Incidental Mutation 'R1452:Colgalt2'
ID 161042
Institutional Source Beutler Lab
Gene Symbol Colgalt2
Ensembl Gene ENSMUSG00000032649
Gene Name collagen beta(1-O)galactosyltransferase 2
Synonyms Glt25d2
MMRRC Submission 039507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R1452 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 152399830-152510695 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 152504153 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 448 (L448M)
Ref Sequence ENSEMBL: ENSMUSP00000037532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044311] [ENSMUST00000127586]
AlphaFold Q6NVG7
Predicted Effect probably damaging
Transcript: ENSMUST00000044311
AA Change: L448M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: L448M

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Glyco_tranf_2_4 61 181 1.3e-20 PFAM
Pfam:Glyco_transf_25 340 525 5.8e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127586
AA Change: L448M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: L448M

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Glyco_tranf_2_4 61 181 4.3e-17 PFAM
Pfam:Glyco_transf_25 340 466 3.2e-37 PFAM
Meta Mutation Damage Score 0.4127 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T C 1: 93,152,939 (GRCm38) Y415C probably damaging Het
2810474O19Rik A T 6: 149,326,632 (GRCm38) K392I probably damaging Het
A2m A G 6: 121,678,056 (GRCm38) I1446M probably benign Het
Acaca T A 11: 84,295,059 (GRCm38) probably benign Het
Adgre4 A T 17: 55,784,996 (GRCm38) E85D probably benign Het
Akt3 A T 1: 177,131,067 (GRCm38) Y26N possibly damaging Het
Arl15 T C 13: 113,967,783 (GRCm38) V132A probably benign Het
Atp6v1h A G 1: 5,098,137 (GRCm38) probably benign Het
Atrip T A 9: 109,072,659 (GRCm38) D110V probably damaging Het
Bahcc1 T G 11: 120,282,239 (GRCm38) probably benign Het
Cd53 C T 3: 106,768,959 (GRCm38) G31S probably damaging Het
Cdk14 T C 5: 4,888,927 (GRCm38) S404G possibly damaging Het
Cers3 A T 7: 66,783,404 (GRCm38) K156N probably damaging Het
Cox15 G T 19: 43,746,905 (GRCm38) T141K probably damaging Het
Csnk2a2 C T 8: 95,457,375 (GRCm38) probably benign Het
Cyp2b10 A T 7: 25,925,388 (GRCm38) probably benign Het
Cyp2c55 A G 19: 39,011,090 (GRCm38) Y80C probably damaging Het
Depdc1a A G 3: 159,526,691 (GRCm38) Y693C possibly damaging Het
Des T C 1: 75,363,477 (GRCm38) S343P probably damaging Het
Dync1i2 T C 2: 71,249,863 (GRCm38) probably benign Het
Eif3m T A 2: 105,006,777 (GRCm38) Q199L probably damaging Het
Emsy G T 7: 98,600,674 (GRCm38) T802K probably damaging Het
Endov A G 11: 119,491,825 (GRCm38) T33A probably damaging Het
Epb41l5 G A 1: 119,549,166 (GRCm38) T728I probably damaging Het
Fbxo39 A G 11: 72,318,402 (GRCm38) I363V probably benign Het
Gm8674 C T 13: 49,900,517 (GRCm38) noncoding transcript Het
Gm9733 G T 3: 15,332,152 (GRCm38) T24K unknown Het
Il6st T A 13: 112,481,464 (GRCm38) N137K possibly damaging Het
Inf2 A G 12: 112,601,344 (GRCm38) N136S probably damaging Het
Iqub A T 6: 24,491,559 (GRCm38) I376N probably benign Het
Kansl3 A G 1: 36,354,793 (GRCm38) probably benign Het
Kbtbd2 A T 6: 56,781,924 (GRCm38) H71Q probably damaging Het
Lgals8 G T 13: 12,453,327 (GRCm38) Y140* probably null Het
Macf1 T A 4: 123,493,998 (GRCm38) I924L probably benign Het
Mcoln2 A T 3: 146,181,814 (GRCm38) T329S possibly damaging Het
Mex3d A T 10: 80,381,520 (GRCm38) L621Q probably damaging Het
Mut A G 17: 40,937,468 (GRCm38) probably benign Het
Ncor1 T C 11: 62,334,631 (GRCm38) H1038R probably damaging Het
Neb A G 2: 52,271,297 (GRCm38) probably null Het
Ngrn A G 7: 80,264,772 (GRCm38) T224A probably benign Het
Nin G A 12: 70,017,650 (GRCm38) R2019* probably null Het
Nphp4 C G 4: 152,547,018 (GRCm38) Q792E probably damaging Het
Olfr1047 T A 2: 86,228,455 (GRCm38) N172I probably damaging Het
Olfr1166 C T 2: 88,124,311 (GRCm38) V225I probably benign Het
Olfr140 C T 2: 90,051,671 (GRCm38) V218I possibly damaging Het
Olfr373 C T 8: 72,100,176 (GRCm38) Q139* probably null Het
Olfr70 C T 4: 43,696,823 (GRCm38) V117M probably benign Het
Pde4dip C A 3: 97,724,102 (GRCm38) V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 (GRCm38) probably benign Het
Pole2 G A 12: 69,207,929 (GRCm38) L381F probably benign Het
Ppp2r5e A G 12: 75,469,536 (GRCm38) probably benign Het
Prim2 T A 1: 33,630,404 (GRCm38) E163D probably benign Het
Prrc2b A T 2: 32,194,985 (GRCm38) D296V probably damaging Het
Pter A G 2: 12,978,621 (GRCm38) probably benign Het
Robo2 C A 16: 73,961,910 (GRCm38) V662L probably damaging Het
Slco1b2 A T 6: 141,672,200 (GRCm38) I424F probably benign Het
Snx29 A T 16: 11,631,471 (GRCm38) H260L probably damaging Het
Stil A G 4: 115,039,195 (GRCm38) N959S probably benign Het
Taar8c A T 10: 24,101,610 (GRCm38) D101E probably benign Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Trpc6 G A 9: 8,653,147 (GRCm38) M573I probably damaging Het
Tsr1 A T 11: 74,899,599 (GRCm38) D171V probably benign Het
Ube4b T C 4: 149,371,169 (GRCm38) T348A probably damaging Het
Vmn1r85 A T 7: 13,084,881 (GRCm38) I112N probably damaging Het
Vps36 A G 8: 22,218,210 (GRCm38) probably null Het
Wdfy3 G A 5: 101,937,738 (GRCm38) A630V possibly damaging Het
Wdsub1 A T 2: 59,876,800 (GRCm38) D14E probably null Het
Ylpm1 T C 12: 85,030,383 (GRCm38) I1294T possibly damaging Het
Zdhhc17 A G 10: 110,955,075 (GRCm38) F378L probably benign Het
Other mutations in Colgalt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Colgalt2 APN 1 152,506,878 (GRCm38) missense probably damaging 0.98
IGL02900:Colgalt2 APN 1 152,508,730 (GRCm38) missense probably damaging 0.99
R0280:Colgalt2 UTSW 1 152,508,561 (GRCm38) missense possibly damaging 0.68
R0282:Colgalt2 UTSW 1 152,508,561 (GRCm38) missense possibly damaging 0.68
R0328:Colgalt2 UTSW 1 152,473,108 (GRCm38) missense probably damaging 1.00
R0409:Colgalt2 UTSW 1 152,508,561 (GRCm38) missense possibly damaging 0.68
R0412:Colgalt2 UTSW 1 152,508,561 (GRCm38) missense possibly damaging 0.68
R0485:Colgalt2 UTSW 1 152,484,871 (GRCm38) missense probably damaging 1.00
R0518:Colgalt2 UTSW 1 152,508,561 (GRCm38) missense possibly damaging 0.68
R0519:Colgalt2 UTSW 1 152,508,561 (GRCm38) missense possibly damaging 0.68
R0556:Colgalt2 UTSW 1 152,471,813 (GRCm38) splice site probably benign
R0605:Colgalt2 UTSW 1 152,495,792 (GRCm38) splice site probably benign
R0628:Colgalt2 UTSW 1 152,508,561 (GRCm38) missense possibly damaging 0.68
R0972:Colgalt2 UTSW 1 152,471,744 (GRCm38) missense probably damaging 1.00
R1170:Colgalt2 UTSW 1 152,503,017 (GRCm38) missense probably damaging 1.00
R1373:Colgalt2 UTSW 1 152,473,161 (GRCm38) missense probably damaging 1.00
R1456:Colgalt2 UTSW 1 152,484,904 (GRCm38) missense probably damaging 1.00
R1544:Colgalt2 UTSW 1 152,484,952 (GRCm38) missense probably damaging 1.00
R1707:Colgalt2 UTSW 1 152,400,363 (GRCm38) missense probably damaging 1.00
R2285:Colgalt2 UTSW 1 152,468,550 (GRCm38) missense probably benign 0.00
R2917:Colgalt2 UTSW 1 152,471,744 (GRCm38) missense probably damaging 1.00
R3916:Colgalt2 UTSW 1 152,508,611 (GRCm38) nonsense probably null
R3917:Colgalt2 UTSW 1 152,508,611 (GRCm38) nonsense probably null
R4250:Colgalt2 UTSW 1 152,489,887 (GRCm38) missense probably benign 0.00
R4282:Colgalt2 UTSW 1 152,468,531 (GRCm38) missense probably damaging 1.00
R4421:Colgalt2 UTSW 1 152,485,012 (GRCm38) missense probably damaging 0.99
R4583:Colgalt2 UTSW 1 152,506,876 (GRCm38) missense probably damaging 1.00
R4743:Colgalt2 UTSW 1 152,400,343 (GRCm38) missense probably damaging 0.97
R4751:Colgalt2 UTSW 1 152,489,876 (GRCm38) missense probably benign 0.34
R4832:Colgalt2 UTSW 1 152,484,998 (GRCm38) missense possibly damaging 0.87
R4930:Colgalt2 UTSW 1 152,499,959 (GRCm38) missense possibly damaging 0.92
R5319:Colgalt2 UTSW 1 152,484,869 (GRCm38) missense possibly damaging 0.78
R5504:Colgalt2 UTSW 1 152,400,303 (GRCm38) missense possibly damaging 0.88
R5916:Colgalt2 UTSW 1 152,504,122 (GRCm38) missense probably damaging 1.00
R6006:Colgalt2 UTSW 1 152,473,161 (GRCm38) missense probably damaging 1.00
R6362:Colgalt2 UTSW 1 152,471,798 (GRCm38) missense probably damaging 1.00
R6837:Colgalt2 UTSW 1 152,506,828 (GRCm38) missense probably damaging 1.00
R7464:Colgalt2 UTSW 1 152,504,144 (GRCm38) missense probably damaging 0.97
R8462:Colgalt2 UTSW 1 152,503,072 (GRCm38) missense probably damaging 1.00
R8725:Colgalt2 UTSW 1 152,484,911 (GRCm38) missense probably damaging 0.99
R8727:Colgalt2 UTSW 1 152,484,911 (GRCm38) missense probably damaging 0.99
R9118:Colgalt2 UTSW 1 152,503,155 (GRCm38) intron probably benign
R9186:Colgalt2 UTSW 1 152,508,652 (GRCm38) missense probably damaging 0.98
R9393:Colgalt2 UTSW 1 152,484,847 (GRCm38) nonsense probably null
R9611:Colgalt2 UTSW 1 152,484,994 (GRCm38) missense probably damaging 1.00
X0028:Colgalt2 UTSW 1 152,471,720 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGTGACAGCGTGACATGACC -3'
(R):5'- TCACCTTGTAGACGGAGGGAGAAAC -3'

Sequencing Primer
(F):5'- GGATTGAGAAATCTCAACCTGC -3'
(R):5'- GAGGGAGAAACAGCCACC -3'
Posted On 2014-03-14