Incidental Mutation 'R8217:Col5a1'
| ID |
636401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col5a1
|
| Ensembl Gene |
ENSMUSG00000026837 |
| Gene Name |
collagen, type V, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
067658-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27776437-27929526 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27812135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 72
(D72E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028280]
|
| AlphaFold |
O88207 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000028280
AA Change: D72E
|
| SMART Domains |
Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: D72E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
TSPN
|
39 |
230 |
5.7e-73 |
SMART |
|
LamG
|
98 |
229 |
6.86e-3 |
SMART |
|
low complexity region
|
259 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
internal_repeat_7
|
443 |
457 |
9.97e-7 |
PROSPERO |
|
Pfam:Collagen
|
467 |
519 |
4e-10 |
PFAM |
|
Pfam:Collagen
|
557 |
619 |
6.5e-9 |
PFAM |
|
internal_repeat_2
|
622 |
642 |
1.83e-11 |
PROSPERO |
|
low complexity region
|
643 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
793 |
N/A |
INTRINSIC |
|
internal_repeat_5
|
794 |
817 |
3.78e-8 |
PROSPERO |
|
internal_repeat_7
|
798 |
812 |
9.97e-7 |
PROSPERO |
|
internal_repeat_8
|
802 |
821 |
8.84e-6 |
PROSPERO |
|
low complexity region
|
826 |
862 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
865 |
889 |
2.79e-10 |
PROSPERO |
|
internal_repeat_5
|
869 |
892 |
3.78e-8 |
PROSPERO |
|
low complexity region
|
895 |
925 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
928 |
948 |
1.83e-11 |
PROSPERO |
|
internal_repeat_4
|
928 |
948 |
1.27e-8 |
PROSPERO |
|
low complexity region
|
949 |
979 |
N/A |
INTRINSIC |
|
low complexity region
|
984 |
1033 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
1039 |
1062 |
1.27e-8 |
PROSPERO |
|
internal_repeat_1
|
1039 |
1063 |
5.12e-15 |
PROSPERO |
|
internal_repeat_3
|
1048 |
1072 |
2.79e-10 |
PROSPERO |
|
internal_repeat_6
|
1049 |
1072 |
1.13e-7 |
PROSPERO |
|
low complexity region
|
1075 |
1117 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1165 |
N/A |
INTRINSIC |
|
low complexity region
|
1174 |
1193 |
N/A |
INTRINSIC |
|
internal_repeat_8
|
1195 |
1214 |
8.84e-6 |
PROSPERO |
|
low complexity region
|
1215 |
1243 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1282 |
N/A |
INTRINSIC |
|
low complexity region
|
1285 |
1421 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1423 |
1447 |
5.12e-15 |
PROSPERO |
|
Pfam:Collagen
|
1460 |
1529 |
8.4e-9 |
PFAM |
|
Pfam:Collagen
|
1513 |
1575 |
1.2e-9 |
PFAM |
|
COLFI
|
1608 |
1837 |
3.33e-153 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (48/49) |
| 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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,037,921 (GRCm39) |
L406P |
probably damaging |
Het |
| Aph1b |
T |
C |
9: 66,686,554 (GRCm39) |
K239E |
possibly damaging |
Het |
| Atp13a4 |
C |
A |
16: 29,222,619 (GRCm39) |
V1102F |
|
Het |
| B3gat1 |
G |
A |
9: 26,668,165 (GRCm39) |
A265T |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,988,850 (GRCm39) |
E419G |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,080,197 (GRCm39) |
L380P |
probably damaging |
Het |
| Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
| Cfi |
A |
C |
3: 129,648,650 (GRCm39) |
N178T |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,797,637 (GRCm39) |
V1367D |
possibly damaging |
Het |
| D5Ertd579e |
A |
C |
5: 36,771,402 (GRCm39) |
S998A |
probably benign |
Het |
| Ehf |
T |
C |
2: 103,109,976 (GRCm39) |
E77G |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,820,937 (GRCm39) |
I662T |
probably benign |
Het |
| F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Klhl8 |
A |
G |
5: 104,015,466 (GRCm39) |
V486A |
possibly damaging |
Het |
| Lrrc72 |
A |
T |
12: 36,258,676 (GRCm39) |
D60E |
probably damaging |
Het |
| Marchf5 |
C |
T |
19: 37,185,210 (GRCm39) |
|
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,259,726 (GRCm39) |
I365T |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nod2 |
A |
C |
8: 89,390,785 (GRCm39) |
D364A |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,641,876 (GRCm39) |
M108K |
possibly damaging |
Het |
| Nutm2 |
G |
T |
13: 50,623,759 (GRCm39) |
R152L |
probably benign |
Het |
| Or14c43 |
A |
G |
7: 86,115,390 (GRCm39) |
Y257C |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,792 (GRCm39) |
M41L |
probably benign |
Het |
| Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
| Pak1ip1 |
T |
A |
13: 41,166,126 (GRCm39) |
S350R |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,079,974 (GRCm39) |
F239L |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pkm |
C |
T |
9: 59,586,092 (GRCm39) |
T524I |
possibly damaging |
Het |
| Plekhg2 |
T |
A |
7: 28,067,717 (GRCm39) |
Q245L |
probably null |
Het |
| Pola2 |
T |
A |
19: 6,013,855 (GRCm39) |
K26N |
possibly damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,480 (GRCm39) |
A995S |
probably benign |
Het |
| Rap2b |
C |
A |
3: 61,272,551 (GRCm39) |
T25K |
possibly damaging |
Het |
| Scrib |
A |
G |
15: 75,939,004 (GRCm39) |
S165P |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,197,713 (GRCm39) |
H2122L |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,599 (GRCm39) |
F200I |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,782,964 (GRCm39) |
V226A |
possibly damaging |
Het |
| Sik1 |
T |
A |
17: 32,070,286 (GRCm39) |
H141L |
probably damaging |
Het |
| Slc9a5 |
A |
T |
8: 106,089,956 (GRCm39) |
E638V |
probably damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,221,202 (GRCm39) |
C15R |
probably benign |
Het |
| Slit1 |
C |
T |
19: 41,612,959 (GRCm39) |
D854N |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tec |
A |
T |
5: 72,921,602 (GRCm39) |
M372K |
probably benign |
Het |
| Tlr2 |
A |
G |
3: 83,745,373 (GRCm39) |
F237L |
probably benign |
Het |
| Trio |
A |
T |
15: 27,819,055 (GRCm39) |
L1597Q |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,957,247 (GRCm39) |
M723K |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,783,694 (GRCm39) |
I592T |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,986 (GRCm39) |
E768G |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,047,295 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Col5a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01291:Col5a1
|
APN |
2 |
27,861,456 (GRCm39) |
splice site |
probably benign |
|
|
IGL01340:Col5a1
|
APN |
2 |
27,850,463 (GRCm39) |
missense |
unknown |
|
|
IGL01938:Col5a1
|
APN |
2 |
27,886,885 (GRCm39) |
missense |
unknown |
|
|
IGL02167:Col5a1
|
APN |
2 |
27,908,568 (GRCm39) |
missense |
probably benign |
|
|
IGL02670:Col5a1
|
APN |
2 |
27,864,727 (GRCm39) |
missense |
unknown |
|
|
IGL02672:Col5a1
|
APN |
2 |
27,864,727 (GRCm39) |
missense |
unknown |
|
|
IGL02673:Col5a1
|
APN |
2 |
27,864,727 (GRCm39) |
missense |
unknown |
|
|
IGL02832:Col5a1
|
APN |
2 |
27,842,352 (GRCm39) |
missense |
unknown |
|
|
IGL03065:Col5a1
|
APN |
2 |
27,922,757 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03196:Col5a1
|
APN |
2 |
27,865,610 (GRCm39) |
missense |
unknown |
|
|
PIT4131001:Col5a1
|
UTSW |
2 |
27,914,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4495001:Col5a1
|
UTSW |
2 |
27,914,788 (GRCm39) |
missense |
unknown |
|
|
R0136:Col5a1
|
UTSW |
2 |
27,914,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Col5a1
|
UTSW |
2 |
27,880,109 (GRCm39) |
splice site |
probably benign |
|
|
R0626:Col5a1
|
UTSW |
2 |
27,818,255 (GRCm39) |
nonsense |
probably null |
|
|
R0666:Col5a1
|
UTSW |
2 |
27,922,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1268:Col5a1
|
UTSW |
2 |
27,892,501 (GRCm39) |
missense |
unknown |
|
|
R1302:Col5a1
|
UTSW |
2 |
27,895,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Col5a1
|
UTSW |
2 |
27,812,076 (GRCm39) |
missense |
unknown |
|
|
R1466:Col5a1
|
UTSW |
2 |
27,893,858 (GRCm39) |
splice site |
probably benign |
|
|
R1617:Col5a1
|
UTSW |
2 |
27,842,393 (GRCm39) |
missense |
unknown |
|
|
R1650:Col5a1
|
UTSW |
2 |
27,812,171 (GRCm39) |
missense |
unknown |
|
|
R1663:Col5a1
|
UTSW |
2 |
27,841,488 (GRCm39) |
missense |
unknown |
|
|
R1901:Col5a1
|
UTSW |
2 |
27,850,456 (GRCm39) |
missense |
unknown |
|
|
R1970:Col5a1
|
UTSW |
2 |
27,876,766 (GRCm39) |
missense |
unknown |
|
|
R2377:Col5a1
|
UTSW |
2 |
27,818,189 (GRCm39) |
missense |
unknown |
|
|
R2396:Col5a1
|
UTSW |
2 |
27,876,741 (GRCm39) |
missense |
unknown |
|
|
R4297:Col5a1
|
UTSW |
2 |
27,907,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4385:Col5a1
|
UTSW |
2 |
27,914,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Col5a1
|
UTSW |
2 |
27,901,353 (GRCm39) |
missense |
unknown |
|
|
R4835:Col5a1
|
UTSW |
2 |
27,915,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Col5a1
|
UTSW |
2 |
27,914,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Col5a1
|
UTSW |
2 |
27,922,751 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4997:Col5a1
|
UTSW |
2 |
27,922,794 (GRCm39) |
nonsense |
probably null |
|
|
R5061:Col5a1
|
UTSW |
2 |
27,842,390 (GRCm39) |
missense |
unknown |
|
|
R5088:Col5a1
|
UTSW |
2 |
27,908,614 (GRCm39) |
nonsense |
probably null |
|
|
R5089:Col5a1
|
UTSW |
2 |
27,908,614 (GRCm39) |
nonsense |
probably null |
|
|
R5090:Col5a1
|
UTSW |
2 |
27,908,614 (GRCm39) |
nonsense |
probably null |
|
|
R5114:Col5a1
|
UTSW |
2 |
27,915,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5409:Col5a1
|
UTSW |
2 |
27,850,457 (GRCm39) |
missense |
unknown |
|
|
R5649:Col5a1
|
UTSW |
2 |
27,841,468 (GRCm39) |
missense |
unknown |
|
|
R5699:Col5a1
|
UTSW |
2 |
27,887,611 (GRCm39) |
missense |
unknown |
|
|
R5910:Col5a1
|
UTSW |
2 |
27,926,900 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6053:Col5a1
|
UTSW |
2 |
27,904,389 (GRCm39) |
unclassified |
probably benign |
|
|
R6210:Col5a1
|
UTSW |
2 |
27,922,633 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6363:Col5a1
|
UTSW |
2 |
27,818,207 (GRCm39) |
missense |
unknown |
|
|
R6478:Col5a1
|
UTSW |
2 |
27,842,448 (GRCm39) |
missense |
unknown |
|
|
R6600:Col5a1
|
UTSW |
2 |
27,887,583 (GRCm39) |
missense |
unknown |
|
|
R7047:Col5a1
|
UTSW |
2 |
27,818,096 (GRCm39) |
missense |
unknown |
|
|
R7061:Col5a1
|
UTSW |
2 |
27,915,690 (GRCm39) |
nonsense |
probably null |
|
|
R7131:Col5a1
|
UTSW |
2 |
27,819,498 (GRCm39) |
missense |
unknown |
|
|
R7202:Col5a1
|
UTSW |
2 |
27,842,390 (GRCm39) |
missense |
unknown |
|
|
R7270:Col5a1
|
UTSW |
2 |
27,887,597 (GRCm39) |
missense |
unknown |
|
|
R7385:Col5a1
|
UTSW |
2 |
27,914,762 (GRCm39) |
missense |
unknown |
|
|
R7492:Col5a1
|
UTSW |
2 |
27,859,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7570:Col5a1
|
UTSW |
2 |
27,841,395 (GRCm39) |
missense |
unknown |
|
|
R7627:Col5a1
|
UTSW |
2 |
27,840,665 (GRCm39) |
nonsense |
probably null |
|
|
R8003:Col5a1
|
UTSW |
2 |
27,848,340 (GRCm39) |
intron |
probably benign |
|
|
R8011:Col5a1
|
UTSW |
2 |
27,870,533 (GRCm39) |
splice site |
probably benign |
|
|
R8073:Col5a1
|
UTSW |
2 |
27,852,141 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8879:Col5a1
|
UTSW |
2 |
27,904,170 (GRCm39) |
missense |
unknown |
|
|
R8911:Col5a1
|
UTSW |
2 |
27,887,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9082:Col5a1
|
UTSW |
2 |
27,852,122 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9095:Col5a1
|
UTSW |
2 |
27,914,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9170:Col5a1
|
UTSW |
2 |
27,841,363 (GRCm39) |
missense |
unknown |
|
|
R9264:Col5a1
|
UTSW |
2 |
27,854,123 (GRCm39) |
missense |
unknown |
|
|
R9265:Col5a1
|
UTSW |
2 |
27,854,123 (GRCm39) |
missense |
unknown |
|
|
R9461:Col5a1
|
UTSW |
2 |
27,922,616 (GRCm39) |
missense |
unknown |
|
|
R9596:Col5a1
|
UTSW |
2 |
27,819,551 (GRCm39) |
nonsense |
probably null |
|
|
R9614:Col5a1
|
UTSW |
2 |
27,879,186 (GRCm39) |
missense |
unknown |
|
|
R9691:Col5a1
|
UTSW |
2 |
27,842,994 (GRCm39) |
missense |
unknown |
|
|
R9743:Col5a1
|
UTSW |
2 |
27,864,505 (GRCm39) |
missense |
unknown |
|
|
Z1176:Col5a1
|
UTSW |
2 |
27,892,529 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATTCACCTTCTCTTTGGGG -3'
(R):5'- TAGCACAGACAAGGCCTTGC -3'
Sequencing Primer
(F):5'- GGTGCCCCTCAGTTGTGTC -3'
(R):5'- TGGTTTCACTATAATGAGGAAGACTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation