Mutagenetix > Incidental Mutation

Incidental Mutation 'R9186:Colgalt2'

697353

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: 0.075) question?

Stock #

R9186 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152275581-152386446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 152384403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 581 (T581K)

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: T581K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: T581K

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 benign
Transcript: ENSMUST00000127586

SMART Domains

Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,472 (GRCm39)	R634L	probably damaging	Het
Ankhd1	T	C	18: 36,767,383 (GRCm39)	I210T	possibly damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Arid3b	A	T	9: 57,702,217 (GRCm39)		probably null	Het
Arl10	A	G	13: 54,726,620 (GRCm39)	N133D	probably damaging	Het
Bag6	C	T	17: 35,363,667 (GRCm39)	R784W	probably damaging	Het
Ccnl1	T	C	3: 65,865,426 (GRCm39)	T42A	unknown	Het
Cd164	C	A	10: 41,404,695 (GRCm39)	P151Q	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Ceacam2	T	A	7: 25,227,213 (GRCm39)	N218I	probably damaging	Het
Cfap97	C	T	8: 46,644,665 (GRCm39)	R466C	possibly damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dusp13b	A	T	14: 21,798,563 (GRCm39)	S34T	probably damaging	Het
Esf1	T	A	2: 139,990,792 (GRCm39)	K564I	possibly damaging	Het
F5	A	G	1: 164,021,470 (GRCm39)	N1315S	probably benign	Het
Fubp1	A	T	3: 151,926,153 (GRCm39)	M292L	probably damaging	Het
Gabrb2	A	T	11: 42,378,200 (GRCm39)	M139L	possibly damaging	Het
Gk5	T	A	9: 96,015,469 (GRCm39)	V95D	probably benign	Het
Glcci1	C	A	6: 8,537,826 (GRCm39)	P148Q	possibly damaging	Het
Gm19410	A	T	8: 36,282,629 (GRCm39)	S1952C	possibly damaging	Het
Gstm4	T	C	3: 107,952,049 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,436,227 (GRCm39)	L1211Q	probably damaging	Het
Helz2	A	G	2: 180,876,457 (GRCm39)	S1346P	possibly damaging	Het
Hexb	A	C	13: 97,325,836 (GRCm39)	V158G	probably damaging	Het
Hipk3	T	C	2: 104,301,439 (GRCm39)	E251G	probably damaging	Het
Hps5	T	C	7: 46,438,370 (GRCm39)	Y89C	probably damaging	Het
Iqub	A	T	6: 24,450,766 (GRCm39)	V611D	possibly damaging	Het
Itgbl1	G	A	14: 124,094,970 (GRCm39)	D332N	probably benign	Het
Krtap26-1	C	A	16: 88,444,609 (GRCm39)	R4L	unknown	Het
Lgi3	A	G	14: 70,772,193 (GRCm39)	Y246C	probably damaging	Het
Mug2	T	A	6: 122,052,248 (GRCm39)	I1002N	probably damaging	Het
Myo18a	C	T	11: 77,749,847 (GRCm39)	T66M		Het
Naip6	T	C	13: 100,436,390 (GRCm39)	D711G	possibly damaging	Het
Or4f59	C	A	2: 111,873,095 (GRCm39)	C94F	probably damaging	Het
Orc5	T	A	5: 22,752,944 (GRCm39)	Q48L	probably benign	Het
Oxct2a	C	A	4: 123,216,461 (GRCm39)	A307S	probably damaging	Het
Pgls	T	C	8: 72,048,833 (GRCm39)	*258Q	probably null	Het
Plekha6	C	T	1: 133,220,171 (GRCm39)	R955W	probably damaging	Het
Polr1c	G	T	17: 46,556,633 (GRCm39)	N97K	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prtg	T	C	9: 72,764,159 (GRCm39)	V544A	probably benign	Het
Rbl2	G	A	8: 91,828,006 (GRCm39)	G574S	probably damaging	Het
Scamp1	T	A	13: 94,344,682 (GRCm39)	T272S	possibly damaging	Het
Sun2	T	A	15: 79,611,737 (GRCm39)	D562V	probably damaging	Het
Szt2	A	G	4: 118,242,288 (GRCm39)	F1565S	probably damaging	Het
Tatdn2	C	T	6: 113,687,125 (GRCm39)	R779C	probably benign	Het
Tbc1d30	T	C	10: 121,111,639 (GRCm39)	I430V	probably benign	Het
Tmem86b	T	C	7: 4,632,725 (GRCm39)	D43G	probably damaging	Het
Tnrc18	T	C	5: 142,773,488 (GRCm39)	N447S		Het
Trmt2a	T	C	16: 18,069,033 (GRCm39)	S292P	probably benign	Het
Trpc2	T	C	7: 101,737,492 (GRCm39)	V428A	probably damaging	Het
Tsc2	T	C	17: 24,823,862 (GRCm39)	E981G	probably damaging	Het
Ucp1	G	T	8: 84,017,272 (GRCm39)	G21*	probably null	Het
Utrn	T	C	10: 12,490,318 (GRCm39)	T21A	probably benign	Het
Vapa	A	T	17: 65,900,507 (GRCm39)	N88K	probably damaging	Het
Wasl	T	C	6: 24,664,615 (GRCm39)	R10G	probably damaging	Het
Zan	C	A	5: 137,391,810 (GRCm39)	V4662F	unknown	Het
Zap70	G	A	1: 36,818,832 (GRCm39)	M382I	possibly damaging	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	probably benign	Het

Other mutations in Colgalt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ATGACAAGCAGGGCTCTCTG -3'
(R):5'- AGACAGTGATGAACCTTGCAGAC -3'

Sequencing Primer
(F):5'- GCCTTCCCCATTCCCTGAGAC -3'
(R):5'- GTGATGAACCTTGCAGACCACAC -3'

Posted On

2022-02-07