Incidental Mutation 'R2339:Cilp2'
| ID |
246675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cilp2
|
| Ensembl Gene |
ENSMUSG00000044006 |
| Gene Name |
cartilage intermediate layer protein 2 |
| Synonyms |
1110031K21Rik, CLIP-2 |
| MMRRC Submission |
040325-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2339 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70333016-70340042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70335544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 485
(S485T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057831]
[ENSMUST00000152938]
[ENSMUST00000180068]
|
| AlphaFold |
D3Z7H8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057831
AA Change: S485T
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000061544
Gene: ENSMUSG00000044006
AA Change: S485T
| 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 |
|
| Meta Mutation Damage Score |
0.0627 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
C |
11: 84,402,323 (GRCm39) |
D121G |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,100,023 (GRCm39) |
D358E |
probably benign |
Het |
| Cux1 |
A |
C |
5: 136,315,862 (GRCm39) |
S1059R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,314,028 (GRCm39) |
D1948G |
probably benign |
Het |
| Fyn |
A |
G |
10: 39,398,781 (GRCm39) |
T126A |
probably benign |
Het |
| Gm10134 |
C |
T |
2: 28,396,141 (GRCm39) |
S12F |
probably benign |
Het |
| Grm7 |
T |
C |
6: 111,472,642 (GRCm39) |
I827T |
possibly damaging |
Het |
| H1f4 |
T |
C |
13: 23,805,943 (GRCm39) |
|
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,341,336 (GRCm39) |
|
probably null |
Het |
| Helt |
T |
C |
8: 46,745,709 (GRCm39) |
N58S |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,543 (GRCm39) |
Y68H |
probably benign |
Het |
| Myof |
G |
T |
19: 37,926,375 (GRCm39) |
H1127N |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,412,593 (GRCm39) |
I971L |
probably benign |
Het |
| Or4k39 |
C |
T |
2: 111,239,534 (GRCm39) |
T258I |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,883,180 (GRCm39) |
R882H |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,756,102 (GRCm39) |
|
probably benign |
Het |
| Pparg |
G |
T |
6: 115,428,005 (GRCm39) |
R164L |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,150,725 (GRCm39) |
N464Y |
possibly damaging |
Het |
| Ric8b |
T |
C |
10: 84,805,888 (GRCm39) |
V333A |
probably benign |
Het |
| Sall2 |
G |
A |
14: 52,550,813 (GRCm39) |
S792L |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,383 (GRCm39) |
L87F |
probably damaging |
Het |
| Sox12 |
A |
G |
2: 152,238,958 (GRCm39) |
S221P |
possibly damaging |
Het |
| Tpr |
T |
A |
1: 150,289,525 (GRCm39) |
S619T |
probably benign |
Het |
| Trdmt1 |
G |
A |
2: 13,524,871 (GRCm39) |
Q195* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,750,640 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Upf2 |
A |
T |
2: 6,044,913 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,710,389 (GRCm39) |
T704I |
probably benign |
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 |
|
R0842:Cilp2
|
UTSW |
8 |
70,335,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- ACGAAAGTGACACGAGCCTC -3'
(R):5'- CTGATCAAGCTTCCGGACGATTG -3'
Sequencing Primer
(F):5'- GCGTCCAACAGCACTGC -3'
(R):5'- ACGTACCTAGACGTGGGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation