Mutagenetix > Incidental Mutation

Incidental Mutation 'R2285:Colgalt2'

243268

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

040284-MU

Accession Numbers

Essential gene?

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

Stock #

R2285 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152399830-152510695 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152468550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 121 (N121S)

Ref Sequence

ENSEMBL: ENSMUSP00000119210 (fasta)

Gene Model

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

AlphaFold

Q6NVG7

Predicted Effect

probably benign
Transcript: ENSMUST00000044311
AA Change: N121S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: N121S

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
AA Change: N121S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: N121S

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: 99.1%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,939,171 (GRCm38)	Y532H	probably damaging	Het
Bbs9	T	G	9: 22,678,934 (GRCm38)	L656W	probably damaging	Het
Clu	T	C	14: 65,980,959 (GRCm38)	S423P	probably benign	Het
Cnpy4	A	G	5: 138,192,825 (GRCm38)		probably null	Het
Col28a1	A	T	6: 8,097,078 (GRCm38)	V440E	probably damaging	Het
Cpa5	G	T	6: 30,615,064 (GRCm38)	V67L	probably benign	Het
Emilin1	G	A	5: 30,918,200 (GRCm38)	R595H	probably damaging	Het
Fam92b	T	C	8: 120,168,537 (GRCm38)	N209D	probably benign	Het
Fat3	G	T	9: 16,376,173 (GRCm38)	Q685K	probably damaging	Het
Gfra4	C	T	2: 131,041,731 (GRCm38)	R34H	probably damaging	Het
Gp2	C	T	7: 119,450,085 (GRCm38)	V410M	possibly damaging	Het
Ints9	T	C	14: 65,007,997 (GRCm38)	F235L	possibly damaging	Het
Kcnh3	A	T	15: 99,241,992 (GRCm38)	I920F	probably benign	Het
Mipep	T	C	14: 60,787,394 (GRCm38)	S95P	possibly damaging	Het
Naip6	C	T	13: 100,300,600 (GRCm38)	A472T	probably benign	Het
Nxpe3	C	T	16: 55,866,225 (GRCm38)	G140D	probably damaging	Het
Olfr792	A	G	10: 129,540,668 (GRCm38)	I44V	probably benign	Het
Ppcs	T	A	4: 119,418,977 (GRCm38)	K137I	possibly damaging	Het
Tmc1	A	G	19: 20,789,799 (GRCm38)	M731T	probably damaging	Het
Tubgcp6	A	T	15: 89,122,474 (GRCm38)	V115D	probably damaging	Het
Usp54	G	A	14: 20,561,178 (GRCm38)	T1190I	possibly damaging	Het
Zfp51	T	A	17: 21,463,875 (GRCm38)	F251I	probably 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
R1707:Colgalt2	UTSW	1	152,400,363 (GRCm38)	missense	probably damaging	1.00
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'- GTCTAGTGTGGTCCATGAGAGAAG -3'
(R):5'- CAGGGAGTTGTGCGAATCTATTAATAG -3'

Sequencing Primer
(F):5'- TGACTCCACCCATTCAGAACTG -3'
(R):5'- TAGAAGAAAAGGCCACATTTGC -3'

Posted On

2014-10-16