Incidental Mutation 'R4282:Colgalt2'
ID 322923
Institutional Source Beutler Lab
Gene Symbol Colgalt2
Ensembl Gene ENSMUSG00000032649
Gene Name collagen beta(1-O)galactosyltransferase 2
Synonyms Glt25d2
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 152275581-152386446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 152344282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 115 (V115M)
Ref Sequence ENSEMBL: ENSMUSP00000119210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044311] [ENSMUST00000127586]
AlphaFold Q6NVG7
Predicted Effect probably damaging
Transcript: ENSMUST00000044311
AA Change: V115M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: V115M

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: V115M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: V115M

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 0.2172 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G probably damaging Het
Other mutations in Colgalt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Colgalt2 APN 1 152,382,629 (GRCm39) missense probably damaging 0.98
IGL02900:Colgalt2 APN 1 152,384,481 (GRCm39) missense probably damaging 0.99
R0280:Colgalt2 UTSW 1 152,384,312 (GRCm39) missense possibly damaging 0.68
R0282:Colgalt2 UTSW 1 152,384,312 (GRCm39) missense possibly damaging 0.68
R0328:Colgalt2 UTSW 1 152,348,859 (GRCm39) missense probably damaging 1.00
R0409:Colgalt2 UTSW 1 152,384,312 (GRCm39) missense possibly damaging 0.68
R0412:Colgalt2 UTSW 1 152,384,312 (GRCm39) missense possibly damaging 0.68
R0485:Colgalt2 UTSW 1 152,360,622 (GRCm39) missense probably damaging 1.00
R0518:Colgalt2 UTSW 1 152,384,312 (GRCm39) missense possibly damaging 0.68
R0519:Colgalt2 UTSW 1 152,384,312 (GRCm39) missense possibly damaging 0.68
R0556:Colgalt2 UTSW 1 152,347,564 (GRCm39) splice site probably benign
R0605:Colgalt2 UTSW 1 152,371,543 (GRCm39) splice site probably benign
R0628:Colgalt2 UTSW 1 152,384,312 (GRCm39) missense possibly damaging 0.68
R0972:Colgalt2 UTSW 1 152,347,495 (GRCm39) missense probably damaging 1.00
R1170:Colgalt2 UTSW 1 152,378,768 (GRCm39) missense probably damaging 1.00
R1373:Colgalt2 UTSW 1 152,348,912 (GRCm39) missense probably damaging 1.00
R1452:Colgalt2 UTSW 1 152,379,904 (GRCm39) missense probably damaging 1.00
R1456:Colgalt2 UTSW 1 152,360,655 (GRCm39) missense probably damaging 1.00
R1544:Colgalt2 UTSW 1 152,360,703 (GRCm39) missense probably damaging 1.00
R1707:Colgalt2 UTSW 1 152,276,114 (GRCm39) missense probably damaging 1.00
R2285:Colgalt2 UTSW 1 152,344,301 (GRCm39) missense probably benign 0.00
R2917:Colgalt2 UTSW 1 152,347,495 (GRCm39) missense probably damaging 1.00
R3916:Colgalt2 UTSW 1 152,384,362 (GRCm39) nonsense probably null
R3917:Colgalt2 UTSW 1 152,384,362 (GRCm39) nonsense probably null
R4250:Colgalt2 UTSW 1 152,365,638 (GRCm39) missense probably benign 0.00
R4421:Colgalt2 UTSW 1 152,360,763 (GRCm39) missense probably damaging 0.99
R4583:Colgalt2 UTSW 1 152,382,627 (GRCm39) missense probably damaging 1.00
R4743:Colgalt2 UTSW 1 152,276,094 (GRCm39) missense probably damaging 0.97
R4751:Colgalt2 UTSW 1 152,365,627 (GRCm39) missense probably benign 0.34
R4832:Colgalt2 UTSW 1 152,360,749 (GRCm39) missense possibly damaging 0.87
R4930:Colgalt2 UTSW 1 152,375,710 (GRCm39) missense possibly damaging 0.92
R5319:Colgalt2 UTSW 1 152,360,620 (GRCm39) missense possibly damaging 0.78
R5504:Colgalt2 UTSW 1 152,276,054 (GRCm39) missense possibly damaging 0.88
R5916:Colgalt2 UTSW 1 152,379,873 (GRCm39) missense probably damaging 1.00
R6006:Colgalt2 UTSW 1 152,348,912 (GRCm39) missense probably damaging 1.00
R6362:Colgalt2 UTSW 1 152,347,549 (GRCm39) missense probably damaging 1.00
R6837:Colgalt2 UTSW 1 152,382,579 (GRCm39) missense probably damaging 1.00
R7464:Colgalt2 UTSW 1 152,379,895 (GRCm39) missense probably damaging 0.97
R8462:Colgalt2 UTSW 1 152,378,823 (GRCm39) missense probably damaging 1.00
R8725:Colgalt2 UTSW 1 152,360,662 (GRCm39) missense probably damaging 0.99
R8727:Colgalt2 UTSW 1 152,360,662 (GRCm39) missense probably damaging 0.99
R9118:Colgalt2 UTSW 1 152,378,906 (GRCm39) intron probably benign
R9186:Colgalt2 UTSW 1 152,384,403 (GRCm39) missense probably damaging 0.98
R9393:Colgalt2 UTSW 1 152,360,598 (GRCm39) nonsense probably null
R9611:Colgalt2 UTSW 1 152,360,745 (GRCm39) missense probably damaging 1.00
X0028:Colgalt2 UTSW 1 152,347,471 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTCTCACTTCAGATGTCCTG -3'
(R):5'- TAGAAGAAAAGGCCACATTTGC -3'

Sequencing Primer
(F):5'- TCTAGTGTGGTCCATGAGAGAAGTAC -3'
(R):5'- GCCACATTTGCAAGTCAGATG -3'
Posted On 2015-06-20