Incidental Mutation 'R7332:Col5a2'
| ID |
569268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col5a2
|
| Ensembl Gene |
ENSMUSG00000026042 |
| Gene Name |
collagen, type V, alpha 2 |
| Synonyms |
1110014L14Rik |
| MMRRC Submission |
045425-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45413491-45542442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 45419325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Histidine
at position 1252
(D1252H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086430]
|
| AlphaFold |
Q3U962 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086430
AA Change: D1252H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042
AA Change: D1252H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
VWC
|
40 |
95 |
9.94e-23 |
SMART |
|
Pfam:Collagen
|
123 |
186 |
1.5e-10 |
PFAM |
|
Pfam:Collagen
|
207 |
272 |
2.9e-9 |
PFAM |
|
low complexity region
|
319 |
347 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
349 |
421 |
3.18e-18 |
PROSPERO |
|
internal_repeat_2
|
385 |
422 |
1.34e-12 |
PROSPERO |
|
internal_repeat_5
|
388 |
423 |
1.55e-7 |
PROSPERO |
|
low complexity region
|
424 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
508 |
N/A |
INTRINSIC |
|
internal_repeat_6
|
509 |
535 |
5.68e-7 |
PROSPERO |
|
internal_repeat_2
|
511 |
548 |
1.34e-12 |
PROSPERO |
|
internal_repeat_3
|
520 |
549 |
1.16e-11 |
PROSPERO |
|
internal_repeat_1
|
520 |
571 |
3.18e-18 |
PROSPERO |
|
internal_repeat_4
|
546 |
574 |
4.91e-9 |
PROSPERO |
|
low complexity region
|
595 |
611 |
N/A |
INTRINSIC |
|
internal_repeat_7
|
616 |
741 |
1.35e-6 |
PROSPERO |
|
low complexity region
|
742 |
757 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
790 |
870 |
4.8e-8 |
PFAM |
|
low complexity region
|
877 |
898 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
907 |
979 |
4.2e-8 |
PFAM |
|
internal_repeat_4
|
993 |
1021 |
4.91e-9 |
PROSPERO |
|
internal_repeat_3
|
994 |
1023 |
1.16e-11 |
PROSPERO |
|
low complexity region
|
1024 |
1054 |
N/A |
INTRINSIC |
|
internal_repeat_6
|
1055 |
1078 |
5.68e-7 |
PROSPERO |
|
low complexity region
|
1081 |
1096 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1111 |
1171 |
9.7e-12 |
PFAM |
|
Pfam:Collagen
|
1168 |
1230 |
1.4e-9 |
PFAM |
|
COLFI
|
1263 |
1497 |
1.83e-164 |
SMART |
|
| Meta Mutation Damage Score |
0.1581 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
A |
G |
19: 56,906,553 (GRCm39) |
S449P |
probably damaging |
Het |
| Atp6v0c |
A |
C |
17: 24,388,198 (GRCm39) |
S21A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,601,547 (GRCm39) |
Y40C |
possibly damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,813,213 (GRCm39) |
I398T |
possibly damaging |
Het |
| Cfap44 |
T |
A |
16: 44,250,191 (GRCm39) |
D756E |
probably damaging |
Het |
| Clcnkb |
A |
T |
4: 141,141,243 (GRCm39) |
L104Q |
probably null |
Het |
| Clk1 |
G |
A |
1: 58,451,853 (GRCm39) |
H421Y |
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,528,061 (GRCm39) |
D426V |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,061 (GRCm39) |
L2009S |
possibly damaging |
Het |
| Coro1b |
A |
G |
19: 4,199,356 (GRCm39) |
K5R |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,313,360 (GRCm39) |
T1346A |
|
Het |
| Csrp1 |
G |
T |
1: 135,667,149 (GRCm39) |
W4L |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,929,817 (GRCm39) |
I184T |
probably damaging |
Het |
| Egfl7 |
C |
A |
2: 26,480,725 (GRCm39) |
R128S |
probably benign |
Het |
| Fggy |
A |
T |
4: 95,511,719 (GRCm39) |
N157I |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,093,926 (GRCm39) |
L697Q |
probably damaging |
Het |
| Gm4952 |
T |
A |
19: 12,604,373 (GRCm39) |
Y262N |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,495,119 (GRCm39) |
M821K |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,766,351 (GRCm39) |
|
probably null |
Het |
| Hsbp1l1 |
T |
C |
18: 80,280,038 (GRCm39) |
|
probably benign |
Het |
| Igfbp7 |
G |
A |
5: 77,499,803 (GRCm39) |
T220I |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,322,819 (GRCm39) |
Q137R |
probably damaging |
Het |
| Kcna6 |
A |
G |
6: 126,716,292 (GRCm39) |
F199S |
possibly damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,995,705 (GRCm39) |
I410V |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,739,125 (GRCm39) |
V332A |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,822,661 (GRCm39) |
I517M |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,106 (GRCm39) |
T106A |
probably benign |
Het |
| Mast4 |
T |
A |
13: 102,887,932 (GRCm39) |
Y1159F |
possibly damaging |
Het |
| Mmp2 |
A |
G |
8: 93,576,780 (GRCm39) |
D601G |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,434,793 (GRCm39) |
I2217F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,889 (GRCm39) |
S2891P |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,437,209 (GRCm39) |
V438A |
possibly damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,738 (GRCm39) |
H131R |
not run |
Het |
| Pdf |
T |
C |
8: 107,775,173 (GRCm39) |
R20G |
probably benign |
Het |
| Pfdn2 |
T |
C |
1: 171,184,162 (GRCm39) |
L47P |
probably damaging |
Het |
| Pik3c2g |
C |
A |
6: 139,841,981 (GRCm39) |
N795K |
|
Het |
| Ppip5k1 |
A |
T |
2: 121,142,450 (GRCm39) |
V1333D |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,143,187 (GRCm39) |
T339A |
possibly damaging |
Het |
| Prss44 |
A |
T |
9: 110,644,530 (GRCm39) |
I213F |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,183,557 (GRCm39) |
Y349H |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,108,096 (GRCm39) |
T253S |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,595,754 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,522,898 (GRCm39) |
W935* |
probably null |
Het |
| Sec24b |
T |
C |
3: 129,835,042 (GRCm39) |
N52S |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,800,091 (GRCm39) |
I94L |
probably benign |
Het |
| Setx |
T |
C |
2: 29,036,638 (GRCm39) |
V1041A |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 73,968,232 (GRCm39) |
A496V |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,204,205 (GRCm39) |
L486* |
probably null |
Het |
| Spink5 |
T |
C |
18: 44,115,317 (GRCm39) |
I183T |
probably damaging |
Het |
| Srd5a1 |
T |
C |
13: 69,759,173 (GRCm39) |
Y65C |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,344,349 (GRCm39) |
I778N |
possibly damaging |
Het |
| Sstr1 |
C |
T |
12: 58,260,172 (GRCm39) |
S265L |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,014,529 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
T |
5: 122,399,547 (GRCm39) |
D92E |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,503,644 (GRCm39) |
I940M |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,018,599 (GRCm39) |
W194R |
unknown |
Het |
| Tomm20 |
T |
C |
8: 127,663,903 (GRCm39) |
T94A |
probably benign |
Het |
| Ucn2 |
A |
G |
9: 108,815,532 (GRCm39) |
N98S |
probably benign |
Het |
| V1rd19 |
A |
T |
7: 23,702,743 (GRCm39) |
I70L |
probably benign |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,503 (GRCm39) |
L17P |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,534 (GRCm39) |
T20A |
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,220,986 (GRCm39) |
T182I |
|
Het |
| Zfp40 |
A |
T |
17: 23,395,155 (GRCm39) |
C477* |
probably null |
Het |
| Zfp68 |
A |
G |
5: 138,604,830 (GRCm39) |
S498P |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,757,755 (GRCm39) |
|
probably null |
Het |
| Zfp846 |
T |
G |
9: 20,505,521 (GRCm39) |
N460K |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,352 (GRCm39) |
Y437C |
probably damaging |
Het |
|
| Other mutations in Col5a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00567:Col5a2
|
APN |
1 |
45,432,037 (GRCm39) |
splice site |
probably benign |
|
|
IGL00978:Col5a2
|
APN |
1 |
45,415,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01366:Col5a2
|
APN |
1 |
45,431,048 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01487:Col5a2
|
APN |
1 |
45,415,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01820:Col5a2
|
APN |
1 |
45,481,985 (GRCm39) |
missense |
unknown |
|
|
IGL01980:Col5a2
|
APN |
1 |
45,421,393 (GRCm39) |
splice site |
probably benign |
|
|
IGL02063:Col5a2
|
APN |
1 |
45,442,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02134:Col5a2
|
APN |
1 |
45,430,230 (GRCm39) |
splice site |
probably null |
|
|
IGL02233:Col5a2
|
APN |
1 |
45,422,747 (GRCm39) |
splice site |
probably null |
|
|
IGL02489:Col5a2
|
APN |
1 |
45,431,971 (GRCm39) |
splice site |
probably null |
|
|
IGL02928:Col5a2
|
APN |
1 |
45,424,180 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02931:Col5a2
|
APN |
1 |
45,424,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Col5a2
|
APN |
1 |
45,415,306 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Beatnik
|
UTSW |
1 |
45,415,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0022:Col5a2
|
UTSW |
1 |
45,422,843 (GRCm39) |
nonsense |
probably null |
|
|
R0123:Col5a2
|
UTSW |
1 |
45,446,195 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0180:Col5a2
|
UTSW |
1 |
45,450,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0225:Col5a2
|
UTSW |
1 |
45,446,195 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0455:Col5a2
|
UTSW |
1 |
45,421,262 (GRCm39) |
splice site |
probably benign |
|
|
R0485:Col5a2
|
UTSW |
1 |
45,417,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0702:Col5a2
|
UTSW |
1 |
45,419,291 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0745:Col5a2
|
UTSW |
1 |
45,446,387 (GRCm39) |
splice site |
probably null |
|
|
R1147:Col5a2
|
UTSW |
1 |
45,415,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1147:Col5a2
|
UTSW |
1 |
45,415,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1394:Col5a2
|
UTSW |
1 |
45,442,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1494:Col5a2
|
UTSW |
1 |
45,542,074 (GRCm39) |
start codon destroyed |
unknown |
|
|
R1499:Col5a2
|
UTSW |
1 |
45,450,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1733:Col5a2
|
UTSW |
1 |
45,446,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1789:Col5a2
|
UTSW |
1 |
45,433,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1789:Col5a2
|
UTSW |
1 |
45,417,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2114:Col5a2
|
UTSW |
1 |
45,415,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2915:Col5a2
|
UTSW |
1 |
45,452,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Col5a2
|
UTSW |
1 |
45,419,397 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4015:Col5a2
|
UTSW |
1 |
45,442,631 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4944:Col5a2
|
UTSW |
1 |
45,415,855 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4982:Col5a2
|
UTSW |
1 |
45,428,618 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5001:Col5a2
|
UTSW |
1 |
45,542,058 (GRCm39) |
missense |
unknown |
|
|
R5159:Col5a2
|
UTSW |
1 |
45,425,991 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5197:Col5a2
|
UTSW |
1 |
45,432,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5407:Col5a2
|
UTSW |
1 |
45,445,440 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5502:Col5a2
|
UTSW |
1 |
45,419,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5575:Col5a2
|
UTSW |
1 |
45,417,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5622:Col5a2
|
UTSW |
1 |
45,466,219 (GRCm39) |
missense |
probably benign |
|
|
R5643:Col5a2
|
UTSW |
1 |
45,429,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:Col5a2
|
UTSW |
1 |
45,428,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6075:Col5a2
|
UTSW |
1 |
45,542,008 (GRCm39) |
missense |
unknown |
|
|
R6211:Col5a2
|
UTSW |
1 |
45,415,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6407:Col5a2
|
UTSW |
1 |
45,415,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6494:Col5a2
|
UTSW |
1 |
45,417,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6582:Col5a2
|
UTSW |
1 |
45,429,275 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6687:Col5a2
|
UTSW |
1 |
45,422,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Col5a2
|
UTSW |
1 |
45,417,609 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7062:Col5a2
|
UTSW |
1 |
45,456,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7098:Col5a2
|
UTSW |
1 |
45,419,227 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7243:Col5a2
|
UTSW |
1 |
45,415,320 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7326:Col5a2
|
UTSW |
1 |
45,482,027 (GRCm39) |
missense |
unknown |
|
|
R7642:Col5a2
|
UTSW |
1 |
45,415,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7890:Col5a2
|
UTSW |
1 |
45,444,147 (GRCm39) |
splice site |
probably null |
|
|
R8066:Col5a2
|
UTSW |
1 |
45,452,628 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8375:Col5a2
|
UTSW |
1 |
45,481,890 (GRCm39) |
missense |
unknown |
|
|
R8444:Col5a2
|
UTSW |
1 |
45,435,305 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8506:Col5a2
|
UTSW |
1 |
45,481,944 (GRCm39) |
missense |
unknown |
|
|
R8686:Col5a2
|
UTSW |
1 |
45,461,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8907:Col5a2
|
UTSW |
1 |
45,456,106 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8932:Col5a2
|
UTSW |
1 |
45,419,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8933:Col5a2
|
UTSW |
1 |
45,461,123 (GRCm39) |
missense |
|
|
|
R9087:Col5a2
|
UTSW |
1 |
45,481,818 (GRCm39) |
missense |
unknown |
|
|
R9105:Col5a2
|
UTSW |
1 |
45,419,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9282:Col5a2
|
UTSW |
1 |
45,478,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9457:Col5a2
|
UTSW |
1 |
45,431,973 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9457:Col5a2
|
UTSW |
1 |
45,426,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9568:Col5a2
|
UTSW |
1 |
45,430,998 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9727:Col5a2
|
UTSW |
1 |
45,415,818 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0013:Col5a2
|
UTSW |
1 |
45,442,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Col5a2
|
UTSW |
1 |
45,435,644 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1176:Col5a2
|
UTSW |
1 |
45,422,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Col5a2
|
UTSW |
1 |
45,415,306 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Col5a2
|
UTSW |
1 |
45,442,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Col5a2
|
UTSW |
1 |
45,441,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGGAAGCAGTTGAGAATAACTC -3'
(R):5'- TGTCCCCACACAGCATAGTAAG -3'
Sequencing Primer
(F):5'- AGGCCCCTGTCTACTCAC -3'
(R):5'- ACACAGCATAGTAAGCAATTTCG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation