Incidental Mutation 'R1884:Col20a1'
ID 209329
Institutional Source Beutler Lab
Gene Symbol Col20a1
Ensembl Gene ENSMUSG00000016356
Gene Name collagen, type XX, alpha 1
Synonyms 1700051I12Rik
MMRRC Submission 039905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1884 (G1)
Quality Score 213
Status Validated
Chromosome 2
Chromosomal Location 180628328-180660156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 180634703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 131 (T131I)
Ref Sequence ENSEMBL: ENSMUSP00000153871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108856] [ENSMUST00000149179] [ENSMUST00000228434]
AlphaFold Q923P0
Predicted Effect probably benign
Transcript: ENSMUST00000108856
AA Change: T131I

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356
AA Change: T131I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FN3 24 103 2.18e1 SMART
VWA 175 354 4.68e-55 SMART
FN3 375 453 6.2e-7 SMART
FN3 464 543 7.34e-9 SMART
FN3 555 633 8.18e-7 SMART
FN3 644 723 8.98e-4 SMART
FN3 738 817 1.43e-11 SMART
TSPN 840 1035 6.45e-31 SMART
Pfam:Collagen 1067 1125 3.8e-9 PFAM
Pfam:Collagen 1122 1174 7.4e-9 PFAM
Pfam:Collagen 1165 1223 3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149179
AA Change: T131I

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356
AA Change: T131I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FN3 24 103 2.18e1 SMART
VWA 175 354 4.68e-55 SMART
FN3 375 453 6.2e-7 SMART
FN3 464 543 7.34e-9 SMART
FN3 555 633 8.18e-7 SMART
FN3 644 723 8.98e-4 SMART
FN3 738 817 1.43e-11 SMART
TSPN 840 1035 6.45e-31 SMART
low complexity region 1069 1106 N/A INTRINSIC
low complexity region 1108 1121 N/A INTRINSIC
low complexity region 1136 1155 N/A INTRINSIC
Blast:TSPN 1156 1202 2e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000228434
AA Change: T131I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.3%
Validation Efficiency 99% (94/95)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T C 9: 103,991,684 (GRCm39) M573T probably benign Het
Ank3 A G 10: 69,851,422 (GRCm39) T1162A possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arpp21 T A 9: 111,972,595 (GRCm39) D232V probably damaging Het
Atg2a T C 19: 6,304,414 (GRCm39) Y1144H probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Brs3 T C X: 56,092,449 (GRCm39) I311T probably benign Het
Cenpf C T 1: 189,379,046 (GRCm39) V2915I probably benign Het
Cep170 G T 1: 176,602,245 (GRCm39) T287K probably benign Het
Chst2 G A 9: 95,287,611 (GRCm39) T245I probably damaging Het
Cnot4 C T 6: 35,055,092 (GRCm39) V66I probably damaging Het
Cntn4 A G 6: 106,656,353 (GRCm39) T885A probably benign Het
Coro7 G T 16: 4,446,683 (GRCm39) probably benign Het
Cpne8 C A 15: 90,532,831 (GRCm39) probably benign Het
Dbnl G A 11: 5,749,247 (GRCm39) G356E probably benign Het
Ddx31 T A 2: 28,749,002 (GRCm39) I266N probably damaging Het
Dnah7a A T 1: 53,580,159 (GRCm39) I1592N probably damaging Het
Dok6 A T 18: 89,492,130 (GRCm39) L149Q probably damaging Het
Eri2 G A 7: 119,390,346 (GRCm39) T94I probably benign Het
Ermp1 A G 19: 29,594,079 (GRCm39) V697A probably benign Het
Foxc1 C T 13: 31,991,648 (GRCm39) T153M probably damaging Het
Fry A G 5: 150,326,985 (GRCm39) I1224V probably benign Het
Fzd5 G A 1: 64,774,813 (GRCm39) T316M probably damaging Het
Gcm1 G T 9: 77,966,861 (GRCm39) V27L probably benign Het
Gm5773 A T 3: 93,681,348 (GRCm39) D340V probably benign Het
Gucy2d T A 7: 98,100,815 (GRCm39) H379Q probably benign Het
Hectd1 T A 12: 51,847,738 (GRCm39) M392L probably benign Het
Itpr2 A C 6: 146,287,469 (GRCm39) D452E probably benign Het
Krtap2-4 G C 11: 99,505,505 (GRCm39) probably benign Het
Lrit1 T C 14: 36,783,710 (GRCm39) V346A possibly damaging Het
Lrrk1 A G 7: 65,912,185 (GRCm39) S1792P probably benign Het
Marveld2 A T 13: 100,737,129 (GRCm39) V168E probably benign Het
Ms4a4b T A 19: 11,438,629 (GRCm39) D149E probably damaging Het
Myom2 G A 8: 15,164,278 (GRCm39) D1058N probably benign Het
Ncam2 C T 16: 81,234,571 (GRCm39) P142L probably damaging Het
Nek9 A G 12: 85,379,330 (GRCm39) L192P probably damaging Het
Nol10 T C 12: 17,418,390 (GRCm39) probably null Het
Nrcam T C 12: 44,591,538 (GRCm39) V194A probably damaging Het
Nudt6 A G 3: 37,466,549 (GRCm39) V82A probably benign Het
Odf2l A T 3: 144,856,809 (GRCm39) N492I probably damaging Het
Or2a12 T C 6: 42,904,764 (GRCm39) S200P probably damaging Het
Or51f1d T C 7: 102,701,189 (GRCm39) I228T probably benign Het
Pkn3 T C 2: 29,972,840 (GRCm39) V276A probably damaging Het
Prl3b1 T G 13: 27,431,886 (GRCm39) L137R possibly damaging Het
Rab11fip2 A G 19: 59,925,762 (GRCm39) F10L probably damaging Het
Rab3b T A 4: 108,786,649 (GRCm39) V133E probably damaging Het
Rnf111 A T 9: 70,383,520 (GRCm39) S138T probably damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Runx1t1 A G 4: 13,835,767 (GRCm39) T75A probably benign Het
Ryr2 T G 13: 11,753,242 (GRCm39) K1693T probably damaging Het
Sdha A T 13: 74,481,255 (GRCm39) I317N probably damaging Het
Serpina1d T A 12: 103,732,037 (GRCm39) D274V possibly damaging Het
Setd2 T G 9: 110,385,486 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,141,646 (GRCm39) Y1109C probably damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc22a2 A G 17: 12,833,713 (GRCm39) probably benign Het
Slc35f4 A T 14: 49,551,091 (GRCm39) W108R probably damaging Het
Slc4a1ap A G 5: 31,691,524 (GRCm39) E440G probably damaging Het
Slc6a4 A G 11: 76,904,201 (GRCm39) T219A probably benign Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Svil T G 18: 5,094,640 (GRCm39) V1440G possibly damaging Het
Tas2r126 A T 6: 42,411,961 (GRCm39) T165S probably benign Het
Tbck T C 3: 132,430,677 (GRCm39) probably null Het
Tnxb T A 17: 34,908,539 (GRCm39) D1520E probably benign Het
Top1mt C T 15: 75,539,750 (GRCm39) R287H possibly damaging Het
Trdn A G 10: 33,133,091 (GRCm39) K314E probably benign Het
Troap T A 15: 98,975,779 (GRCm39) C233S probably benign Het
Usp28 T C 9: 48,947,247 (GRCm39) M571T probably damaging Het
Vac14 A G 8: 111,438,319 (GRCm39) H644R probably damaging Het
Vipr1 C T 9: 121,494,930 (GRCm39) P327L possibly damaging Het
Vmn1r31 C T 6: 58,449,029 (GRCm39) V279I probably damaging Het
Vmn1r69 G A 7: 10,314,678 (GRCm39) R18W probably benign Het
Vmn2r18 G T 5: 151,499,190 (GRCm39) Q425K probably benign Het
Vmn2r60 T C 7: 41,786,094 (GRCm39) V299A probably damaging Het
Vps13b A T 15: 35,430,437 (GRCm39) probably benign Het
Zfp157 A G 5: 138,443,102 (GRCm39) D31G probably damaging Het
Zfp385c A C 11: 100,521,532 (GRCm39) V176G probably benign Het
Zfp831 A G 2: 174,545,870 (GRCm39) H1325R possibly damaging Het
Other mutations in Col20a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Col20a1 APN 2 180,645,272 (GRCm39) missense possibly damaging 0.93
IGL00975:Col20a1 APN 2 180,634,271 (GRCm39) missense probably damaging 1.00
IGL01094:Col20a1 APN 2 180,641,559 (GRCm39) missense probably damaging 0.99
IGL01388:Col20a1 APN 2 180,645,264 (GRCm39) missense probably benign 0.24
IGL01472:Col20a1 APN 2 180,649,625 (GRCm39) missense probably benign 0.44
IGL01936:Col20a1 APN 2 180,651,161 (GRCm39) splice site probably benign
IGL02133:Col20a1 APN 2 180,648,937 (GRCm39) missense probably damaging 1.00
IGL02318:Col20a1 APN 2 180,648,952 (GRCm39) missense probably damaging 0.99
IGL02576:Col20a1 APN 2 180,655,198 (GRCm39) nonsense probably null
IGL02822:Col20a1 APN 2 180,638,600 (GRCm39) missense probably damaging 1.00
IGL02898:Col20a1 APN 2 180,630,905 (GRCm39) nonsense probably null
IGL03056:Col20a1 APN 2 180,636,682 (GRCm39) missense probably damaging 1.00
IGL03189:Col20a1 APN 2 180,651,200 (GRCm39) nonsense probably null
