Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Colgalt2'

190108

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

039740-MU

Accession Numbers

Essential gene?

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

Stock #

R1707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152399830-152510695 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 152400363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 76 (R76W)

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: R76W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: R76W

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: R76W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: R76W

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

0.1820

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 160,070,802 (GRCm38)		probably benign	Het
4931429P17Rik	A	G	13: 47,961,005 (GRCm38)		noncoding transcript	Het
Acox3	T	A	5: 35,601,564 (GRCm38)	I373N	possibly damaging	Het
Adgrb1	G	T	15: 74,529,343 (GRCm38)	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Aplp2	A	T	9: 31,150,919 (GRCm38)	H692Q	probably damaging	Het
Arhgap24	T	C	5: 102,892,087 (GRCm38)	S297P	probably benign	Het
Arhgap9	C	T	10: 127,328,889 (GRCm38)	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,564,289 (GRCm38)	D62A	probably damaging	Het
Asb14	T	G	14: 26,901,122 (GRCm38)	F150L	probably benign	Het
Atp8b3	A	T	10: 80,521,801 (GRCm38)		probably null	Het
Atrnl1	A	G	19: 57,686,737 (GRCm38)	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,425,141 (GRCm38)		probably benign	Het
C330027C09Rik	A	C	16: 49,018,404 (GRCm38)	Q861H	probably damaging	Het
Cc2d2a	T	A	5: 43,723,688 (GRCm38)		probably null	Het
Ccin	T	A	4: 43,983,947 (GRCm38)	I118N	probably benign	Het
Cd8b1	G	A	6: 71,326,184 (GRCm38)	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,382 (GRCm38)	S717L	probably benign	Het
Copg1	A	T	6: 87,905,210 (GRCm38)	T596S	probably benign	Het
Cpb1	G	A	3: 20,275,491 (GRCm38)	R24W	probably damaging	Het
Csad	T	A	15: 102,179,972 (GRCm38)	D134V	probably damaging	Het
Dchs2	A	G	3: 83,127,605 (GRCm38)		probably benign	Het
Ddb2	A	G	2: 91,234,209 (GRCm38)	W119R	probably damaging	Het
Dhx57	A	T	17: 80,275,226 (GRCm38)	S317T	probably damaging	Het
Dlc1	A	G	8: 36,937,609 (GRCm38)	V342A	probably benign	Het
Dpp4	G	A	2: 62,359,335 (GRCm38)		probably benign	Het
Dst	G	T	1: 34,167,646 (GRCm38)	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,805,138 (GRCm38)	M989V	probably benign	Het
Gm17660	T	A	5: 104,074,233 (GRCm38)		probably benign	Het
Gm5422	G	A	10: 31,248,462 (GRCm38)		noncoding transcript	Het
Gm9944	A	G	4: 144,453,263 (GRCm38)		probably benign	Het
Gtf2ird2	T	C	5: 134,216,987 (GRCm38)	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,548,766 (GRCm38)	V217G	probably damaging	Het
Hrasls	A	G	16: 29,228,226 (GRCm38)	K166E	probably damaging	Het
Hunk	C	T	16: 90,386,407 (GRCm38)		probably benign	Het
Impg1	T	C	9: 80,378,517 (GRCm38)		probably null	Het
Ints11	T	G	4: 155,875,198 (GRCm38)	D87E	probably benign	Het
Intu	T	A	3: 40,540,924 (GRCm38)	S21T	probably benign	Het
Intu	C	A	3: 40,683,501 (GRCm38)	D472E	possibly damaging	Het
Kbtbd3	T	A	9: 4,316,985 (GRCm38)	N45K	probably benign	Het
Kif1c	C	T	11: 70,728,397 (GRCm38)	L953F	probably damaging	Het
Klrg2	C	G	6: 38,636,794 (GRCm38)	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,912,129 (GRCm38)		probably null	Het
Magi2	T	G	5: 20,215,493 (GRCm38)	M309R	probably damaging	Het
Magohb	G	A	6: 131,284,637 (GRCm38)	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm38)	D1043G	probably damaging	Het
Mtmr3	T	C	11: 4,504,095 (GRCm38)	D203G	probably damaging	Het
Mvp	C	T	7: 127,001,572 (GRCm38)	V86I	probably benign	Het
Naip5	A	T	13: 100,242,855 (GRCm38)	F226I	probably damaging	Het
Nasp	T	A	4: 116,618,936 (GRCm38)	Q51L	probably damaging	Het
Nf1	T	A	11: 79,535,604 (GRCm38)	F1594I	probably damaging	Het
Nod2	A	C	8: 88,670,476 (GRCm38)	E816A	possibly damaging	Het
Nom1	G	A	5: 29,435,318 (GRCm38)	S214N	probably damaging	Het
Olfr168	T	C	16: 19,530,177 (GRCm38)	T248A	probably benign	Het
Olfr25	T	A	9: 38,329,901 (GRCm38)	F105I	probably damaging	Het
Parp14	A	C	16: 35,857,849 (GRCm38)	L583R	probably damaging	Het
Pclo	T	C	5: 14,713,224 (GRCm38)	S3904P	unknown	Het
Pkhd1	T	A	1: 20,550,840 (GRCm38)		probably benign	Het
Polr1e	A	C	4: 45,027,469 (GRCm38)	D233A	probably damaging	Het
Prr29	T	C	11: 106,376,683 (GRCm38)	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,298,547 (GRCm38)	V197E	probably damaging	Het
Rgma	A	T	7: 73,417,959 (GRCm38)	T415S	unknown	Het
Sacs	G	T	14: 61,209,762 (GRCm38)	V3086L	probably benign	Het
Sash1	A	G	10: 8,730,377 (GRCm38)	S750P	probably benign	Het
Sdccag3	T	A	2: 26,387,606 (GRCm38)	N69Y	probably damaging	Het
Sema6a	A	T	18: 47,283,445 (GRCm38)	S372T	probably benign	Het
Sis	A	G	3: 72,909,087 (GRCm38)		probably benign	Het
Skint8	T	A	4: 111,939,572 (GRCm38)	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,551,007 (GRCm38)	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,440,793 (GRCm38)		probably null	Het
Spag6l	A	T	16: 16,780,628 (GRCm38)	I333N	probably benign	Het
Sspo	T	A	6: 48,477,877 (GRCm38)	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,238,821 (GRCm38)	T363P	probably damaging	Het
Tenm4	A	T	7: 96,888,685 (GRCm38)	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,375,807 (GRCm38)	S293N	probably benign	Het
Tmed3	G	A	9: 89,702,780 (GRCm38)	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,266,480 (GRCm38)	T320K	possibly damaging	Het
Tnn	T	C	1: 160,145,144 (GRCm38)	Y296C	probably damaging	Het
Ttn	C	T	2: 76,790,086 (GRCm38)	A15802T	probably damaging	Het
Usp53	T	C	3: 122,947,400 (GRCm38)	M734V	probably benign	Het
Vmn1r24	A	G	6: 57,956,512 (GRCm38)	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,847,577 (GRCm38)	V268E	probably damaging	Het
Xirp1	A	T	9: 120,018,775 (GRCm38)	H347Q	possibly damaging	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
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'- TCCTGCGAGCCTCAGAAATCAGTG -3'
(R):5'- AGTCAAGGTCTCCAGATTCTCGTCC -3'

Sequencing Primer
(F):5'- TACGGAACATGGCTGCG -3'
(R):5'- GTCTCCAGATTCTCGTCCATAGG -3'

Posted On

2014-05-14