Incidental Mutation 'R0842:Cilp2'
| ID |
77216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cilp2
|
| Ensembl Gene |
ENSMUSG00000044006 |
| Gene Name |
cartilage intermediate layer protein 2 |
| Synonyms |
1110031K21Rik, CLIP-2 |
| MMRRC Submission |
039021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70333016-70340042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70335768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 410
(Y410C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057831]
[ENSMUST00000152938]
[ENSMUST00000180068]
|
| AlphaFold |
D3Z7H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057831
AA Change: Y410C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061544
Gene: ENSMUSG00000044006
AA Change: Y410C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Mucin2_WxxW
|
58 |
143 |
2.5e-22 |
PFAM |
|
TSP1
|
149 |
197 |
1.33e-9 |
SMART |
|
Pfam:CarboxypepD_reg
|
210 |
288 |
4.5e-10 |
PFAM |
|
IGc2
|
305 |
367 |
2.52e-9 |
SMART |
|
low complexity region
|
472 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152938
|
| SMART Domains |
Protein: ENSMUSP00000118931
Gene: ENSMUSG00000048967
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
Pfam:YjeF_N
|
17 |
187 |
5.1e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180068
|
| SMART Domains |
Protein: ENSMUSP00000136145
Gene: ENSMUSG00000048967
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YjeF_N
|
2 |
159 |
8.8e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl8 |
C |
A |
9: 21,746,972 (GRCm39) |
Y53* |
probably null |
Het |
| Apbb1ip |
G |
A |
2: 22,757,678 (GRCm39) |
R432Q |
possibly damaging |
Het |
| Catsperb |
A |
T |
12: 101,429,307 (GRCm39) |
Q160L |
probably damaging |
Het |
| Cdhr18 |
G |
A |
14: 13,856,686 (GRCm38) |
S475L |
probably benign |
Het |
| Cntnap5a |
G |
A |
1: 116,369,953 (GRCm39) |
G857S |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,125,400 (GRCm39) |
V1538E |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,540,833 (GRCm39) |
S2514P |
possibly damaging |
Het |
| Eme1 |
C |
T |
11: 94,541,700 (GRCm39) |
A41T |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fap |
A |
T |
2: 62,367,345 (GRCm39) |
W313R |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Ggt6 |
T |
A |
11: 72,328,088 (GRCm39) |
L158* |
probably null |
Het |
| Herc2 |
A |
C |
7: 55,771,453 (GRCm39) |
I1072L |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,408,639 (GRCm39) |
N164S |
probably benign |
Het |
| Klrb1 |
A |
G |
6: 128,687,008 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
T |
A |
17: 68,793,957 (GRCm39) |
D320E |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,852,826 (GRCm39) |
Y2275* |
probably null |
Het |
| Map4k3 |
T |
C |
17: 80,913,412 (GRCm39) |
N611S |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,670,284 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
C |
13: 12,215,133 (GRCm39) |
Y864D |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,070,350 (GRCm39) |
A431V |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,778,350 (GRCm39) |
Q1369K |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,820,114 (GRCm39) |
D302V |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,649 (GRCm39) |
I176T |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,948,380 (GRCm39) |
T54I |
probably benign |
Het |
| Nfyc |
C |
A |
4: 120,616,574 (GRCm39) |
E281D |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,782,342 (GRCm39) |
D513G |
probably benign |
Het |
| Pacsin2 |
T |
C |
15: 83,263,382 (GRCm39) |
E83G |
probably damaging |
Het |
| Plagl1 |
G |
T |
10: 13,004,298 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,772 (GRCm39) |
L340P |
possibly damaging |
Het |
| Pou2af3 |
T |
C |
9: 51,183,668 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 24,796,355 (GRCm39) |
L364Q |
probably damaging |
Het |
| Rab1b |
A |
T |
19: 5,154,697 (GRCm39) |
I84N |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 108,638,087 (GRCm39) |
Y222C |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,965,251 (GRCm39) |
V188A |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,527,426 (GRCm39) |
H107Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,575 (GRCm39) |
I335K |
possibly damaging |
Het |
| Thoc2l |
T |
A |
5: 104,667,066 (GRCm39) |
N529K |
possibly damaging |
Het |
| Thop1 |
C |
A |
10: 80,911,411 (GRCm39) |
T99K |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,648,235 (GRCm39) |
E429G |
possibly damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,488,465 (GRCm39) |
I645F |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 120,991,960 (GRCm39) |
R609S |
possibly damaging |
Het |
|
| Other mutations in Cilp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Cilp2
|
APN |
8 |
70,335,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01538:Cilp2
|
APN |
8 |
70,333,854 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02063:Cilp2
|
APN |
8 |
70,335,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Cilp2
|
APN |
8 |
70,333,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Cilp2
|
APN |
8 |
70,336,970 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0308:Cilp2
|
UTSW |
8 |
70,335,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0371:Cilp2
|
UTSW |
8 |
70,334,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Cilp2
|
UTSW |
8 |
70,335,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0414:Cilp2
|
UTSW |
8 |
70,335,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0470:Cilp2
|
UTSW |
8 |
70,338,055 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0838:Cilp2
|
UTSW |
8 |
70,334,369 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1807:Cilp2
|
UTSW |
8 |
70,334,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Cilp2
|
UTSW |
8 |
70,333,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Cilp2
|
UTSW |
8 |
70,334,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Cilp2
|
UTSW |
8 |
70,335,442 (GRCm39) |
nonsense |
probably null |
|
|
R2339:Cilp2
|
UTSW |
8 |
70,335,544 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4572:Cilp2
|
UTSW |
8 |
70,335,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Cilp2
|
UTSW |
8 |
70,336,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5923:Cilp2
|
UTSW |
8 |
70,335,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6113:Cilp2
|
UTSW |
8 |
70,335,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6958:Cilp2
|
UTSW |
8 |
70,335,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7108:Cilp2
|
UTSW |
8 |
70,333,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Cilp2
|
UTSW |
8 |
70,336,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Cilp2
|
UTSW |
8 |
70,333,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Cilp2
|
UTSW |
8 |
70,338,682 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7736:Cilp2
|
UTSW |
8 |
70,334,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Cilp2
|
UTSW |
8 |
70,334,997 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8924:Cilp2
|
UTSW |
8 |
70,339,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9444:Cilp2
|
UTSW |
8 |
70,335,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cilp2
|
UTSW |
8 |
70,338,060 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Cilp2
|
UTSW |
8 |
70,337,196 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Cilp2
|
UTSW |
8 |
70,337,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cilp2
|
UTSW |
8 |
70,335,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTGTCTACGAAGTCTCCACTC -3'
(R):5'- CCCATGATGCTGTACACTTACTGCC -3'
Sequencing Primer
(F):5'- TATCCTGGCGAAACGCAG -3'
(R):5'- TCTTCAGGTTCCACAACGGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation