Incidental Mutation 'R0267:Cped1'
| ID |
34991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
038493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0267 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22119475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 311
(F311L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115382]
[ENSMUST00000115383]
[ENSMUST00000153922]
|
| AlphaFold |
B2RX70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115382
AA Change: F311L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: F311L
| 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 |
probably damaging
Transcript: ENSMUST00000115383
AA Change: F311L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: F311L
| 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 damaging
Transcript: ENSMUST00000137437
AA Change: F173L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: F173L
| 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 |
probably benign
Transcript: ENSMUST00000153922
|
| SMART Domains |
Protein: ENSMUSP00000138562
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
|
130 |
142 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6404 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.7%
- 10x: 96.2%
- 20x: 94.0%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,105 (GRCm39) |
F1721S |
probably damaging |
Het |
| Adgrb1 |
G |
A |
15: 74,401,238 (GRCm39) |
R78H |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
| Adrb1 |
A |
T |
19: 56,711,923 (GRCm39) |
K374* |
probably null |
Het |
| Aldh18a1 |
C |
A |
19: 40,562,233 (GRCm39) |
V264F |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,358,551 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,236,979 (GRCm39) |
H393L |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,378,605 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,092,288 (GRCm39) |
Y297C |
probably damaging |
Het |
| Atxn2l |
T |
G |
7: 126,092,379 (GRCm39) |
Q950P |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,418,540 (GRCm39) |
D737V |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,496,939 (GRCm39) |
I212T |
probably benign |
Het |
| Ccdc63 |
A |
T |
5: 122,255,107 (GRCm39) |
|
probably benign |
Het |
| Chst1 |
C |
A |
2: 92,443,951 (GRCm39) |
P141Q |
probably damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,923,454 (GRCm39) |
H113Q |
probably benign |
Het |
| Dcn |
A |
T |
10: 97,342,345 (GRCm39) |
|
probably benign |
Het |
| Dmbx1 |
C |
T |
4: 115,775,309 (GRCm39) |
A324T |
probably benign |
Het |
| Dock10 |
G |
T |
1: 80,490,171 (GRCm39) |
Q1618K |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,710,921 (GRCm39) |
E443G |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,221,452 (GRCm39) |
V953A |
possibly damaging |
Het |
| Exosc10 |
T |
C |
4: 148,647,213 (GRCm39) |
L174P |
probably damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,365 (GRCm39) |
Y366C |
probably damaging |
Het |
| Fxyd3 |
T |
C |
7: 30,770,159 (GRCm39) |
|
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,335,867 (GRCm39) |
V189A |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,719,426 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,845,319 (GRCm39) |
T3A |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,366,839 (GRCm39) |
|
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,944,141 (GRCm39) |
L295S |
probably damaging |
Het |
| Hrh4 |
C |
A |
18: 13,155,455 (GRCm39) |
Y331* |
probably null |
Het |
| Hsd11b1 |
A |
T |
1: 192,923,705 (GRCm39) |
Y52N |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,017,701 (GRCm39) |
I29T |
probably benign |
Het |
| Kctd16 |
T |
A |
18: 40,663,930 (GRCm39) |
I353N |
probably benign |
Het |
| Lama4 |
G |
T |
10: 38,904,635 (GRCm39) |
G246C |
probably damaging |
Het |
| Lhx3 |
T |
A |
2: 26,093,040 (GRCm39) |
M137L |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,628,567 (GRCm39) |
I340T |
probably benign |
Het |
| Myo7a |
A |
C |
7: 97,703,831 (GRCm39) |
I1969S |
probably benign |
Het |
| Or14a258 |
T |
C |
7: 86,035,475 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or5b116 |
T |
A |
19: 13,422,792 (GRCm39) |
C139S |
probably damaging |
Het |
| Or6n1 |
A |
G |
1: 173,916,732 (GRCm39) |
N42S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,194 (GRCm39) |
L3232P |
unknown |
Het |
| Polr1a |
T |
G |
6: 71,951,123 (GRCm39) |
I1407M |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,656,722 (GRCm39) |
V817A |
probably damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,386,066 (GRCm39) |
T280A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,771,188 (GRCm39) |
D521G |
probably benign |
Het |
| Scn5a |
C |
T |
9: 119,372,201 (GRCm39) |
V223I |
probably damaging |
Het |
| Sgsm3 |
T |
G |
15: 80,890,803 (GRCm39) |
M119R |
probably damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,129,783 (GRCm39) |
M608L |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,339,673 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,723,561 (GRCm39) |
I440F |
probably benign |
Het |
| Syn2 |
T |
G |
6: 115,231,111 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tfb2m |
G |
A |
1: 179,361,203 (GRCm39) |
H262Y |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,333,426 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
C |
A |
19: 18,800,742 (GRCm39) |
P819T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,574,033 (GRCm39) |
A25620V |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,459,553 (GRCm39) |
|
probably null |
Het |
| Vars1 |
T |
C |
17: 35,230,572 (GRCm39) |
|
probably benign |
Het |
| Vip |
A |
T |
10: 5,594,004 (GRCm39) |
D119V |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 79,935,802 (GRCm39) |
I405T |
possibly damaging |
Het |
| Zbtb21 |
T |
A |
16: 97,753,300 (GRCm39) |
S356C |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,297,362 (GRCm39) |
S237T |
probably benign |
Het |
| Zfp142 |
G |
A |
1: 74,615,223 (GRCm39) |
A427V |
probably benign |
Het |
| Zfp692 |
T |
A |
11: 58,205,140 (GRCm39) |
V463E |
possibly damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,670,322 (GRCm39) |
I384N |
probably damaging |
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 |
|
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 |
|
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'- CCGTGTTGGGCACACAGCTTT -3'
(R):5'- tgtctttgtctGTCTCTTGCTCACCTAT -3'
Sequencing Primer
(F):5'- TGACTGATAGAGCCACATGTC -3'
(R):5'- tctGTCTCTTGCTCACCTATTGAAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation