Incidental Mutation 'R0972:Colgalt2'
ID 82846
Institutional Source Beutler Lab
Gene Symbol Colgalt2
Ensembl Gene ENSMUSG00000032649
Gene Name collagen beta(1-O)galactosyltransferase 2
Synonyms Glt25d2
MMRRC Submission 039101-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R0972 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 152275581-152386446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152347495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 143 (V143A)
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: V143A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: V143A

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: V143A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: V143A

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 0.2667 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G A 8: 41,208,168 (GRCm39) R478Q probably damaging Het
Adgrf5 A T 17: 43,761,874 (GRCm39) S1190C probably damaging Het
Akr1a1 T C 4: 116,497,204 (GRCm39) probably null Het
Bco2 A T 9: 50,447,615 (GRCm39) D369E probably benign Het
Blm A T 7: 80,163,118 (GRCm39) S78T probably benign Het
Brsk2 C G 7: 141,547,441 (GRCm39) probably benign Het
Cct8 A G 16: 87,283,508 (GRCm39) V269A possibly damaging Het
Cdh12 A T 15: 21,237,850 (GRCm39) Q28H probably benign Het
Cep290 A G 10: 100,354,624 (GRCm39) T896A probably benign Het
Chrm2 T A 6: 36,501,401 (GRCm39) N419K possibly damaging Het
Clasp2 A T 9: 113,676,773 (GRCm39) H168L possibly damaging Het
Cog3 A T 14: 75,954,610 (GRCm39) M643K probably benign Het
Col6a5 A G 9: 105,817,484 (GRCm39) S276P unknown Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Ddx56 A T 11: 6,217,718 (GRCm39) M1K probably null Het
Dnah3 C T 7: 119,634,563 (GRCm39) probably null Het
Dnah6 T C 6: 73,136,176 (GRCm39) T988A possibly damaging Het
Esp15 T A 17: 39,953,557 (GRCm39) F15I possibly damaging Het
Fam237b T A 5: 5,625,512 (GRCm39) D69E probably benign Het
Fbh1 C T 2: 11,768,899 (GRCm39) probably benign Het
Gucy1b2 A T 14: 62,646,127 (GRCm39) I572N possibly damaging Het
Gucy1b2 T C 14: 62,651,818 (GRCm39) I393V possibly damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Herc1 C A 9: 66,279,427 (GRCm39) R112S probably damaging Het
Itga7 G A 10: 128,778,746 (GRCm39) R291H probably damaging Het
Jag1 A G 2: 136,925,371 (GRCm39) L1077S possibly damaging Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Klrc2 T C 6: 129,635,726 (GRCm39) Y134C probably damaging Het
Map2k2 C A 10: 80,955,482 (GRCm39) D67E probably benign Het
Mest G A 6: 30,740,683 (GRCm39) W14* probably null Het
Mier2 A G 10: 79,380,455 (GRCm39) probably benign Het
Mog A G 17: 37,328,424 (GRCm39) V169A probably benign Het
Mov10l1 T C 15: 88,905,482 (GRCm39) V879A probably damaging Het
Mrgpra9 A G 7: 46,885,203 (GRCm39) S155P probably damaging Het
Mtmr10 A G 7: 63,976,457 (GRCm39) D418G probably damaging Het
Mtpn T C 6: 35,498,911 (GRCm39) D58G probably null Het
Myh8 A G 11: 67,188,585 (GRCm39) R1056G probably damaging Het
Nek1 T A 8: 61,542,465 (GRCm39) probably null Het
Or4k38 T C 2: 111,165,763 (GRCm39) Y220C probably benign Het
Or5al7 A C 2: 85,992,648 (GRCm39) L215R possibly damaging Het
Or8b36 T A 9: 37,937,856 (GRCm39) F251L possibly damaging Het
Pcnx1 G A 12: 81,960,186 (GRCm39) D181N probably damaging Het
Pdzrn4 A G 15: 92,655,592 (GRCm39) D495G probably benign Het
Plppr3 A G 10: 79,700,920 (GRCm39) S641P probably damaging Het
Pramel11 T A 4: 143,623,533 (GRCm39) T214S probably benign Het
Prelp A T 1: 133,842,414 (GRCm39) Y244N probably damaging Het
Prg2 C A 2: 84,812,393 (GRCm39) N34K probably benign Het
Ptp4a1 A G 1: 30,984,080 (GRCm39) V46A possibly damaging Het
Rpl6 A G 5: 121,346,565 (GRCm39) D222G possibly damaging Het
Rtp1 A T 16: 23,250,058 (GRCm39) D141V probably damaging Het
Sacs T A 14: 61,449,412 (GRCm39) Y3819* probably null Het
Serinc5 A G 13: 92,825,128 (GRCm39) T186A probably benign Het
Slc15a2 A G 16: 36,577,501 (GRCm39) S422P probably benign Het
Slc2a8 A T 2: 32,865,379 (GRCm39) V366D probably benign Het
Smarca1 T C X: 46,938,864 (GRCm39) R715G possibly damaging Het
Spdef C T 17: 27,933,997 (GRCm39) A275T probably damaging Het
Tcf21 T C 10: 22,695,621 (GRCm39) K61R probably benign Het
Tep1 A G 14: 51,061,753 (GRCm39) probably benign Het
Thada G A 17: 84,736,490 (GRCm39) probably benign Het
Thap11 T A 8: 106,582,810 (GRCm39) I273N probably damaging Het
Tmem129 T A 5: 33,812,112 (GRCm39) E262V possibly damaging Het
Tnxb A G 17: 34,904,117 (GRCm39) Y1086C probably damaging Het
Togaram2 A G 17: 72,014,309 (GRCm39) Y619C probably damaging Het
Top1 C T 2: 160,562,945 (GRCm39) A717V probably damaging Het
Trpm7 G A 2: 126,646,969 (GRCm39) P1507S probably benign Het
Ubr2 A T 17: 47,245,187 (GRCm39) probably null Het
Usp30 T C 5: 114,249,925 (GRCm39) probably benign Het
Vmn1r3 T A 4: 3,185,125 (GRCm39) I61F probably damaging Het
Zbtb22 C T 17: 34,136,326 (GRCm39) T157I possibly damaging Het
Zfp677 A T 17: 21,618,572 (GRCm39) H543L probably damaging Het
Zranb3 G T 1: 127,884,383 (GRCm39) P1001Q 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
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
R4282:Colgalt2 UTSW 1 152,344,282 (GRCm39) missense probably damaging 1.00
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'- CTTGCTGAAGAAAAGCCAGGCAC -3'
(R):5'- TCACTGCAAAGGCATCTGAGATGAAG -3'

Sequencing Primer
(F):5'- agaaggaagaggaggaggac -3'
(R):5'- TAACCCAAGAGTTTTCCCTTGAAC -3'
Posted On 2013-11-08