Incidental Mutation 'R6416:Cped1'
| ID |
517921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cped1
|
| Ensembl Gene |
ENSMUSG00000062980 |
| Gene Name |
cadherin-like and PC-esterase domain containing 1 |
| Synonyms |
A430107O13Rik |
| MMRRC Submission |
044558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
21985915-22256403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22123648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 467
(F467S)
|
| 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: F467S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: F467S
| 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: F467S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: F467S
| 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 |
unknown
Transcript: ENSMUST00000137437
AA Change: F329S
|
| SMART Domains |
Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: F329S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.4%
- 20x: 94.6%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
C |
A |
16: 88,504,779 (GRCm39) |
R6L |
unknown |
Het |
| Anxa11 |
A |
G |
14: 25,874,694 (GRCm39) |
Q235R |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,199,065 (GRCm39) |
M1K |
probably null |
Het |
| Atl2 |
G |
A |
17: 80,157,652 (GRCm39) |
T563I |
probably benign |
Het |
| Azin1 |
A |
T |
15: 38,492,587 (GRCm39) |
S307R |
possibly damaging |
Het |
| Ccdc153 |
A |
G |
9: 44,157,077 (GRCm39) |
T118A |
probably benign |
Het |
| Chac1 |
G |
A |
2: 119,184,015 (GRCm39) |
V206I |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,927,698 (GRCm39) |
V446A |
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,536,956 (GRCm39) |
P82L |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,430,984 (GRCm39) |
S840T |
probably benign |
Het |
| Ddx60 |
C |
T |
8: 62,451,715 (GRCm39) |
H1202Y |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,984,609 (GRCm39) |
N3102K |
probably benign |
Het |
| Dst |
A |
T |
1: 34,155,209 (GRCm39) |
K85M |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,768,785 (GRCm39) |
I839M |
probably benign |
Het |
| Fam184b |
T |
A |
5: 45,694,995 (GRCm39) |
M750L |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,479,799 (GRCm39) |
T1965A |
probably benign |
Het |
| Ftl1 |
A |
T |
7: 45,108,634 (GRCm39) |
D41E |
probably benign |
Het |
| Garem2 |
G |
A |
5: 30,321,735 (GRCm39) |
W698* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,488,740 (GRCm39) |
Y283C |
probably damaging |
Het |
| Hars1 |
T |
C |
18: 36,906,643 (GRCm39) |
E109G |
possibly damaging |
Het |
| Hspb9 |
T |
C |
11: 100,605,036 (GRCm39) |
S121P |
probably damaging |
Het |
| Hus1b |
A |
T |
13: 31,131,188 (GRCm39) |
L157Q |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,853,643 (GRCm39) |
M322V |
probably benign |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,848,131 (GRCm39) |
M116L |
probably benign |
Het |
| Kif22 |
T |
C |
7: 126,628,104 (GRCm39) |
K9E |
possibly damaging |
Het |
| Krt90 |
T |
C |
15: 101,467,679 (GRCm39) |
E233G |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,090,307 (GRCm39) |
M81V |
probably benign |
Het |
| Mocos |
C |
T |
18: 24,834,513 (GRCm39) |
S850L |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,059,713 (GRCm39) |
S1364T |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,075,340 (GRCm39) |
N208K |
probably benign |
Het |
| Oca2 |
G |
T |
7: 55,978,515 (GRCm39) |
R561L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 103,803,260 (GRCm39) |
L401P |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,971 (GRCm39) |
Y291* |
probably null |
Het |
| Or2t49 |
T |
C |
11: 58,393,166 (GRCm39) |
D72G |
probably damaging |
Het |
| Or4a39 |
C |
A |
2: 89,236,866 (GRCm39) |
A186S |
possibly damaging |
Het |
| Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
| Or8g33 |
T |
A |
9: 39,338,187 (GRCm39) |
Y60F |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,259,860 (GRCm39) |
N116D |
probably damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,145,222 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,176,186 (GRCm39) |
I418V |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,529,909 (GRCm39) |
V62A |
probably benign |
Het |
| Pkib |
T |
A |
10: 57,604,234 (GRCm39) |
V46E |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,455,598 (GRCm39) |
|
probably null |
Het |
| Rbak |
G |
T |
5: 143,162,307 (GRCm39) |
Q19K |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,781,959 (GRCm39) |
T32A |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,043,617 (GRCm39) |
W835R |
probably damaging |
Het |
| Sis |
T |
G |
3: 72,819,187 (GRCm39) |
K1456N |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,327,588 (GRCm39) |
N675I |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,362,401 (GRCm39) |
M139I |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,791,198 (GRCm39) |
F1182S |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,621,669 (GRCm39) |
I96N |
probably damaging |
Het |
| Stx19 |
T |
C |
16: 62,642,420 (GRCm39) |
S79P |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,286,563 (GRCm39) |
V698M |
probably damaging |
Het |
| Timm22 |
T |
C |
11: 76,301,965 (GRCm39) |
S150P |
probably damaging |
Het |
| Tjp1 |
C |
T |
7: 64,962,953 (GRCm39) |
D995N |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 88,797,002 (GRCm39) |
T365S |
probably benign |
Het |
| Tmem174 |
T |
C |
13: 98,773,489 (GRCm39) |
T114A |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,926,053 (GRCm39) |
I909T |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,148,613 (GRCm39) |
I62V |
possibly damaging |
Het |
| Tulp1 |
A |
T |
17: 28,575,005 (GRCm39) |
*487K |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,097,905 (GRCm39) |
V1826E |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,321,982 (GRCm39) |
N238K |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,614,697 (GRCm39) |
N298Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,689,861 (GRCm39) |
F246I |
probably damaging |
Het |
| Vps9d1 |
A |
C |
8: 123,975,378 (GRCm39) |
V194G |
probably damaging |
Het |
| Zfp260 |
A |
T |
7: 29,804,235 (GRCm39) |
H45L |
possibly damaging |
Het |
| Zfp846 |
A |
T |
9: 20,505,016 (GRCm39) |
H292L |
possibly 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 |
|
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 |
|
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'- AGATGGTTGACTGGTTCCAAG -3'
(R):5'- CAGCTACTGTGATGTCATACCC -3'
Sequencing Primer
(F):5'- GACTGGTTCCAAGTCACTTAATGC -3'
(R):5'- AGCTACTGTGATGTCATACCCTTTAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation