Incidental Mutation 'R6372:Col5a3'
| ID |
513583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col5a3
|
| Ensembl Gene |
ENSMUSG00000004098 |
| Gene Name |
collagen, type V, alpha 3 |
| Synonyms |
Pro-alpha3(V) |
| MMRRC Submission |
044522-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R6372 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20681353-20726363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20696882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 917
(V917A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004201]
|
| AlphaFold |
Q9JLI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004201
AA Change: V917A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000004201
Gene: ENSMUSG00000004098
AA Change: V917A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
TSPN
|
32 |
211 |
7.08e-28 |
SMART |
|
LamG
|
89 |
210 |
2.13e-2 |
SMART |
|
low complexity region
|
247 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
474 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
475 |
538 |
5.5e-10 |
PFAM |
|
low complexity region
|
597 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
694 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
703 |
737 |
7.13e-16 |
PROSPERO |
|
low complexity region
|
742 |
821 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
889 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
892 |
1081 |
5.05e-17 |
PROSPERO |
|
internal_repeat_1
|
996 |
1133 |
7.47e-22 |
PROSPERO |
|
internal_repeat_3
|
1105 |
1139 |
7.13e-16 |
PROSPERO |
|
low complexity region
|
1140 |
1165 |
N/A |
INTRINSIC |
|
low complexity region
|
1168 |
1255 |
N/A |
INTRINSIC |
|
low complexity region
|
1258 |
1282 |
N/A |
INTRINSIC |
|
low complexity region
|
1285 |
1306 |
N/A |
INTRINSIC |
|
low complexity region
|
1311 |
1418 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1429 |
1491 |
9.5e-10 |
PFAM |
|
COLFI
|
1508 |
1738 |
7.98e-92 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145974
|
| Meta Mutation Damage Score |
0.1289 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (59/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
A |
10: 87,066,088 (GRCm39) |
H136Q |
possibly damaging |
Het |
| Aim2 |
T |
A |
1: 173,282,802 (GRCm39) |
|
probably null |
Het |
| Atp13a3 |
T |
C |
16: 30,162,273 (GRCm39) |
H696R |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,764 (GRCm39) |
S301P |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,710,932 (GRCm39) |
I667F |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,324,679 (GRCm39) |
Y415F |
probably benign |
Het |
| Ccdc183 |
T |
C |
2: 25,506,176 (GRCm39) |
D140G |
probably benign |
Het |
| Clec2g |
A |
C |
6: 128,925,726 (GRCm39) |
H45P |
probably benign |
Het |
| Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,176 (GRCm39) |
I23V |
probably benign |
Het |
| Elovl6 |
T |
C |
3: 129,426,751 (GRCm39) |
F139S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,806,433 (GRCm39) |
T2134A |
probably damaging |
Het |
| Fcrl5 |
C |
T |
3: 87,351,501 (GRCm39) |
Q250* |
probably null |
Het |
| Gimap1 |
T |
A |
6: 48,720,290 (GRCm39) |
*301K |
probably null |
Het |
| Gm17472 |
T |
C |
6: 42,957,823 (GRCm39) |
S31P |
possibly damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,293,427 (GRCm39) |
F204S |
probably damaging |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,127,757 (GRCm39) |
H370R |
probably benign |
Het |
| Ighv7-2 |
G |
A |
12: 113,876,075 (GRCm39) |
T10I |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,726,389 (GRCm39) |
K448E |
probably damaging |
Het |
| Lama4 |
C |
A |
10: 38,943,948 (GRCm39) |
N750K |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,613,907 (GRCm39) |
Y1077H |
probably damaging |
Het |
| Mrpl45 |
T |
C |
11: 97,212,388 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,457,812 (GRCm39) |
D2185G |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,206,378 (GRCm39) |
L743P |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,171,613 (GRCm39) |
|
probably null |
Het |
| Nol9 |
T |
C |
4: 152,130,452 (GRCm39) |
S329P |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,693,355 (GRCm39) |
D259G |
probably benign |
Het |
| Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or4k40 |
T |
A |
2: 111,251,147 (GRCm39) |
I50F |
probably benign |
Het |
| Or5al5 |
T |
C |
2: 85,961,198 (GRCm39) |
T270A |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8h8 |
T |
A |
2: 86,753,499 (GRCm39) |
I126F |
probably damaging |
Het |
| Pbx4 |
C |
A |
8: 70,324,694 (GRCm39) |
A365E |
possibly damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,419 (GRCm39) |
N71K |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,322,566 (GRCm39) |
V112A |
probably damaging |
Het |
| Rhbdl3 |
C |
A |
11: 80,221,482 (GRCm39) |
L207I |
probably damaging |
Het |
| Rtkn |
A |
G |
6: 83,128,882 (GRCm39) |
D459G |
possibly damaging |
Het |
| Rubcnl |
C |
A |
14: 75,285,009 (GRCm39) |
S509R |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,863,777 (GRCm39) |
T661A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,449,475 (GRCm39) |
D2472V |
probably damaging |
Het |
| Taf4b |
T |
G |
18: 14,937,790 (GRCm39) |
V258G |
probably damaging |
Het |
| Tbc1d19 |
T |
G |
5: 54,014,252 (GRCm39) |
S293R |
possibly damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,153,776 (GRCm39) |
R159Q |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,850,048 (GRCm39) |
S874P |
probably damaging |
Het |
| Tnk2 |
T |
A |
16: 32,498,603 (GRCm39) |
W639R |
probably damaging |
Het |
| Tpmt |
C |
T |
13: 47,189,370 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
T |
A |
15: 72,461,923 (GRCm39) |
D935V |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,118 (GRCm39) |
V4A |
probably damaging |
Het |
| Ubn1 |
C |
T |
16: 4,899,502 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Usf2 |
G |
A |
7: 30,654,738 (GRCm39) |
Q35* |
probably null |
Het |
| Vmn1r57 |
T |
C |
7: 5,223,826 (GRCm39) |
M117T |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,589,861 (GRCm39) |
A685E |
probably damaging |
Het |
| Vxn |
G |
A |
1: 9,683,546 (GRCm39) |
E45K |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,892,551 (GRCm39) |
E166G |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,291 (GRCm39) |
S507P |
probably damaging |
Het |
|
| Other mutations in Col5a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Col5a3
|
APN |
9 |
20,697,685 (GRCm39) |
nonsense |
probably null |
|
|
IGL01548:Col5a3
|
APN |
9 |
20,714,296 (GRCm39) |
splice site |
probably benign |
|
|
IGL02164:Col5a3
|
APN |
9 |
20,703,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02297:Col5a3
|
APN |
9 |
20,683,450 (GRCm39) |
missense |
unknown |
|
|
IGL02333:Col5a3
|
APN |
9 |
20,710,602 (GRCm39) |
missense |
unknown |
|
|
IGL02349:Col5a3
|
APN |
9 |
20,683,657 (GRCm39) |
missense |
unknown |
|
|
IGL02390:Col5a3
|
APN |
9 |
20,688,292 (GRCm39) |
missense |
unknown |
|
|
IGL02685:Col5a3
|
APN |
9 |
20,683,501 (GRCm39) |
missense |
unknown |
|
|
IGL02941:Col5a3
|
APN |
9 |
20,715,962 (GRCm39) |
missense |
unknown |
|
|
IGL03001:Col5a3
|
APN |
9 |
20,719,040 (GRCm39) |
missense |
unknown |
|
|
IGL03061:Col5a3
|
APN |
9 |
20,708,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03102:Col5a3
|
APN |
9 |
20,715,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03308:Col5a3
|
APN |
9 |
20,719,675 (GRCm39) |
missense |
unknown |
|
|
IGL03372:Col5a3
|
APN |
9 |
20,686,624 (GRCm39) |
missense |
unknown |
|
|
Guppy
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
minifish
|
UTSW |
9 |
20,696,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0002:Col5a3
|
UTSW |
9 |
20,721,152 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0012:Col5a3
|
UTSW |
9 |
20,688,404 (GRCm39) |
splice site |
probably benign |
|
|
R0316:Col5a3
|
UTSW |
9 |
20,686,621 (GRCm39) |
missense |
unknown |
|
|
R0357:Col5a3
|
UTSW |
9 |
20,719,064 (GRCm39) |
splice site |
probably benign |
|
|
R0360:Col5a3
|
UTSW |
9 |
20,683,762 (GRCm39) |
missense |
unknown |
|
|
R0483:Col5a3
|
UTSW |
9 |
20,693,777 (GRCm39) |
splice site |
probably null |
|
|
R0485:Col5a3
|
UTSW |
9 |
20,694,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0627:Col5a3
|
UTSW |
9 |
20,686,781 (GRCm39) |
missense |
unknown |
|
|
R1035:Col5a3
|
UTSW |
9 |
20,704,795 (GRCm39) |
splice site |
probably benign |
|
|
R1051:Col5a3
|
UTSW |
9 |
20,686,531 (GRCm39) |
missense |
unknown |
|
|
R1295:Col5a3
|
UTSW |
9 |
20,719,714 (GRCm39) |
missense |
unknown |
|
|
R1438:Col5a3
|
UTSW |
9 |
20,691,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1622:Col5a3
|
UTSW |
9 |
20,683,516 (GRCm39) |
missense |
unknown |
|
|
R1668:Col5a3
|
UTSW |
9 |
20,682,392 (GRCm39) |
missense |
unknown |
|
|
R1680:Col5a3
|
UTSW |
9 |
20,695,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2112:Col5a3
|
UTSW |
9 |
20,721,073 (GRCm39) |
missense |
unknown |
|
|
R2149:Col5a3
|
UTSW |
9 |
20,682,566 (GRCm39) |
missense |
unknown |
|
|
R2159:Col5a3
|
UTSW |
9 |
20,682,606 (GRCm39) |
missense |
unknown |
|
|
R2939:Col5a3
|
UTSW |
9 |
20,706,954 (GRCm39) |
missense |
unknown |
|
|
R3236:Col5a3
|
UTSW |
9 |
20,718,949 (GRCm39) |
missense |
unknown |
|
|
R3845:Col5a3
|
UTSW |
9 |
20,719,673 (GRCm39) |
missense |
unknown |
|
|
R4598:Col5a3
|
UTSW |
9 |
20,685,855 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4599:Col5a3
|
UTSW |
9 |
20,685,855 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4611:Col5a3
|
UTSW |
9 |
20,726,192 (GRCm39) |
unclassified |
probably benign |
|
|
R4713:Col5a3
|
UTSW |
9 |
20,704,870 (GRCm39) |
missense |
unknown |
|
|
R4723:Col5a3
|
UTSW |
9 |
20,720,887 (GRCm39) |
missense |
unknown |
|
|
R5209:Col5a3
|
UTSW |
9 |
20,689,939 (GRCm39) |
intron |
probably benign |
|
|
R5336:Col5a3
|
UTSW |
9 |
20,710,597 (GRCm39) |
missense |
unknown |
|
|
R5378:Col5a3
|
UTSW |
9 |
20,708,872 (GRCm39) |
missense |
unknown |
|
|
R5614:Col5a3
|
UTSW |
9 |
20,694,772 (GRCm39) |
splice site |
probably benign |
|
|
R5775:Col5a3
|
UTSW |
9 |
20,712,368 (GRCm39) |
missense |
unknown |
|
|
R5895:Col5a3
|
UTSW |
9 |
20,683,738 (GRCm39) |
missense |
unknown |
|
|
R6048:Col5a3
|
UTSW |
9 |
20,718,915 (GRCm39) |
missense |
unknown |
|
|
R6265:Col5a3
|
UTSW |
9 |
20,705,060 (GRCm39) |
missense |
unknown |
|
|
R6520:Col5a3
|
UTSW |
9 |
20,685,348 (GRCm39) |
missense |
unknown |
|
|
R6558:Col5a3
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Col5a3
|
UTSW |
9 |
20,685,315 (GRCm39) |
missense |
unknown |
|
|
R6679:Col5a3
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6680:Col5a3
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Col5a3
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Col5a3
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Col5a3
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Col5a3
|
UTSW |
9 |
20,686,331 (GRCm39) |
missense |
unknown |
|
|
R6712:Col5a3
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Col5a3
|
UTSW |
9 |
20,690,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Col5a3
|
UTSW |
9 |
20,709,748 (GRCm39) |
missense |
unknown |
|
|
R7343:Col5a3
|
UTSW |
9 |
20,705,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7431:Col5a3
|
UTSW |
9 |
20,682,131 (GRCm39) |
makesense |
probably null |
|
|
R7500:Col5a3
|
UTSW |
9 |
20,711,585 (GRCm39) |
missense |
unknown |
|
|
R7592:Col5a3
|
UTSW |
9 |
20,708,689 (GRCm39) |
missense |
unknown |
|
|
R7671:Col5a3
|
UTSW |
9 |
20,686,382 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7957:Col5a3
|
UTSW |
9 |
20,685,347 (GRCm39) |
missense |
unknown |
|
|
R8510:Col5a3
|
UTSW |
9 |
20,705,028 (GRCm39) |
missense |
unknown |
|
|
R8979:Col5a3
|
UTSW |
9 |
20,686,597 (GRCm39) |
missense |
unknown |
|
|
R9050:Col5a3
|
UTSW |
9 |
20,697,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Col5a3
|
UTSW |
9 |
20,710,733 (GRCm39) |
missense |
unknown |
|
|
R9072:Col5a3
|
UTSW |
9 |
20,682,453 (GRCm39) |
missense |
unknown |
|
|
R9341:Col5a3
|
UTSW |
9 |
20,704,909 (GRCm39) |
missense |
unknown |
|
|
R9343:Col5a3
|
UTSW |
9 |
20,704,909 (GRCm39) |
missense |
unknown |
|
|
R9529:Col5a3
|
UTSW |
9 |
20,685,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9562:Col5a3
|
UTSW |
9 |
20,714,429 (GRCm39) |
missense |
unknown |
|
|
R9781:Col5a3
|
UTSW |
9 |
20,721,272 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col5a3
|
UTSW |
9 |
20,686,630 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACCTTGTTCACCAGGAG -3'
(R):5'- CATGTACATGTGGAAGCCAGG -3'
Sequencing Primer
(F):5'- AGGAGGTCCAGGAGGCC -3'
(R):5'- GTCTCACAGGTTAGGCTAGAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation