Incidental Mutation 'R1941:Col11a2'
ID 214038
Institutional Source Beutler Lab
Gene Symbol Col11a2
Ensembl Gene ENSMUSG00000024330
Gene Name collagen, type XI, alpha 2
Synonyms
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34258411-34285659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34263925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 247 (S247T)
Ref Sequence ENSEMBL: ENSMUSP00000122082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087497] [ENSMUST00000114252] [ENSMUST00000114255] [ENSMUST00000131134] [ENSMUST00000143354]
AlphaFold Q64739
Predicted Effect unknown
Transcript: ENSMUST00000087497
AA Change: S247T
SMART Domains Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: S247T

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: S247T
SMART Domains Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: S247T

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: S247T
SMART Domains Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: S247T

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
AA Change: S247T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122082
Gene: ENSMUSG00000024330
AA Change: S247T

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: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly 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
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
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'- ACCTGTGGATGCACATGCTG -3'
(R):5'- AGGCTGATGACTGAGGACTG -3'

Sequencing Primer
(F):5'- ACATGCTGCACCGCCTTG -3'
(R):5'- GGAAGTACAGCTGCAGACTAAC -3'
Posted On 2014-07-14