Incidental Mutation 'R5112:Col11a2'
ID 393976
Institutional Source Beutler Lab
Gene Symbol Col11a2
Ensembl Gene ENSMUSG00000024330
Gene Name collagen, type XI, alpha 2
Synonyms
MMRRC Submission 042700-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R5112 (G1)
Quality Score 196
Status Not validated
Chromosome 17
Chromosomal Location 34258411-34285659 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 34283062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087497] [ENSMUST00000114252] [ENSMUST00000114255] [ENSMUST00000143354]
AlphaFold Q64739
Predicted Effect unknown
Transcript: ENSMUST00000087497
AA Change: V1430A
SMART Domains Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: V1430A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
TSPN 31 214 4.25e-72 SMART
LamG 82 213 1.08e-9 SMART
Pfam:Collagen 306 364 2.2e-9 PFAM
Pfam:Collagen 399 460 1e-10 PFAM
Pfam:Collagen 437 520 1.2e-7 PFAM
Pfam:Collagen 479 553 5.7e-9 PFAM
Pfam:Collagen 506 579 1.6e-8 PFAM
internal_repeat_4 584 614 3.98e-5 PROSPERO
internal_repeat_2 584 669 5.49e-20 PROSPERO
internal_repeat_1 587 740 2.58e-22 PROSPERO
Pfam:Collagen 743 814 1.5e-8 PFAM
Pfam:Collagen 767 839 4.8e-7 PFAM
low complexity region 854 872 N/A INTRINSIC
Pfam:Collagen 881 946 4.5e-8 PFAM
Pfam:Collagen 905 976 2e-7 PFAM
Pfam:Collagen 933 1002 2.7e-8 PFAM
low complexity region 1013 1047 N/A INTRINSIC
low complexity region 1064 1112 N/A INTRINSIC
low complexity region 1121 1199 N/A INTRINSIC
low complexity region 1216 1232 N/A INTRINSIC
low complexity region 1289 1320 N/A INTRINSIC
Pfam:Collagen 1358 1417 1.7e-8 PFAM
COLFI 1454 1649 4.42e-117 SMART
Predicted Effect unknown
Transcript: ENSMUST00000114252
AA Change: V1435A
SMART Domains Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: V1435A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
TSPN 31 214 4.25e-72 SMART
LamG 82 213 1.08e-9 SMART
Pfam:Collagen 311 369 2.3e-9 PFAM
Pfam:Collagen 404 465 1.1e-10 PFAM
Pfam:Collagen 442 525 1.3e-7 PFAM
Pfam:Collagen 484 558 6.4e-9 PFAM
Pfam:Collagen 511 584 1.7e-8 PFAM
internal_repeat_4 589 619 3.69e-5 PROSPERO
internal_repeat_2 589 674 4.46e-20 PROSPERO
internal_repeat_1 592 745 2.05e-22 PROSPERO
internal_repeat_3 636 752 7.84e-10 PROSPERO
Pfam:Collagen 772 844 5.5e-7 PFAM
Pfam:Collagen 800 869 1.9e-8 PFAM
Pfam:Collagen 886 951 5e-8 PFAM
Pfam:Collagen 910 981 2.2e-7 PFAM
Pfam:Collagen 934 1007 6.9e-7 PFAM
low complexity region 1018 1052 N/A INTRINSIC
low complexity region 1069 1117 N/A INTRINSIC
low complexity region 1126 1204 N/A INTRINSIC
low complexity region 1221 1237 N/A INTRINSIC
low complexity region 1294 1325 N/A INTRINSIC
Pfam:Collagen 1363 1422 1.9e-8 PFAM
COLFI 1459 1654 4.42e-117 SMART
Predicted Effect unknown
Transcript: ENSMUST00000114255
AA Change: V1469A
SMART Domains Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: V1469A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
TSPN 31 214 4.25e-72 SMART
LamG 82 213 1.08e-9 SMART
low complexity region 257 268 N/A INTRINSIC
low complexity region 295 307 N/A INTRINSIC
Pfam:Collagen 345 403 2.1e-9 PFAM
Pfam:Collagen 438 499 1.1e-10 PFAM
Pfam:Collagen 521 593 2.2e-8 PFAM
Pfam:Collagen 545 613 9.1e-10 PFAM
internal_repeat_4 623 653 2.83e-5 PROSPERO
internal_repeat_2 623 708 2.11e-20 PROSPERO
internal_repeat_1 626 779 9e-23 PROSPERO
internal_repeat_3 670 786 5.16e-10 PROSPERO
low complexity region 788 819 N/A INTRINSIC
low complexity region 830 857 N/A INTRINSIC
low complexity region 866 887 N/A INTRINSIC
low complexity region 893 911 N/A INTRINSIC
low complexity region 919 935 N/A INTRINSIC
Pfam:Collagen 973 1041 2.9e-8 PFAM
low complexity region 1052 1086 N/A INTRINSIC
low complexity region 1103 1151 N/A INTRINSIC
low complexity region 1160 1238 N/A INTRINSIC
low complexity region 1255 1271 N/A INTRINSIC
low complexity region 1328 1359 N/A INTRINSIC
Pfam:Collagen 1394 1456 1.5e-8 PFAM
COLFI 1493 1688 4.42e-117 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143354
SMART Domains Protein: ENSMUSP00000115026
Gene: ENSMUSG00000024330

DomainStartEndE-ValueType
Pfam:Collagen 3 56 4.7e-9 PFAM
Pfam:Collagen 91 152 1.7e-9 PFAM
internal_repeat_1 158 301 3.7e-11 PROSPERO
internal_repeat_2 276 321 1.18e-9 PROSPERO
internal_repeat_4 291 306 1.06e-5 PROSPERO
internal_repeat_3 303 353 1.87e-6 PROSPERO
internal_repeat_2 315 360 1.18e-9 PROSPERO
internal_repeat_1 323 439 3.7e-11 PROSPERO
low complexity region 441 472 N/A INTRINSIC
low complexity region 483 510 N/A INTRINSIC
low complexity region 519 540 N/A INTRINSIC
low complexity region 546 564 N/A INTRINSIC
low complexity region 572 588 N/A INTRINSIC
Pfam:Collagen 603 673 6.6e-6 PFAM
Pfam:Collagen 627 694 5.4e-7 PFAM
Pfam:Collagen 660 734 3.2e-7 PFAM
Pfam:Collagen 711 770 1.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144927
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha-2 subunit of type XI collagen, one of the low abundance fibrillar collagens found in cartilage. The encoded protein, in association with other collagen subunits, forms a heterotrimeric type XI procollagen that may undergo proteolytic processing similar to the alpha-1 subunit. Mice lacking the encoded protein exhibit a mild phenotype similar to nonocular Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED) as well as a nonsyndromic form of deafness called DFNA13. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutant animals exhibit reduced body size, short snout, a slightly bulged forehead, deafness, and disorganization of chondrocytes in the growth plate of long bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,328,383 (GRCm39) K846R probably damaging Het
Acsbg3 T A 17: 57,184,465 (GRCm39) M80K probably benign Het
Acsm5 A G 7: 119,136,502 (GRCm39) K358E possibly damaging Het
Adam26a A T 8: 44,021,893 (GRCm39) D532E probably benign Het
Adamts19 C T 18: 59,164,876 (GRCm39) R993* probably null Het
Akr1c13 A G 13: 4,244,151 (GRCm39) K68R possibly damaging Het
Amer3 T A 1: 34,626,157 (GRCm39) M132K possibly damaging Het
Ankrd2 A G 19: 42,028,326 (GRCm39) D38G possibly damaging Het
Ano7 G A 1: 93,325,085 (GRCm39) V546M possibly damaging Het
Aox1 G A 1: 58,349,254 (GRCm39) probably null Het
Apc T A 18: 34,449,162 (GRCm39) C1985* probably null Het
Astn1 C T 1: 158,484,763 (GRCm39) S15F possibly damaging Het
Atp13a4 A T 16: 29,228,686 (GRCm39) N950K possibly damaging Het
Bcl6 A G 16: 23,791,496 (GRCm39) V286A probably benign Het
Brox T A 1: 183,073,541 (GRCm39) T79S probably benign Het
C2cd3 A T 7: 100,092,692 (GRCm39) I512F possibly damaging Het
Camta1 A G 4: 151,158,511 (GRCm39) L542S probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Card10 C T 15: 78,686,580 (GRCm39) probably null Het
Cd96 A G 16: 45,919,301 (GRCm39) M240T probably benign Het
Cdc123 A G 2: 5,809,748 (GRCm39) L221P possibly damaging Het
Cdh19 A G 1: 110,882,354 (GRCm39) V46A possibly damaging Het
Clcn3 G A 8: 61,407,586 (GRCm39) H24Y probably benign Het
Cpsf3 A T 12: 21,341,785 (GRCm39) M50L probably benign Het
Csf3 T A 11: 98,593,749 (GRCm39) L197Q probably damaging Het
Ctsw T A 19: 5,516,285 (GRCm39) D196V probably damaging Het
Dcun1d3 A T 7: 119,457,250 (GRCm39) I154K probably damaging Het
Ddr1 T C 17: 35,993,377 (GRCm39) T877A probably benign Het
Dnah8 T A 17: 30,950,012 (GRCm39) L1944I probably benign Het
Dpf3 G T 12: 83,417,385 (GRCm39) S29* probably null Het
Ephb1 A G 9: 101,848,378 (GRCm39) I640T probably damaging Het
Fat1 G A 8: 45,477,319 (GRCm39) G2099S probably damaging Het
Fbxo41 G T 6: 85,454,906 (GRCm39) N667K probably damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gart A T 16: 91,430,933 (GRCm39) D376E probably benign Het
Glyr1 G A 16: 4,836,740 (GRCm39) Q475* probably null Het
Gm28051 G A 12: 102,686,430 (GRCm39) Q77* probably null Het
Gnmt C A 17: 47,037,256 (GRCm39) R176L probably damaging Het
Gpr176 A T 2: 118,110,629 (GRCm39) V210D possibly damaging Het
Gtf2ird1 A T 5: 134,431,038 (GRCm39) D339E probably damaging Het
Hmbox1 A G 14: 65,063,061 (GRCm39) Y372H probably damaging Het
Ier2 G T 8: 85,389,361 (GRCm39) A7E probably damaging Het
Il20ra A G 10: 19,634,691 (GRCm39) T311A possibly damaging Het
Il24 T C 1: 130,811,179 (GRCm39) probably null Het
Insl6 G A 19: 29,298,996 (GRCm39) Q139* probably null Het
Itga2b A T 11: 102,349,017 (GRCm39) I729K probably damaging Het
Itpr2 A T 6: 146,135,489 (GRCm39) M1814K possibly damaging Het
Klhl3 G A 13: 58,166,703 (GRCm39) S429F probably damaging Het
Lipo2 T C 19: 33,725,865 (GRCm39) N129S probably benign Het
Lrba C T 3: 86,132,678 (GRCm39) T28M probably benign Het
Ly86 G T 13: 37,559,013 (GRCm39) G71C probably damaging Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mical2 A G 7: 111,919,818 (GRCm39) S443G probably damaging Het
Mmp17 A G 5: 129,679,229 (GRCm39) H376R possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myo7b T C 18: 32,116,640 (GRCm39) H989R probably damaging Het
Neil2 A G 14: 63,425,909 (GRCm39) W154R probably damaging Het
Nlrp12 G A 7: 3,289,613 (GRCm39) H300Y possibly damaging Het
Nlrp3 A T 11: 59,439,554 (GRCm39) Y377F probably damaging Het
Notch2 T C 3: 98,008,952 (GRCm39) probably null Het
Nudcd1 A T 15: 44,240,039 (GRCm39) C500* probably null Het
Or5b24 T C 19: 12,912,180 (GRCm39) V26A probably benign Het
Or5d37 A G 2: 87,923,353 (GRCm39) V309A probably damaging Het
Or8g18 A G 9: 39,149,717 (GRCm39) M1T probably null Het
Or8h9 A T 2: 86,789,698 (GRCm39) Y35N probably damaging Het
Pabpc6 T A 17: 9,888,540 (GRCm39) S4C probably damaging Het
Pan2 C T 10: 128,151,464 (GRCm39) R835* probably null Het
Parp9 G A 16: 35,784,683 (GRCm39) V346I probably damaging Het
Pcbp4 C T 9: 106,337,917 (GRCm39) T69M probably damaging Het
Pclo T A 5: 14,727,896 (GRCm39) probably benign Het
Phldb3 A T 7: 24,324,110 (GRCm39) I495F possibly damaging Het
Plce1 G T 19: 38,640,277 (GRCm39) V508F probably benign Het
Pmpca A T 2: 26,285,178 (GRCm39) I468F probably damaging Het
Pmpcb G A 5: 21,961,441 (GRCm39) R399H probably damaging Het
Ptprc A G 1: 138,022,037 (GRCm39) S544P probably damaging Het
Rev3l T A 10: 39,699,326 (GRCm39) D1274E probably benign Het
Ryr3 A T 2: 112,733,010 (GRCm39) V612E probably damaging Het
Scfd2 G T 5: 74,366,982 (GRCm39) H639Q probably benign Het
Sell T A 1: 163,892,887 (GRCm39) H34Q possibly damaging Het
Setd2 A G 9: 110,377,226 (GRCm39) D347G probably benign Het
Sgip1 G A 4: 102,726,966 (GRCm39) D81N probably damaging Het
Slc12a1 A T 2: 125,060,144 (GRCm39) I940F possibly damaging Het
Slc25a34 T A 4: 141,348,769 (GRCm39) I232L probably benign Het
Slc36a3 T A 11: 55,039,399 (GRCm39) K76N probably damaging Het
Slc6a15 T A 10: 103,225,087 (GRCm39) D58E probably benign Het
Slc6a7 T C 18: 61,140,448 (GRCm39) S195G probably null Het
Svep1 G A 4: 58,068,610 (GRCm39) Q3059* probably null Het
Syce1l A C 8: 114,378,274 (GRCm39) H56P probably damaging Het
Tbc1d2 A G 4: 46,606,503 (GRCm39) V814A probably damaging Het
Tbx18 T A 9: 87,597,740 (GRCm39) I265F probably damaging Het
Thbs2 T C 17: 14,890,852 (GRCm39) probably null Het
Ttll1 T C 15: 83,380,597 (GRCm39) H256R probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttyh2 A T 11: 114,587,583 (GRCm39) T195S probably benign Het
Unc119b A G 5: 115,263,553 (GRCm39) L217P probably damaging Het
Unc5a T C 13: 55,151,231 (GRCm39) probably null Het
Usp6nl A G 2: 6,425,714 (GRCm39) K152E probably benign Het
Vcam1 T C 3: 115,910,941 (GRCm39) R486G probably benign Het
Vmn2r1 A C 3: 63,997,544 (GRCm39) Q400P possibly damaging Het
Vmn2r80 T A 10: 79,030,292 (GRCm39) V706D possibly damaging Het
Vmn2r87 A T 10: 130,314,422 (GRCm39) L388Q probably damaging Het
Vwa3a A T 7: 120,383,208 (GRCm39) Y603F probably damaging Het
Zfp850 A T 7: 27,689,658 (GRCm39) C183* probably null Het
Other mutations in Col11a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01723:Col11a2 APN 17 34,280,254 (GRCm39) unclassified probably benign
IGL01839:Col11a2 APN 17 34,283,056 (GRCm39) unclassified probably benign
IGL02429:Col11a2 APN 17 34,261,266 (GRCm39) missense probably damaging 1.00
IGL02491:Col11a2 APN 17 34,283,181 (GRCm39) unclassified probably benign
BB010:Col11a2 UTSW 17 34,275,029 (GRCm39) nonsense probably null
BB020:Col11a2 UTSW 17 34,275,029 (GRCm39) nonsense probably null
PIT4531001:Col11a2 UTSW 17 34,265,412 (GRCm39) critical splice acceptor site probably null
R0001:Col11a2 UTSW 17 34,280,586 (GRCm39) missense probably benign 0.00
R0005:Col11a2 UTSW 17 34,281,853 (GRCm39) unclassified probably benign
R0099:Col11a2 UTSW 17 34,268,648 (GRCm39) missense probably damaging 0.99
R0106:Col11a2 UTSW 17 34,276,249 (GRCm39) missense probably damaging 0.99
R0243:Col11a2 UTSW 17 34,281,520 (GRCm39) unclassified probably benign
R0254:Col11a2 UTSW 17 34,283,777 (GRCm39) unclassified probably benign
R0352:Col11a2 UTSW 17 34,261,501 (GRCm39) missense probably benign 0.43
R0362:Col11a2 UTSW 17 34,281,420 (GRCm39) splice site probably null
R0491:Col11a2 UTSW 17 34,261,186 (GRCm39) missense probably null 0.00
R0531:Col11a2 UTSW 17 34,277,351 (GRCm39) splice site probably benign
R0538:Col11a2 UTSW 17 34,270,302 (GRCm39) splice site probably benign
R0646:Col11a2 UTSW 17 34,278,322 (GRCm39) critical splice donor site probably null
R0676:Col11a2 UTSW 17 34,276,249 (GRCm39) missense probably damaging 0.99
R0919:Col11a2 UTSW 17 34,278,124 (GRCm39) missense possibly damaging 0.93
R1522:Col11a2 UTSW 17 34,274,228 (GRCm39) missense probably damaging 1.00
R1767:Col11a2 UTSW 17 34,282,869 (GRCm39) unclassified probably benign
R1872:Col11a2 UTSW 17 34,281,529 (GRCm39) unclassified probably benign
R1941:Col11a2 UTSW 17 34,263,925 (GRCm39) missense probably benign 0.01
R1945:Col11a2 UTSW 17 34,278,142 (GRCm39) missense probably damaging 1.00
R2101:Col11a2 UTSW 17 34,271,143 (GRCm39) missense probably damaging 1.00
R2161:Col11a2 UTSW 17 34,283,771 (GRCm39) unclassified probably benign
R2258:Col11a2 UTSW 17 34,258,651 (GRCm39) missense probably benign
R2259:Col11a2 UTSW 17 34,258,651 (GRCm39) missense probably benign
R2260:Col11a2 UTSW 17 34,258,651 (GRCm39) missense probably benign
R2761:Col11a2 UTSW 17 34,270,000 (GRCm39) missense probably damaging 1.00
R3114:Col11a2 UTSW 17 34,265,442 (GRCm39) missense possibly damaging 0.69
R3824:Col11a2 UTSW 17 34,273,154 (GRCm39) missense probably damaging 1.00
R3938:Col11a2 UTSW 17 34,258,599 (GRCm39) unclassified probably benign
R4039:Col11a2 UTSW 17 34,264,748 (GRCm39) missense probably benign 0.00
R4675:Col11a2 UTSW 17 34,283,267 (GRCm39) critical splice donor site probably null
R4810:Col11a2 UTSW 17 34,276,086 (GRCm39) missense probably damaging 0.99
R4824:Col11a2 UTSW 17 34,269,937 (GRCm39) missense probably damaging 1.00
R4944:Col11a2 UTSW 17 34,261,164 (GRCm39) missense possibly damaging 0.47
R5355:Col11a2 UTSW 17 34,270,775 (GRCm39) missense probably benign 0.07
R5384:Col11a2 UTSW 17 34,278,148 (GRCm39) critical splice donor site probably null
R5534:Col11a2 UTSW 17 34,269,998 (GRCm39) missense probably damaging 0.99
R5860:Col11a2 UTSW 17 34,283,159 (GRCm39) unclassified probably benign
R6252:Col11a2 UTSW 17 34,261,186 (GRCm39) missense probably null 0.00
R6327:Col11a2 UTSW 17 34,262,291 (GRCm39) missense probably benign 0.32
R6828:Col11a2 UTSW 17 34,272,607 (GRCm39) splice site probably null
R6860:Col11a2 UTSW 17 34,272,572 (GRCm39) missense probably damaging 1.00
R6873:Col11a2 UTSW 17 34,283,993 (GRCm39) missense unknown
R6992:Col11a2 UTSW 17 34,266,118 (GRCm39) missense probably benign 0.01
R7292:Col11a2 UTSW 17 34,270,482 (GRCm39) missense unknown
R7543:Col11a2 UTSW 17 34,269,430 (GRCm39) missense unknown
R7933:Col11a2 UTSW 17 34,275,029 (GRCm39) nonsense probably null
R8157:Col11a2 UTSW 17 34,280,230 (GRCm39) missense unknown
R8161:Col11a2 UTSW 17 34,270,264 (GRCm39) missense unknown
R8209:Col11a2 UTSW 17 34,266,253 (GRCm39) critical splice donor site probably null
R8493:Col11a2 UTSW 17 34,278,936 (GRCm39) missense possibly damaging 0.82
R8705:Col11a2 UTSW 17 34,268,769 (GRCm39) missense unknown
R8901:Col11a2 UTSW 17 34,262,254 (GRCm39) missense probably damaging 1.00
R8946:Col11a2 UTSW 17 34,270,757 (GRCm39) missense probably benign 0.40
R9010:Col11a2 UTSW 17 34,283,760 (GRCm39) missense unknown
R9108:Col11a2 UTSW 17 34,276,634 (GRCm39) missense probably benign 0.21
R9138:Col11a2 UTSW 17 34,279,847 (GRCm39) missense
R9147:Col11a2 UTSW 17 34,273,119 (GRCm39) splice site probably benign
R9148:Col11a2 UTSW 17 34,273,119 (GRCm39) splice site probably benign
R9338:Col11a2 UTSW 17 34,266,204 (GRCm39) missense unknown
R9485:Col11a2 UTSW 17 34,258,669 (GRCm39) missense unknown
X0017:Col11a2 UTSW 17 34,278,959 (GRCm39) critical splice donor site probably null
X0064:Col11a2 UTSW 17 34,261,221 (GRCm39) missense possibly damaging 0.88
Z1176:Col11a2 UTSW 17 34,275,376 (GRCm39) missense unknown
Z1177:Col11a2 UTSW 17 34,270,640 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- ATTCCTTTGTTAGGGCCCAGC -3'
(R):5'- ACAGCTTCAAGTCCTGGCAG -3'

Sequencing Primer
(F):5'- TTGTTAGGGCCCAGCTGGAC -3'
(R):5'- AAGTCCTGGCAGGTGCGAG -3'
Posted On 2016-06-15