Mutagenetix > Incidental Mutation

Incidental Mutation 'R9393:Colgalt2'

710646

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R9393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152399830-152510695 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 152484847 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 212 (K212*)

Ref Sequence

ENSEMBL: ENSMUSP00000037532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044311] [ENSMUST00000127586]

AlphaFold

Q6NVG7

Predicted Effect

probably null
Transcript: ENSMUST00000044311
AA Change: K212*

SMART Domains

Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: K212*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000127586
AA Change: K212*

SMART Domains

Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: K212*

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190007I07Rik	A	G	10: 82,622,641 (GRCm38)	S59P	unknown	Het
4933406M09Rik	A	G	1: 134,390,858 (GRCm38)	D456G	probably benign	Het
A2m	A	G	6: 121,639,311 (GRCm38)	S133G	possibly damaging	Het
Agps	A	G	2: 75,904,912 (GRCm38)	E567G	possibly damaging	Het
Ak9	T	C	10: 41,409,072 (GRCm38)	I1381T	unknown	Het
Apcdd1	C	T	18: 62,922,660 (GRCm38)		probably benign	Het
Arrb1	T	A	7: 99,589,684 (GRCm38)	C150S	probably damaging	Het
Asz1	T	C	6: 18,051,331 (GRCm38)	I450V	probably benign	Het
Atp10b	A	G	11: 43,172,781 (GRCm38)	N181S	probably damaging	Het
Bptf	A	C	11: 107,074,308 (GRCm38)	D1353E	probably benign	Het
Cacna2d1	T	C	5: 15,935,015 (GRCm38)	M1T	probably null	Het
Ccdc106	T	A	7: 5,056,201 (GRCm38)	I6N	possibly damaging	Het
Celf6	A	T	9: 59,603,242 (GRCm38)	Q252L	probably benign	Het
Cryba4	T	C	5: 112,246,766 (GRCm38)	S166G	probably benign	Het
Cyp2w1	A	G	5: 139,356,280 (GRCm38)	E123G	probably benign	Het
Cyp4a10	G	C	4: 115,525,369 (GRCm38)	K285N	probably damaging	Het
Cyth1	G	T	11: 118,183,884 (GRCm38)	T197K	probably benign	Het
Ddhd1	A	G	14: 45,657,228 (GRCm38)	W262R	probably damaging	Het
Dnah8	T	A	17: 30,653,387 (GRCm38)	V450D	possibly damaging	Het
Eml5	C	T	12: 98,876,174 (GRCm38)	V222I	probably benign	Het
Fam160b2	G	A	14: 70,594,023 (GRCm38)	Q24*	probably null	Het
Fbxw19	A	G	9: 109,495,805 (GRCm38)	S15P	probably damaging	Het
Fignl2	C	A	15: 101,053,585 (GRCm38)	R272L	unknown	Het
Gm10842	A	T	11: 105,147,059 (GRCm38)	D56V	unknown	Het
Gm21818	A	T	13: 120,173,422 (GRCm38)	Y80F	probably benign	Het
Gmps	T	A	3: 63,993,219 (GRCm38)	N305K	probably benign	Het
Gnai1	A	T	5: 18,360,057 (GRCm38)	L38Q		Het
Golim4	A	T	3: 75,878,157 (GRCm38)	D642E	probably benign	Het
Gp1ba	A	T	11: 70,640,467 (GRCm38)	Q353L	unknown	Het
Gpnmb	T	C	6: 49,048,062 (GRCm38)	S343P	possibly damaging	Het
Hexb	G	A	13: 97,176,828 (GRCm38)	R507*	probably null	Het
Ifitm10	A	T	7: 142,370,967 (GRCm38)	V45D	probably damaging	Het
Khsrp	T	C	17: 57,023,350 (GRCm38)	Y585C	probably damaging	Het
Kif21a	A	T	15: 90,969,778 (GRCm38)	D795E	probably benign	Het
Klkb1	A	T	8: 45,276,355 (GRCm38)	V309E	probably benign	Het
Krtap9-1	C	A	11: 99,873,838 (GRCm38)	C133*	probably null	Het
Krtcap2	T	C	3: 89,246,271 (GRCm38)		probably benign	Het
Lilra5	T	C	7: 4,237,759 (GRCm38)	M1T	probably null	Het
Magi1	G	A	6: 93,682,909 (GRCm38)	T1019I	probably benign	Het
Mdn1	T	A	4: 32,713,825 (GRCm38)	H1967Q		Het
Mroh2b	A	T	15: 4,951,184 (GRCm38)	T1412S	probably benign	Het
Myh13	A	T	11: 67,352,068 (GRCm38)	M936L	probably benign	Het
Ncapd3	A	G	9: 27,051,386 (GRCm38)	T373A	possibly damaging	Het
Noc2l	T	C	4: 156,236,327 (GRCm38)		probably null	Het
Nrg4	C	T	9: 55,242,136 (GRCm38)	S59N	probably benign	Het
Nrip1	A	G	16: 76,294,465 (GRCm38)	V68A	probably benign	Het
Olfr739	T	C	14: 50,424,798 (GRCm38)	V93A	probably benign	Het
Olfr825	T	C	10: 130,163,147 (GRCm38)	T60A	probably benign	Het
Pcdhga6	G	T	18: 37,707,159 (GRCm38)		probably benign	Het
Phf20l1	A	G	15: 66,604,106 (GRCm38)	N196S	probably damaging	Het
Ppp4r4	T	A	12: 103,605,037 (GRCm38)	Y787*	probably null	Het
Psma8	G	A	18: 14,706,241 (GRCm38)	R4Q	probably null	Het
Reg4	A	G	3: 98,229,852 (GRCm38)	K46E	probably benign	Het
Rnf14	T	A	18: 38,309,627 (GRCm38)	M327K	possibly damaging	Het
Rtn1	A	T	12: 72,216,812 (GRCm38)	Y753*	probably null	Het
Slc26a11	A	G	11: 119,368,801 (GRCm38)	R275G	probably benign	Het
Stard9	A	G	2: 120,688,175 (GRCm38)	T527A	possibly damaging	Het
Stk26	C	T	X: 50,841,741 (GRCm38)		probably benign	Het
Tas1r1	C	T	4: 152,031,956 (GRCm38)	C407Y	probably damaging	Het
Tenm3	A	G	8: 48,674,524 (GRCm38)	S40P	probably damaging	Het
Tespa1	T	A	10: 130,347,197 (GRCm38)	S4T	probably damaging	Het
Tlr11	A	G	14: 50,362,090 (GRCm38)	N511S	probably benign	Het
Tmem28	C	T	X: 99,845,491 (GRCm38)	R321W	probably damaging	Het
Tmprss15	A	G	16: 78,957,323 (GRCm38)	I1014T	probably benign	Het
Tpte	T	A	8: 22,284,974 (GRCm38)	M20K	probably benign	Het
Ttn	A	G	2: 76,782,046 (GRCm38)	V17199A	possibly damaging	Het
Tubgcp3	A	G	8: 12,653,411 (GRCm38)	Y305H	probably damaging	Het
Ubr4	T	A	4: 139,485,302 (GRCm38)	V5081E	unknown	Het
Unkl	T	C	17: 25,229,418 (GRCm38)	S322P	probably damaging	Het
Vav3	T	A	3: 109,578,366 (GRCm38)		probably null	Het
Vmn1r76	A	G	7: 11,930,838 (GRCm38)	S150P	probably benign	Het
Xpot	A	G	10: 121,609,695 (GRCm38)		probably null	Het
Xylt1	A	G	7: 117,643,679 (GRCm38)	I650V	probably benign	Het
Zan	C	A	5: 137,405,420 (GRCm38)	A3955S	unknown	Het

Other mutations in Colgalt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1452:Colgalt2	UTSW	1	152,504,153 (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
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'- GTTCCCGCTATTAGAACCCC -3'
(R):5'- ATAGACAGTACCTGCTTGCC -3'

Sequencing Primer
(F):5'- GAACCCCTCTATATTTTAAGTGCAAG -3'
(R):5'- CTGCTTGCCTGCTGGAGAAG -3'

Posted On

2022-04-18