
A |
C |
2: 14,312,760 (GRCm39) |
N894T |
probably damaging |
Het |
| Mrpl35 |
C |
T |
6: 71,793,271 (GRCm39) |
A127T |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,325,644 (GRCm39) |
H88R |
probably benign |
Het |
| Nek5 |
C |
T |
8: 22,580,495 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
G |
A |
8: 95,252,118 (GRCm39) |
V1880I |
probably benign |
Het |
| Noc3l |
T |
A |
19: 38,798,751 (GRCm39) |
K282N |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,963,241 (GRCm39) |
Y942H |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,659 (GRCm39) |
V87A |
probably benign |
Het |
| Or4f62 |
G |
A |
2: 111,986,974 (GRCm39) |
R226H |
probably benign |
Het |
| Or52d1 |
T |
A |
7: 103,756,302 (GRCm39) |
I272N |
probably damaging |
Het |
| Osbpl9 |
C |
A |
4: 108,930,333 (GRCm39) |
A221S |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,566,801 (GRCm39) |
L45S |
probably benign |
Het |
| Pccb |
A |
T |
9: 100,905,305 (GRCm39) |
|
probably benign |
Het |
| Pgap3 |
A |
G |
11: 98,281,602 (GRCm39) |
F199L |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,676,092 (GRCm39) |
K79* |
probably null |
Het |
| Pou3f1 |
C |
G |
4: 124,552,152 (GRCm39) |
A218G |
possibly damaging |
Het |
| Ptk2b |
T |
A |
14: 66,412,242 (GRCm39) |
N383I |
probably benign |
Het |
| Rad52 |
C |
T |
6: 119,890,041 (GRCm39) |
R56C |
probably damaging |
Het |
| Rdh7 |
A |
T |
10: 127,724,430 (GRCm39) |
F18Y |
probably benign |
Het |
| Scart2 |
C |
T |
7: 139,841,532 (GRCm39) |
P279S |
possibly damaging |
Het |
| Septin5 |
A |
G |
16: 18,441,861 (GRCm39) |
M315T |
possibly damaging |
Het |
| Slc27a6 |
A |
G |
18: 58,715,306 (GRCm39) |
Y303C |
probably damaging |
Het |
| Slc7a7 |
T |
A |
14: 54,607,293 (GRCm39) |
M495L |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,748,074 (GRCm39) |
|
probably null |
Het |
| Spdye4a |
T |
G |
5: 143,211,418 (GRCm39) |
S49R |
probably benign |
Het |
| Spred2 |
T |
A |
11: 19,951,019 (GRCm39) |
I72N |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,495,386 (GRCm39) |
H962Q |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,475,452 (GRCm39) |
A484D |
possibly damaging |
Het |
| Syt14 |
A |
G |
1: 192,579,866 (GRCm39) |
S473P |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,724,255 (GRCm39) |
Y344H |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,157,049 (GRCm39) |
N411S |
probably benign |
Het |
| Ttf2 |
A |
T |
3: 100,870,028 (GRCm39) |
F348L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,663,650 (GRCm39) |
V11675E |
unknown |
Het |
| Usp2 |
G |
T |
9: 43,986,894 (GRCm39) |
R64L |
probably benign |
Het |
|
| Other mutations in Cped1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Cped1
|
APN |
6 |
22,215,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00909:Cped1
|
APN |
6 |
22,122,426 (GRCm39) |
splice site |
probably benign |
|
|
IGL01434:Cped1
|
APN |
6 |
22,017,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01572:Cped1
|
APN |
6 |
22,051,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02063:Cped1
|
APN |
6 |
22,138,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02216:Cped1
|
APN |
6 |
22,059,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Cped1
|
APN |
6 |
22,145,606 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02541:Cped1
|
APN |
6 |
22,120,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03008:Cped1
|
APN |
6 |
22,233,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03237:Cped1
|
APN |
6 |
22,233,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Cped1
|
UTSW |
6 |
22,222,449 (GRCm39) |
nonsense |
probably null |
|
|
PIT4812001:Cped1
|
UTSW |
6 |
22,122,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0048:Cped1
|
UTSW |
6 |
22,119,601 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0128:Cped1
|
UTSW |
6 |
22,121,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0130:Cped1
|
UTSW |
6 |
22,121,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Cped1
|
UTSW |
6 |
22,119,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0374:Cped1
|
UTSW |
6 |
22,222,545 (GRCm39) |
splice site |
probably benign |
|
|
R0482:Cped1
|
UTSW |
6 |
22,016,957 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0734:Cped1
|
UTSW |
6 |
22,085,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1033:Cped1
|
UTSW |
6 |
22,016,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1118:Cped1
|
UTSW |
6 |
22,237,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1181:Cped1
|
UTSW |
6 |
22,215,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1300:Cped1
|
UTSW |
6 |
22,119,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1485:Cped1
|
UTSW |
6 |
22,132,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1507:Cped1
|
UTSW |
6 |
22,122,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Cped1
|
UTSW |
6 |
22,237,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Cped1
|
UTSW |
6 |
22,085,014 (GRCm39) |
splice site |
probably null |
|
|
R1902:Cped1
|
UTSW |
6 |
22,120,980 (GRCm39) |
splice site |
probably null |
|
|
R1991:Cped1
|
UTSW |
6 |
22,233,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Cped1
|
UTSW |
6 |
22,143,963 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2883:Cped1
|
UTSW |
6 |
22,143,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3011:Cped1
|
UTSW |
6 |
22,088,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Cped1
|
UTSW |
6 |
22,123,651 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4668:Cped1
|
UTSW |
6 |
22,237,652 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4808:Cped1
|
UTSW |
6 |
22,088,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Cped1
|
UTSW |
6 |
22,143,951 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5417:Cped1
|
UTSW |
6 |
22,233,579 (GRCm39) |
missense |
probably null |
0.01 |
|
R5741:Cped1
|
UTSW |
6 |
22,123,620 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5821:Cped1
|
UTSW |
6 |
22,138,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5977:Cped1
|
UTSW |
6 |
22,254,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Cped1
|
UTSW |
6 |
22,138,714 (GRCm39) |
splice site |
probably null |
|
|
R6304:Cped1
|
UTSW |
6 |
22,016,922 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6416:Cped1
|
UTSW |
6 |
22,123,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:Cped1
|
UTSW |
6 |
21,986,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6617:Cped1
|
UTSW |
6 |
22,215,546 (GRCm39) |
nonsense |
probably null |
|
|
R6650:Cped1
|
UTSW |
6 |
22,233,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Cped1
|
UTSW |
6 |
22,119,469 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7083:Cped1
|
UTSW |
6 |
22,123,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7234:Cped1
|
UTSW |
6 |
22,254,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7387:Cped1
|
UTSW |
6 |
22,059,933 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7493:Cped1
|
UTSW |
6 |
22,215,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7720:Cped1
|
UTSW |
6 |
22,222,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Cped1
|
UTSW |
6 |
22,143,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7966:Cped1
|
UTSW |
6 |
22,059,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8113:Cped1
|
UTSW |
6 |
22,233,480 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8186:Cped1
|
UTSW |
6 |
22,123,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8215:Cped1
|
UTSW |
6 |
22,132,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8265:Cped1
|
UTSW |
6 |
22,222,426 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8280:Cped1
|
UTSW |
6 |
21,986,820 (GRCm39) |
missense |
unknown |
|
|
R8286:Cped1
|
UTSW |
6 |
22,254,601 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8393:Cped1
|
UTSW |
6 |
22,222,465 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8503:Cped1
|
UTSW |
6 |
22,145,564 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8725:Cped1
|
UTSW |
6 |
22,059,941 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8727:Cped1
|
UTSW |
6 |
22,059,941 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8852:Cped1
|
UTSW |
6 |
22,215,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Cped1
|
UTSW |
6 |
22,119,578 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8983:Cped1
|
UTSW |
6 |
22,138,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Cped1
|
UTSW |
6 |
21,987,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Cped1
|
UTSW |
6 |
21,987,045 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTCACCTTCAGTGCCTG -3'
(R):5'- GCATTGCTCATATGTCGAGTAAC -3'
Sequencing Primer
(F):5'- CAGGGTTCTAGTGTTTCATCCCTAG -3'
(R):5'- GCTCATATGTCGAGTAACTTTGAGAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation