Incidental Mutation 'R1485:Cped1'
| ID |
163395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
039538-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1485 (G1)
|
| Quality Score |
167 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 22132387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115383]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115383
|
| SMART Domains |
Protein: ENSMUSP00000111041
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
|
574 |
663 |
1e-9 |
PFAM |
|
Pfam:PC-Esterase
|
753 |
1018 |
2e-26 |
PFAM |
|
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000154734
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,727,738 (GRCm39) |
S301P |
probably damaging |
Het |
| AI987944 |
C |
A |
7: 41,023,954 (GRCm39) |
G342* |
probably null |
Het |
| Alox5 |
A |
T |
6: 116,401,125 (GRCm39) |
F212I |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,896,105 (GRCm39) |
D322E |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,275,009 (GRCm39) |
Y355* |
probably null |
Het |
| Bloc1s6 |
T |
G |
2: 122,588,063 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,176,406 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,165,972 (GRCm39) |
L240Q |
probably damaging |
Het |
| Ccdc77 |
G |
A |
6: 120,315,101 (GRCm39) |
Q183* |
probably null |
Het |
| Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Coch |
G |
T |
12: 51,645,072 (GRCm39) |
V209F |
probably damaging |
Het |
| Cops3 |
G |
A |
11: 59,718,715 (GRCm39) |
T193M |
possibly damaging |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,067 (GRCm39) |
S77C |
unknown |
Het |
| Defb7 |
A |
G |
8: 19,545,110 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,590,603 (GRCm39) |
|
probably null |
Het |
| Entpd6 |
T |
A |
2: 150,610,843 (GRCm39) |
|
probably null |
Het |
| Evc2 |
C |
T |
5: 37,527,900 (GRCm39) |
A303V |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,430 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,712,676 (GRCm39) |
F54I |
probably benign |
Het |
| Gm7104 |
C |
A |
12: 88,252,333 (GRCm39) |
|
noncoding transcript |
Het |
| Grid1 |
A |
T |
14: 34,544,540 (GRCm39) |
D37V |
probably damaging |
Het |
| Icam5 |
G |
A |
9: 20,947,702 (GRCm39) |
A560T |
probably benign |
Het |
| Igf2r |
A |
C |
17: 12,910,172 (GRCm39) |
I2019S |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,929 (GRCm39) |
V65A |
probably benign |
Het |
| Kif3b |
T |
C |
2: 153,164,851 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
G |
9: 44,738,225 (GRCm39) |
|
probably benign |
Het |
| Marchf6 |
T |
A |
15: 31,498,839 (GRCm39) |
T153S |
probably damaging |
Het |
| Mcam |
T |
A |
9: 44,048,060 (GRCm39) |
I72N |
probably damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,224,785 (GRCm39) |
|
noncoding transcript |
Het |
| Nkain3 |
T |
C |
4: 20,484,932 (GRCm39) |
I48M |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,737,504 (GRCm39) |
I107N |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,007,573 (GRCm39) |
H441R |
probably benign |
Het |
| Nr1d1 |
G |
A |
11: 98,661,187 (GRCm39) |
R360C |
probably benign |
Het |
| Or56a5 |
A |
G |
7: 104,792,888 (GRCm39) |
I210T |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,763,793 (GRCm39) |
S4089P |
unknown |
Het |
| Pi4kb |
A |
G |
3: 94,901,698 (GRCm39) |
E455G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,208,788 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,016,908 (GRCm39) |
V283A |
possibly damaging |
Het |
| Pramel12 |
G |
A |
4: 143,144,188 (GRCm39) |
R178Q |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,426,401 (GRCm39) |
I815T |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,127,653 (GRCm39) |
D202E |
probably benign |
Het |
| Septin14 |
C |
T |
5: 129,770,118 (GRCm39) |
A193T |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,876,370 (GRCm39) |
S112G |
probably benign |
Het |
| Siah3 |
T |
A |
14: 75,762,994 (GRCm39) |
Y82N |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,250,853 (GRCm39) |
S425P |
probably damaging |
Het |
| Slc9a2 |
C |
T |
1: 40,765,548 (GRCm39) |
L313F |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,230,433 (GRCm39) |
V50A |
probably benign |
Het |
| Spata31e2 |
T |
G |
1: 26,724,961 (GRCm39) |
K73T |
possibly damaging |
Het |
| Supt3 |
G |
A |
17: 45,347,607 (GRCm39) |
A197T |
probably benign |
Het |
| Tex10 |
A |
G |
4: 48,436,492 (GRCm39) |
I742T |
possibly damaging |
Het |
| Tex44 |
T |
A |
1: 86,355,640 (GRCm39) |
H516Q |
possibly damaging |
Het |
| Tfdp1 |
T |
G |
8: 13,420,917 (GRCm39) |
D171E |
probably damaging |
Het |
| Trim31 |
A |
C |
17: 37,209,568 (GRCm39) |
D108A |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,791,579 (GRCm39) |
N135S |
probably benign |
Het |
| Uso1 |
G |
A |
5: 92,328,422 (GRCm39) |
V340I |
possibly damaging |
Het |
| Utp6 |
A |
C |
11: 79,839,749 (GRCm39) |
V313G |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,109 (GRCm39) |
V554A |
possibly damaging |
Het |
| Xdh |
C |
A |
17: 74,221,014 (GRCm39) |
E572* |
probably null |
Het |
| Zbtb7c |
T |
C |
18: 76,270,061 (GRCm39) |
S50P |
probably damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,395 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,791,635 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8888:Cped1
|
UTSW |
6 |
22,016,962 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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'- TGTTACCCTCCCAGCTCGTGACCAG -3'
(R):5'- ACAGGGTCTGATGACCACCAGAACC -3'
Sequencing Primer
(F):5'- AACTGATCTGTTTTGTTCTGCTAATG -3'
(R):5'- CCATTATGGTTTCAGTGCTTGAAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation