Incidental Mutation 'R6328:Col6a2'
| ID |
510817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a2
|
| Ensembl Gene |
ENSMUSG00000020241 |
| Gene Name |
collagen, type VI, alpha 2 |
| Synonyms |
Col6a-2 |
| MMRRC Submission |
044482-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
76431596-76459464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76450212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 240
(E240K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001181]
[ENSMUST00000105413]
|
| AlphaFold |
Q02788 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001181
AA Change: E240K
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: E240K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
VWA
|
59 |
246 |
9.55e-29 |
SMART |
|
Pfam:Collagen
|
269 |
329 |
3.3e-11 |
PFAM |
|
Pfam:Collagen
|
317 |
383 |
6.2e-10 |
PFAM |
|
Pfam:Collagen
|
366 |
430 |
2.2e-8 |
PFAM |
|
Pfam:Collagen
|
424 |
483 |
1.7e-9 |
PFAM |
|
low complexity region
|
502 |
517 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
546 |
605 |
1.1e-9 |
PFAM |
|
VWA
|
628 |
816 |
7.51e-36 |
SMART |
|
VWA
|
846 |
1029 |
3.97e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105413
AA Change: E240K
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: E240K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
VWA
|
59 |
246 |
9.55e-29 |
SMART |
|
Pfam:Collagen
|
269 |
330 |
5.2e-12 |
PFAM |
|
Pfam:Collagen
|
316 |
384 |
6.1e-10 |
PFAM |
|
Pfam:Collagen
|
364 |
431 |
1.4e-8 |
PFAM |
|
Pfam:Collagen
|
424 |
483 |
5.3e-10 |
PFAM |
|
Pfam:Collagen
|
475 |
542 |
3.3e-9 |
PFAM |
|
Pfam:Collagen
|
531 |
605 |
7.4e-8 |
PFAM |
|
VWA
|
628 |
816 |
7.51e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137365
|
| Meta Mutation Damage Score |
0.1172 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit reduced body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
G |
A |
8: 124,688,756 (GRCm39) |
R507W |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,238,586 (GRCm39) |
D80G |
possibly damaging |
Het |
| Actr5 |
A |
G |
2: 158,477,264 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,984,512 (GRCm39) |
T1932I |
probably benign |
Het |
| Ankk1 |
T |
A |
9: 49,327,371 (GRCm39) |
T603S |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,155,053 (GRCm39) |
F964I |
probably damaging |
Het |
| Atp6v1g3 |
A |
G |
1: 138,215,570 (GRCm39) |
T77A |
probably benign |
Het |
| Bccip |
A |
G |
7: 133,319,503 (GRCm39) |
H198R |
probably damaging |
Het |
| Bsx |
A |
T |
9: 40,785,519 (GRCm39) |
R16W |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,826,406 (GRCm39) |
R1103Q |
probably damaging |
Het |
| Cd59a |
A |
C |
2: 103,941,103 (GRCm39) |
Y27S |
probably damaging |
Het |
| Cdk20 |
A |
G |
13: 64,584,413 (GRCm39) |
H162R |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,814,634 (GRCm39) |
V603A |
possibly damaging |
Het |
| Dgkz |
A |
G |
2: 91,772,980 (GRCm39) |
V359A |
probably benign |
Het |
| Dis3l2 |
T |
A |
1: 86,782,153 (GRCm39) |
S223T |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,679,734 (GRCm39) |
S535G |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,982 (GRCm39) |
K1977* |
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,165,717 (GRCm39) |
S515T |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,072,179 (GRCm39) |
E2397G |
possibly damaging |
Het |
| Fam83d |
G |
A |
2: 158,627,096 (GRCm39) |
G262S |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,595,509 (GRCm39) |
T477S |
probably damaging |
Het |
| Gbp3 |
A |
G |
3: 142,274,819 (GRCm39) |
E382G |
probably benign |
Het |
| Gltp |
A |
T |
5: 114,808,572 (GRCm39) |
C157S |
possibly damaging |
Het |
| Grb10 |
A |
G |
11: 11,887,905 (GRCm39) |
S378P |
probably damaging |
Het |
| Gulo |
G |
T |
14: 66,240,080 (GRCm39) |
T126K |
probably damaging |
Het |
| H2-M10.6 |
T |
A |
17: 37,124,836 (GRCm39) |
M251K |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,422,205 (GRCm39) |
D967G |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,858,933 (GRCm39) |
D68E |
probably damaging |
Het |
| Igkv5-39 |
G |
T |
6: 69,877,489 (GRCm39) |
S89* |
probably null |
Het |
| Kctd4 |
C |
A |
14: 76,200,037 (GRCm39) |
|
probably benign |
Het |
| Lmna |
T |
C |
3: 88,393,813 (GRCm39) |
Q255R |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,656 (GRCm39) |
I82T |
possibly damaging |
Het |
| Lyg2 |
T |
A |
1: 37,950,194 (GRCm39) |
M45L |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Nudt5 |
A |
T |
2: 5,869,248 (GRCm39) |
K158I |
possibly damaging |
Het |
| Nufip1 |
C |
T |
14: 76,348,494 (GRCm39) |
P41L |
possibly damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,739 (GRCm39) |
W21R |
probably null |
Het |
| Or52z13 |
A |
T |
7: 103,247,073 (GRCm39) |
E183D |
probably damaging |
Het |
| Pcp2 |
T |
C |
8: 3,674,887 (GRCm39) |
D22G |
probably damaging |
Het |
| Pdk2 |
G |
C |
11: 94,930,228 (GRCm39) |
N69K |
possibly damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,655,905 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
C |
A |
1: 138,041,416 (GRCm39) |
E148* |
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,108,405 (GRCm39) |
V225E |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,664,458 (GRCm39) |
M725K |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,103,660 (GRCm39) |
I1867F |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,684,581 (GRCm39) |
Q1960L |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,064,474 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
A |
8: 64,381,345 (GRCm39) |
R496* |
probably null |
Het |
| Slco1a1 |
C |
T |
6: 141,878,176 (GRCm39) |
V222I |
probably damaging |
Het |
| Sntg2 |
A |
C |
12: 30,308,013 (GRCm39) |
L224R |
probably damaging |
Het |
| Syt16 |
C |
A |
12: 74,313,467 (GRCm39) |
C464* |
probably null |
Het |
| Tapbpl |
T |
A |
6: 125,201,881 (GRCm39) |
S420C |
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,723,694 (GRCm39) |
E528G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,602,710 (GRCm39) |
T219A |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,804,981 (GRCm39) |
F467L |
probably damaging |
Het |
|
| Other mutations in Col6a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Col6a2
|
APN |
10 |
76,450,368 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01995:Col6a2
|
APN |
10 |
76,440,676 (GRCm39) |
splice site |
probably benign |
|
|
IGL02005:Col6a2
|
APN |
10 |
76,446,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02793:Col6a2
|
APN |
10 |
76,432,144 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03144:Col6a2
|
APN |
10 |
76,450,259 (GRCm39) |
missense |
probably benign |
|
|
piddling
|
UTSW |
10 |
76,443,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0137:Col6a2
|
UTSW |
10 |
76,432,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Col6a2
|
UTSW |
10 |
76,450,307 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0423:Col6a2
|
UTSW |
10 |
76,450,751 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0554:Col6a2
|
UTSW |
10 |
76,446,995 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0781:Col6a2
|
UTSW |
10 |
76,443,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0831:Col6a2
|
UTSW |
10 |
76,439,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Col6a2
|
UTSW |
10 |
76,443,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1499:Col6a2
|
UTSW |
10 |
76,439,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Col6a2
|
UTSW |
10 |
76,450,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1854:Col6a2
|
UTSW |
10 |
76,450,646 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1878:Col6a2
|
UTSW |
10 |
76,450,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3410:Col6a2
|
UTSW |
10 |
76,439,193 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4110:Col6a2
|
UTSW |
10 |
76,442,003 (GRCm39) |
splice site |
probably null |
|
|
R4242:Col6a2
|
UTSW |
10 |
76,443,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5562:Col6a2
|
UTSW |
10 |
76,435,509 (GRCm39) |
nonsense |
probably null |
|
|
R5603:Col6a2
|
UTSW |
10 |
76,432,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Col6a2
|
UTSW |
10 |
76,449,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5681:Col6a2
|
UTSW |
10 |
76,445,085 (GRCm39) |
splice site |
probably null |
|
|
R5707:Col6a2
|
UTSW |
10 |
76,446,865 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5735:Col6a2
|
UTSW |
10 |
76,435,727 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5789:Col6a2
|
UTSW |
10 |
76,440,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:Col6a2
|
UTSW |
10 |
76,442,978 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6156:Col6a2
|
UTSW |
10 |
76,440,004 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6208:Col6a2
|
UTSW |
10 |
76,450,891 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6296:Col6a2
|
UTSW |
10 |
76,446,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Col6a2
|
UTSW |
10 |
76,435,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6722:Col6a2
|
UTSW |
10 |
76,450,392 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7012:Col6a2
|
UTSW |
10 |
76,450,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7091:Col6a2
|
UTSW |
10 |
76,450,925 (GRCm39) |
missense |
unknown |
|
|
R7422:Col6a2
|
UTSW |
10 |
76,439,170 (GRCm39) |
nonsense |
probably null |
|
|
R7655:Col6a2
|
UTSW |
10 |
76,443,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7656:Col6a2
|
UTSW |
10 |
76,443,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7802:Col6a2
|
UTSW |
10 |
76,439,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Col6a2
|
UTSW |
10 |
76,450,972 (GRCm39) |
missense |
probably benign |
|
|
R8156:Col6a2
|
UTSW |
10 |
76,432,625 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8233:Col6a2
|
UTSW |
10 |
76,444,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8501:Col6a2
|
UTSW |
10 |
76,439,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8826:Col6a2
|
UTSW |
10 |
76,439,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8885:Col6a2
|
UTSW |
10 |
76,450,741 (GRCm39) |
nonsense |
probably null |
|
|
R8948:Col6a2
|
UTSW |
10 |
76,446,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Col6a2
|
UTSW |
10 |
76,440,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Col6a2
|
UTSW |
10 |
76,440,720 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
RF020:Col6a2
|
UTSW |
10 |
76,442,043 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Col6a2
|
UTSW |
10 |
76,432,184 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGAGAGGACTTGACCCC -3'
(R):5'- TTGGCTAACATGACGCAGCAG -3'
Sequencing Primer
(F):5'- TTGAGAGGACTTGACCCCAATCTC -3'
(R):5'- CAAGGGGGTGGTCAACTTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation