Incidental Mutation 'R5684:Colec12'
| ID |
443254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Colec12
|
| Ensembl Gene |
ENSMUSG00000036103 |
| Gene Name |
collectin sub-family member 12 |
| Synonyms |
CL-P1, Scara4, SRCL |
| MMRRC Submission |
043178-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
R5684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
9707648-9877995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9849009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 396
(S396P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040069]
|
| AlphaFold |
Q8K4Q8 |
| PDB Structure |
Mouse Scavenger Receptor C-type Lectin carbohydrate-recognition domain. [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040069
AA Change: S396P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: S396P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
coiled coil region
|
112 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
217 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
441 |
499 |
1.4e-10 |
PFAM |
|
Pfam:Collagen
|
482 |
548 |
9.6e-10 |
PFAM |
|
Pfam:Collagen
|
530 |
591 |
3.8e-11 |
PFAM |
|
CLECT
|
607 |
731 |
4.19e-36 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,017,621 (GRCm39) |
D144G |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,685,939 (GRCm39) |
T172A |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,519 (GRCm39) |
F371L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,664,005 (GRCm39) |
F555L |
probably damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,821,076 (GRCm39) |
V336A |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,778,455 (GRCm39) |
N85S |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,270,172 (GRCm39) |
S278P |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,948,465 (GRCm39) |
C561S |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,496,299 (GRCm39) |
K637R |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,853 (GRCm39) |
S1130P |
probably benign |
Het |
| H2-M10.6 |
A |
T |
17: 37,124,746 (GRCm39) |
N221I |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,184,423 (GRCm39) |
K100I |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,660 (GRCm39) |
D144G |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,888 (GRCm39) |
Q545L |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Or13c7d |
T |
C |
4: 43,770,624 (GRCm39) |
N129S |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,279 (GRCm39) |
Y152* |
probably null |
Het |
| Or5p64 |
A |
T |
7: 107,855,246 (GRCm39) |
I33N |
possibly damaging |
Het |
| Pidd1 |
A |
T |
7: 141,021,024 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,089,796 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,905,346 (GRCm39) |
A1080V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,151 (GRCm39) |
S564T |
possibly damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,004,154 (GRCm39) |
K104E |
probably damaging |
Het |
| Rad54l |
T |
A |
4: 115,957,760 (GRCm39) |
K407M |
probably damaging |
Het |
| Sfn |
T |
A |
4: 133,328,603 (GRCm39) |
K160* |
probably null |
Het |
| Slc22a15 |
A |
G |
3: 101,770,271 (GRCm39) |
S439P |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,715,681 (GRCm39) |
V273D |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,937,561 (GRCm39) |
F471S |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,629,235 (GRCm39) |
E896G |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,418,671 (GRCm39) |
R717Q |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,984 (GRCm39) |
E779G |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,423,706 (GRCm39) |
S400P |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,129 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn2r103 |
T |
G |
17: 20,013,251 (GRCm39) |
I124S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,676,409 (GRCm39) |
M1188K |
probably benign |
Het |
| Vtn |
G |
A |
11: 78,391,384 (GRCm39) |
G266S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,553 (GRCm39) |
S640P |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,288,214 (GRCm39) |
M874K |
probably benign |
Het |
|
| Other mutations in Colec12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01099:Colec12
|
APN |
18 |
9,848,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Colec12
|
APN |
18 |
9,859,858 (GRCm39) |
missense |
unknown |
|
|
R0128:Colec12
|
UTSW |
18 |
9,858,921 (GRCm39) |
missense |
unknown |
|
|
R0130:Colec12
|
UTSW |
18 |
9,858,921 (GRCm39) |
missense |
unknown |
|
|
R0178:Colec12
|
UTSW |
18 |
9,858,921 (GRCm39) |
missense |
unknown |
|
|
R0179:Colec12
|
UTSW |
18 |
9,858,921 (GRCm39) |
missense |
unknown |
|
|
R0180:Colec12
|
UTSW |
18 |
9,858,921 (GRCm39) |
missense |
unknown |
|
|
R0180:Colec12
|
UTSW |
18 |
9,848,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0318:Colec12
|
UTSW |
18 |
9,848,446 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0344:Colec12
|
UTSW |
18 |
9,858,921 (GRCm39) |
missense |
unknown |
|
|
R0573:Colec12
|
UTSW |
18 |
9,858,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1028:Colec12
|
UTSW |
18 |
9,866,837 (GRCm39) |
missense |
unknown |
|
|
R1693:Colec12
|
UTSW |
18 |
9,866,765 (GRCm39) |
missense |
unknown |
|
|
R1951:Colec12
|
UTSW |
18 |
9,859,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2008:Colec12
|
UTSW |
18 |
9,874,813 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2181:Colec12
|
UTSW |
18 |
9,846,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4258:Colec12
|
UTSW |
18 |
9,720,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Colec12
|
UTSW |
18 |
9,848,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5269:Colec12
|
UTSW |
18 |
9,846,825 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5369:Colec12
|
UTSW |
18 |
9,866,750 (GRCm39) |
missense |
unknown |
|
|
R5421:Colec12
|
UTSW |
18 |
9,858,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5608:Colec12
|
UTSW |
18 |
9,848,267 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5668:Colec12
|
UTSW |
18 |
9,848,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Colec12
|
UTSW |
18 |
9,840,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Colec12
|
UTSW |
18 |
9,848,248 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7253:Colec12
|
UTSW |
18 |
9,848,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Colec12
|
UTSW |
18 |
9,876,980 (GRCm39) |
splice site |
probably null |
|
|
R9365:Colec12
|
UTSW |
18 |
9,848,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Colec12
|
UTSW |
18 |
9,877,000 (GRCm39) |
missense |
unknown |
|
|
Z1088:Colec12
|
UTSW |
18 |
9,848,727 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTTCCAGGTCTTTGAG -3'
(R):5'- AGCTTACAAATGGTTTCCATCTTTCT -3'
Sequencing Primer
(F):5'- AGACAGATATTGTGAACATCATTAGC -3'
(R):5'- AACCTGTCAAGCCTTCAGATGTTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation