Incidental Mutation 'R9148:Col11a2'
ID 713536
Institutional Source Beutler Lab
Gene Symbol Col11a2
Ensembl Gene ENSMUSG00000024330
Gene Name collagen, type XI, alpha 2
Synonyms
MMRRC Submission 068937-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R9148 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34258411-34285659 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 34273119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087497] [ENSMUST00000114252] [ENSMUST00000114255] [ENSMUST00000131134] [ENSMUST00000143354]
AlphaFold Q64739
Predicted Effect probably benign
Transcript: ENSMUST00000087497
SMART Domains Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330

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 probably benign
Transcript: ENSMUST00000114252
SMART Domains Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330

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 probably benign
Transcript: ENSMUST00000114255
SMART Domains Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330

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: ENSMUST00000131134
SMART Domains Protein: ENSMUSP00000122082
Gene: ENSMUSG00000024330

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 303 314 N/A INTRINSIC
low complexity region 342 354 N/A INTRINSIC
Pfam:Collagen 392 450 7.8e-10 PFAM
Pfam:Collagen 484 543 1.4e-10 PFAM
Pfam:Collagen 514 581 9.5e-11 PFAM
Pfam:Collagen 565 624 2.1e-11 PFAM
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (94/98)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T A 3: 68,777,345 (GRCm39) I102N probably damaging Het
2610008E11Rik A T 10: 78,903,406 (GRCm39) C303* probably null Het
A430033K04Rik T A 5: 138,644,547 (GRCm39) V144D possibly damaging Het
Adamts13 T A 2: 26,883,024 (GRCm39) M858K probably benign Het
Ankrd29 T C 18: 12,408,760 (GRCm39) probably benign Het
Arg1 A C 10: 24,796,655 (GRCm39) D57E probably benign Het
Bend4 G A 5: 67,557,415 (GRCm39) T467M probably damaging Het
C1s1 T C 6: 124,517,758 (GRCm39) D74G probably damaging Het
Cacnb2 G A 2: 14,972,773 (GRCm39) G227S possibly damaging Het
Cbs T C 17: 31,844,889 (GRCm39) D137G probably damaging Het
Ccdc136 A G 6: 29,418,070 (GRCm39) E846G probably damaging Het
Cd6 A T 19: 10,776,855 (GRCm39) S57T probably benign Het
Cep20 G A 16: 14,135,222 (GRCm39) probably benign Het
Col7a1 T C 9: 108,789,274 (GRCm39) S829P unknown Het
Ctsj T C 13: 61,149,249 (GRCm39) Y264C probably damaging Het
Dennd3 T A 15: 73,429,463 (GRCm39) N915K probably damaging Het
E2f2 A T 4: 135,908,595 (GRCm39) probably null Het
Eme1 T C 11: 94,538,855 (GRCm39) T342A possibly damaging Het
Epc1 A T 18: 6,453,266 (GRCm39) probably benign Het
Fat1 T C 8: 45,405,682 (GRCm39) V811A possibly damaging Het
Fbxo2 A G 4: 148,250,166 (GRCm39) E232G probably damaging Het
Flnb G T 14: 7,817,996 (GRCm38) probably benign Het
Fmn1 A C 2: 113,271,973 (GRCm39) N114H unknown Het
Foxp2 A T 6: 15,286,711 (GRCm39) Q67L possibly damaging Het
Galntl5 A T 5: 25,415,353 (GRCm39) I295L possibly damaging Het
Gjd4 T A 18: 9,280,095 (GRCm39) T328S probably benign Het
Hint2 A G 4: 43,654,952 (GRCm39) I59T probably damaging Het
Hpn C T 7: 30,802,043 (GRCm39) R252Q probably benign Het
Hspa12a T G 19: 58,793,890 (GRCm39) T324P probably damaging Het
Ighv4-1 A T 12: 113,912,000 (GRCm39) D84E possibly damaging Het
Il1r2 T A 1: 40,151,258 (GRCm39) I171N probably damaging Het
Il31ra C T 13: 112,670,276 (GRCm39) E371K probably benign Het
Klhl24 C T 16: 19,936,690 (GRCm39) R433C probably damaging Het
Klra5 C T 6: 129,886,911 (GRCm39) C39Y probably benign Het
Lypd8l T A 11: 58,499,338 (GRCm39) D160V probably benign Het
Macc1 T C 12: 119,414,091 (GRCm39) S756P possibly damaging Het
Mael A G 1: 166,029,259 (GRCm39) V388A probably benign Het
Mast3 A G 8: 71,233,091 (GRCm39) S1074P probably damaging Het
Med13 A G 11: 86,192,297 (GRCm39) C823R probably benign Het
Megf6 A G 4: 154,339,130 (GRCm39) T556A probably benign Het
Mlip A G 9: 77,045,694 (GRCm39) F14L possibly damaging Het
Moxd2 C A 6: 40,860,978 (GRCm39) C271F probably damaging Het
Myo1e A T 9: 70,283,830 (GRCm39) D842V probably damaging Het
Ndst4 C T 3: 125,231,722 (GRCm39) A97V probably damaging Het
Nherf4 A G 9: 44,160,676 (GRCm39) C240R probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nptx2 A G 5: 144,492,980 (GRCm39) T356A probably benign Het
Nup160 A G 2: 90,533,489 (GRCm39) D646G probably damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or1j19 A G 2: 36,676,938 (GRCm39) T134A probably benign Het
Or1p1 A C 11: 74,180,169 (GRCm39) Q232H probably damaging Het
Or5c1 T C 2: 37,222,017 (GRCm39) L86P possibly damaging Het
Or7h8 T A 9: 20,124,358 (GRCm39) F238I probably damaging Het
Or8k24 A G 2: 86,216,324 (GRCm39) V146A probably benign Het
Osbp2 A G 11: 3,665,143 (GRCm39) L67P probably damaging Het
Pabpc6 C T 17: 9,886,937 (GRCm39) S538N probably benign Het
Pcdhga1 C A 18: 37,796,433 (GRCm39) A479D possibly damaging Het
Pdgfd A T 9: 6,333,328 (GRCm39) D172V probably benign Het
Pfpl A T 19: 12,405,804 (GRCm39) E18D possibly damaging Het
Plat A G 8: 23,268,466 (GRCm39) T373A probably damaging Het
Plekhg1 G A 10: 3,907,527 (GRCm39) D870N Het
Ppp1r13b T C 12: 111,800,268 (GRCm39) H626R probably benign Het
Ppp6r3 A T 19: 3,543,974 (GRCm39) V347D probably damaging Het
Prr12 G T 7: 44,697,242 (GRCm39) P891H unknown Het
Psg22 T A 7: 18,460,682 (GRCm39) I437K probably benign Het
Ptpra T A 2: 30,328,255 (GRCm39) M192K probably damaging Het
Ptpra G T 2: 30,328,256 (GRCm39) M192I probably benign Het
Ptprj G A 2: 90,288,562 (GRCm39) S801L probably benign Het
Relb T C 7: 19,350,276 (GRCm39) Y228C probably damaging Het
Rfx3 A T 19: 27,878,207 (GRCm39) V30E possibly damaging Het
Rgs2 A G 1: 143,877,925 (GRCm39) S124P probably damaging Het
Rph3a T C 5: 121,086,880 (GRCm39) N440S possibly damaging Het
Ryr2 T C 13: 11,900,424 (GRCm39) T104A probably benign Het
Scn7a T C 2: 66,514,507 (GRCm39) D1089G possibly damaging Het
Sebox A G 11: 78,395,222 (GRCm39) D188G possibly damaging Het
Serpinf2 A T 11: 75,323,418 (GRCm39) F429L probably damaging Het
Six4 A C 12: 73,155,681 (GRCm39) S429A probably benign Het
Slc2a10 A T 2: 165,357,543 (GRCm39) H401L possibly damaging Het
Spag16 G C 1: 70,420,459 (GRCm39) L482F probably damaging Het
Ssbp2 T C 13: 91,842,141 (GRCm39) S321P probably damaging Het
Syne2 A G 12: 75,937,158 (GRCm39) E252G probably damaging Het
Synj2 T C 17: 6,084,172 (GRCm39) I1178T probably damaging Het
Tafa5 T C 15: 87,428,775 (GRCm39) I28T probably benign Het
Tmem132b C A 5: 125,864,167 (GRCm39) Q758K probably damaging Het
Tril A G 6: 53,795,137 (GRCm39) L695P probably damaging Het
Ubap1l T C 9: 65,276,603 (GRCm39) L35P probably damaging Het
Vmn1r225 T A 17: 20,722,577 (GRCm39) M6K possibly damaging Het
Vmn1r229 T C 17: 21,034,758 (GRCm39) M1T probably null Het
Vmn2r80 A T 10: 79,030,687 (GRCm39) I838F probably damaging Het
Vmn2r98 T A 17: 19,286,383 (GRCm39) W294R probably benign Het
Wnk1 A G 6: 119,925,631 (GRCm39) S1527P unknown Het
Wnt11 G A 7: 98,488,241 (GRCm39) probably benign Het
Zdhhc17 A T 10: 110,785,503 (GRCm39) S436R possibly damaging Het
Zfp12 T C 5: 143,230,389 (GRCm39) S271P probably damaging 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
R5112:Col11a2 UTSW 17 34,283,062 (GRCm39) unclassified probably benign
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
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'- ACTCTTGGGAAGTCGACACG -3'
(R):5'- TTCAGGCCCCGAATTCCATC -3'

Sequencing Primer
(F):5'- TGTCTTCAGACTGGGGAGCAC -3'
(R):5'- TCCACACCCTAGGAATAGAGG -3'
Posted On 2022-06-09