Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Colgalt2'

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

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

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 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

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

Meta Mutation Damage Score

0.4127

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

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
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