Incidental Mutation 'IGL02063:Col5a2'
ID185530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col5a2
Ensembl Gene ENSMUSG00000026042
Gene Namecollagen, type V, alpha 2
Synonyms1110014L14Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02063
Quality Score
Status
Chromosome1
Chromosomal Location45374321-45503282 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 45403419 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000083620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086430]
Predicted Effect probably null
Transcript: ENSMUST00000086430
SMART Domains Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b A G 12: 105,648,322 Y1117H possibly damaging Het
B020004C17Rik A G 14: 57,016,023 R24G probably damaging Het
BC005624 A G 2: 30,978,934 M76T probably benign Het
Blm G T 7: 80,509,419 S323* probably null Het
Card19 C A 13: 49,203,131 G181* probably null Het
Cilp2 T C 8: 69,882,865 I494M probably damaging Het
Col6a4 T C 9: 106,057,418 D1431G probably benign Het
Cped1 G A 6: 22,138,702 C560Y probably damaging Het
Cyfip1 T C 7: 55,926,348 S1091P probably damaging Het
Ddx24 A G 12: 103,418,202 I466T probably damaging Het
Dlg2 T A 7: 91,810,476 probably benign Het
Esf1 C A 2: 140,164,457 D257Y possibly damaging Het
Fgfr2 A G 7: 130,167,755 F634S probably damaging Het
Flywch2 A G 17: 23,777,107 probably benign Het
Gbp10 A T 5: 105,236,040 I32N possibly damaging Het
Gli3 A G 13: 15,726,372 D1448G possibly damaging Het
Gm10335 T C 10: 14,523,403 probably benign Het
Gm5724 T C 6: 141,738,889 D280G probably benign Het
Golga5 A T 12: 102,472,159 E44D probably benign Het
H2-M10.1 C T 17: 36,324,009 probably benign Het
Ino80b A T 6: 83,124,162 D141E probably damaging Het
Itpr3 A G 17: 27,120,023 I2593V probably benign Het
Krt73 C T 15: 101,795,769 probably benign Het
Loxl4 G T 19: 42,608,339 L78I probably benign Het
Mbd5 A T 2: 49,274,767 N360I probably damaging Het
Nfat5 A T 8: 107,361,818 M495L probably benign Het
Nrxn3 A T 12: 88,795,795 E204V possibly damaging Het
Olfr1053 G T 2: 86,314,793 F164L possibly damaging Het
Paqr4 A T 17: 23,739,912 C38* probably null Het
Pcdhb13 T A 18: 37,444,229 N553K probably damaging Het
Pcdhb9 T A 18: 37,401,757 M268K probably benign Het
Pdap1 A T 5: 145,135,059 probably benign Het
Phf2 A T 13: 48,821,642 Y281N unknown Het
Phka2 T A X: 160,564,213 I664N possibly damaging Het
Plekha7 A T 7: 116,140,701 D762E possibly damaging Het
Plekhg4 T A 8: 105,379,252 probably benign Het
Ppfia2 A T 10: 106,904,845 Q1006L probably null Het
Pramef8 C A 4: 143,417,851 Q256K probably benign Het
Prmt5 G A 14: 54,511,020 Q197* probably null Het
Prodh A T 16: 18,079,185 probably null Het
Rnft2 A G 5: 118,242,522 probably benign Het
Rp1l1 G T 14: 64,029,536 S857I probably damaging Het
Samd9l A G 6: 3,372,992 F1423S probably damaging Het
Scn3a A G 2: 65,461,510 Y1631H probably damaging Het
Slc22a5 A T 11: 53,875,073 I229K probably damaging Het
Snd1 T A 6: 28,526,221 probably benign Het
Srrm1 G T 4: 135,347,207 probably null Het
Syne2 T C 12: 76,052,100 V5252A probably damaging Het
Tek A G 4: 94,739,645 D2G probably benign Het
Uba1 T C X: 20,679,725 S803P probably damaging Het
Uggt2 A G 14: 119,089,193 I202T possibly damaging Het
Umodl1 A T 17: 30,987,914 I760F probably benign Het
Vgll1 A G X: 57,099,209 probably benign Het
Zadh2 T A 18: 84,095,265 Y355* probably null Het
Zfp236 A G 18: 82,658,151 V347A probably benign Het
Zswim9 T C 7: 13,260,681 E516G probably damaging Het
Other mutations in Col5a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Col5a2 APN 1 45392877 splice site probably benign
IGL00978:Col5a2 APN 1 45376739 missense probably benign 0.01
IGL01366:Col5a2 APN 1 45391888 missense possibly damaging 0.46
IGL01487:Col5a2 APN 1 45376739 missense probably benign 0.01
IGL01820:Col5a2 APN 1 45442825 missense unknown
IGL01980:Col5a2 APN 1 45382233 splice site probably benign
IGL02134:Col5a2 APN 1 45391070 splice site probably null
IGL02233:Col5a2 APN 1 45383587 splice site probably null
IGL02489:Col5a2 APN 1 45392811 splice site probably null
IGL02928:Col5a2 APN 1 45385020 missense probably benign 0.41
IGL02931:Col5a2 APN 1 45385065 missense probably damaging 1.00
IGL03328:Col5a2 APN 1 45376146 missense possibly damaging 0.94
R0022:Col5a2 UTSW 1 45383683 nonsense probably null
R0123:Col5a2 UTSW 1 45407035 missense probably benign 0.28
R0180:Col5a2 UTSW 1 45411460 missense probably damaging 1.00
R0225:Col5a2 UTSW 1 45407035 missense probably benign 0.28
R0455:Col5a2 UTSW 1 45382102 splice site probably benign
R0485:Col5a2 UTSW 1 45378482 missense probably damaging 0.99
R0702:Col5a2 UTSW 1 45380131 missense possibly damaging 0.54
R0745:Col5a2 UTSW 1 45407227 splice site probably null
R1147:Col5a2 UTSW 1 45376771 missense probably damaging 0.99
R1147:Col5a2 UTSW 1 45376771 missense probably damaging 0.99
R1394:Col5a2 UTSW 1 45403419 critical splice donor site probably null
R1494:Col5a2 UTSW 1 45502914 start codon destroyed unknown
R1499:Col5a2 UTSW 1 45411466 missense probably benign 0.00
R1733:Col5a2 UTSW 1 45407032 missense possibly damaging 0.81
R1789:Col5a2 UTSW 1 45378305 critical splice donor site probably null
R1789:Col5a2 UTSW 1 45394776 missense probably damaging 0.98
R2114:Col5a2 UTSW 1 45376804 missense probably damaging 0.98
R2915:Col5a2 UTSW 1 45413496 missense probably damaging 1.00
R3861:Col5a2 UTSW 1 45380237 missense probably damaging 0.98
R4015:Col5a2 UTSW 1 45403471 missense probably benign 0.14
R4944:Col5a2 UTSW 1 45376695 missense possibly damaging 0.75
R4982:Col5a2 UTSW 1 45389458 missense possibly damaging 0.88
R5001:Col5a2 UTSW 1 45502898 missense unknown
R5159:Col5a2 UTSW 1 45386831 critical splice donor site probably null
R5197:Col5a2 UTSW 1 45393081 missense probably benign 0.01
R5407:Col5a2 UTSW 1 45406280 missense possibly damaging 0.54
R5502:Col5a2 UTSW 1 45380126 missense probably damaging 1.00
R5575:Col5a2 UTSW 1 45378482 missense probably damaging 0.99
R5622:Col5a2 UTSW 1 45427059 missense probably benign
R5643:Col5a2 UTSW 1 45390042 missense probably damaging 1.00
R5801:Col5a2 UTSW 1 45389481 critical splice acceptor site probably null
R6075:Col5a2 UTSW 1 45502848 missense unknown
R6211:Col5a2 UTSW 1 45376666 missense probably damaging 0.99
R6407:Col5a2 UTSW 1 45376778 missense probably damaging 0.99
R6494:Col5a2 UTSW 1 45378327 missense probably damaging 0.99
R6582:Col5a2 UTSW 1 45390115 missense possibly damaging 0.91
R6687:Col5a2 UTSW 1 45383604 missense probably damaging 1.00
R7007:Col5a2 UTSW 1 45378449 missense possibly damaging 0.53
R7062:Col5a2 UTSW 1 45417625 missense probably benign 0.00
R7098:Col5a2 UTSW 1 45380067 missense possibly damaging 0.48
R7243:Col5a2 UTSW 1 45376160 missense probably benign 0.39
R7326:Col5a2 UTSW 1 45442867 missense unknown
R7332:Col5a2 UTSW 1 45380165 missense probably damaging 1.00
X0013:Col5a2 UTSW 1 45403258 critical splice donor site probably null
Posted On2014-05-07