IGL03196:Col20a1 APN 2 180,649,671 (GRCm39) splice site probably null
R0001:Col20a1 UTSW 2 180,626,205 (GRCm39) unclassified probably benign
R0200:Col20a1 UTSW 2 180,642,231 (GRCm39) missense probably damaging 1.00
R0384:Col20a1 UTSW 2 180,640,955 (GRCm39) missense probably benign 0.00
R0964:Col20a1 UTSW 2 180,626,278 (GRCm39) unclassified probably benign
R0975:Col20a1 UTSW 2 180,648,619 (GRCm39) missense possibly damaging 0.75
R1359:Col20a1 UTSW 2 180,641,585 (GRCm39) missense probably benign 0.02
R1395:Col20a1 UTSW 2 180,640,400 (GRCm39) missense probably damaging 0.99
R1470:Col20a1 UTSW 2 180,636,753 (GRCm39) missense probably benign 0.01
R1470:Col20a1 UTSW 2 180,636,753 (GRCm39) missense probably benign 0.01
R1508:Col20a1 UTSW 2 180,634,370 (GRCm39) missense probably damaging 0.98
R1865:Col20a1 UTSW 2 180,657,606 (GRCm39) missense possibly damaging 0.87
R1883:Col20a1 UTSW 2 180,634,703 (GRCm39) missense possibly damaging 0.52
R1906:Col20a1 UTSW 2 180,640,490 (GRCm39) missense probably benign 0.00
R2020:Col20a1 UTSW 2 180,654,956 (GRCm39) critical splice donor site probably null
R2121:Col20a1 UTSW 2 180,638,249 (GRCm39) missense probably damaging 0.99
R2131:Col20a1 UTSW 2 180,634,366 (GRCm39) missense probably damaging 1.00
R2343:Col20a1 UTSW 2 180,643,124 (GRCm39) missense possibly damaging 0.73
R3153:Col20a1 UTSW 2 180,650,386 (GRCm39) missense probably damaging 1.00
R3430:Col20a1 UTSW 2 180,655,078 (GRCm39) nonsense probably null
R3547:Col20a1 UTSW 2 180,636,704 (GRCm39) missense probably damaging 1.00
R3844:Col20a1 UTSW 2 180,634,242 (GRCm39) missense probably damaging 1.00
R3914:Col20a1 UTSW 2 180,640,285 (GRCm39) missense probably benign 0.00
R4414:Col20a1 UTSW 2 180,643,043 (GRCm39) missense possibly damaging 0.92
R4711:Col20a1 UTSW 2 180,634,284 (GRCm39) missense probably damaging 1.00
R4760:Col20a1 UTSW 2 180,626,196 (GRCm39) unclassified probably benign
R4771:Col20a1 UTSW 2 180,630,917 (GRCm39) missense probably benign 0.17
R4809:Col20a1 UTSW 2 180,640,454 (GRCm39) missense probably damaging 1.00
R4872:Col20a1 UTSW 2 180,639,156 (GRCm39) missense possibly damaging 0.74
R5045:Col20a1 UTSW 2 180,648,638 (GRCm39) missense probably damaging 1.00
R5238:Col20a1 UTSW 2 180,640,379 (GRCm39) missense probably damaging 1.00
R5566:Col20a1 UTSW 2 180,628,316 (GRCm39) splice site probably null
R6389:Col20a1 UTSW 2 180,634,376 (GRCm39) splice site probably null
R6422:Col20a1 UTSW 2 180,656,612 (GRCm39) missense possibly damaging 0.75
R6924:Col20a1 UTSW 2 180,638,643 (GRCm39) missense probably damaging 1.00
R6982:Col20a1 UTSW 2 180,638,499 (GRCm39) missense probably benign 0.00
R7177:Col20a1 UTSW 2 180,636,007 (GRCm39) nonsense probably null
R7195:Col20a1 UTSW 2 180,649,024 (GRCm39) missense probably damaging 1.00
R7717:Col20a1 UTSW 2 180,649,408 (GRCm39) missense probably damaging 1.00
R7872:Col20a1 UTSW 2 180,628,371 (GRCm39) missense probably benign 0.14
R8183:Col20a1 UTSW 2 180,640,207 (GRCm39) missense
R8188:Col20a1 UTSW 2 180,658,126 (GRCm39) critical splice donor site probably null
R8331:Col20a1 UTSW 2 180,638,559 (GRCm39) missense possibly damaging 0.95
R8423:Col20a1 UTSW 2 180,640,498 (GRCm39) missense probably damaging 1.00
R8803:Col20a1 UTSW 2 180,643,131 (GRCm39) missense possibly damaging 0.75
R8849:Col20a1 UTSW 2 180,640,432 (GRCm39) missense probably damaging 1.00
R8855:Col20a1 UTSW 2 180,655,684 (GRCm39) missense
R8885:Col20a1 UTSW 2 180,640,296 (GRCm39) splice site probably benign
R9160:Col20a1 UTSW 2 180,641,538 (GRCm39) missense probably benign
R9223:Col20a1 UTSW 2 180,648,528 (GRCm39) missense probably damaging 1.00
R9697:Col20a1 UTSW 2 180,641,577 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTTCCATGAGGCAGACAGC -3'
(R):5'- GTGAGTCCAGAAACACGACG -3'

Sequencing Primer
(F):5'- CAGCAAGTCTGTGGGGTTGC -3'
(R):5'- GAACTTCTGGCCATATAACAAGAC -3'
Posted On 2014-06-30