Mutagenetix > Incidental Mutation

Incidental Mutation 'R0282:Colgalt2'

37587

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

038504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0282 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152399830-152510695 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 152508561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 551 (A551S)

Ref Sequence

ENSEMBL: ENSMUSP00000037532 (fasta)

Gene Model

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

AlphaFold

Q6NVG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044311
AA Change: A551S

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: A551S

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

Meta Mutation Damage Score

0.2340

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
1700123L14Rik	T	C	6: 96,164,816	T416A	probably benign	Het
Afap1l2	A	G	19: 56,916,221	S549P	possibly damaging	Het
Alcam	A	T	16: 52,295,741	C157S	probably damaging	Het
Aldh1a1	T	C	19: 20,629,049		probably benign	Het
Ano8	G	A	8: 71,480,614		probably benign	Het
Atr	T	C	9: 95,862,798	V56A	probably benign	Het
Aurkc	T	A	7: 7,002,428		probably null	Het
Bnip3	T	C	7: 138,898,030	D76G	probably damaging	Het
Cbr1	A	G	16: 93,610,134	E246G	possibly damaging	Het
Ccdc157	G	T	11: 4,146,708	A449D	probably damaging	Het
Ces3b	T	A	8: 105,083,851	V26D	probably benign	Het
Crk	G	T	11: 75,703,369	G261C	probably damaging	Het
Ctbp1	A	G	5: 33,250,856		probably null	Het
Ctnna1	G	A	18: 35,244,122	V572I	possibly damaging	Het
D430041D05Rik	T	C	2: 104,201,244	Y1669C	probably damaging	Het
Dnah8	T	C	17: 30,736,156	F2053S	probably damaging	Het
Dner	G	A	1: 84,405,965	T566M	probably damaging	Het
Dner	A	G	1: 84,445,380		probably benign	Het
Edrf1	T	C	7: 133,644,022	V223A	probably benign	Het
Fam169a	A	G	13: 97,097,715		probably benign	Het
Fbxl3	G	A	14: 103,095,225	H106Y	probably damaging	Het
Fiz1	A	G	7: 5,009,201	V106A	probably benign	Het
Gapvd1	T	A	2: 34,688,960	R654*	probably null	Het
Gm7589	G	A	9: 59,146,005		noncoding transcript	Het
Ifi202b	A	T	1: 173,977,360	S9T	probably benign	Het
Ipmk	G	C	10: 71,372,831	S149T	probably benign	Het
Irgm2	A	G	11: 58,219,519	E24G	probably benign	Het
Itga2b	A	C	11: 102,460,846	V551G	probably damaging	Het
Itgad	C	T	7: 128,189,978		probably benign	Het
Kcnh8	T	A	17: 52,725,851	F55L	probably damaging	Het
Kdr	G	A	5: 75,950,100		probably benign	Het
Krt35	T	C	11: 100,095,747	Y147C	probably damaging	Het
Lamc1	A	G	1: 153,255,312	F298L	probably benign	Het
Lrrk2	T	C	15: 91,778,414		probably benign	Het
Matn1	T	C	4: 130,945,927	S69P	probably damaging	Het
Micall1	G	T	15: 79,131,901		probably benign	Het
Msto1	A	G	3: 88,911,577	V257A	possibly damaging	Het
Mybpc3	G	C	2: 91,124,024		probably benign	Het
Mycn	A	G	12: 12,937,313	V361A	probably benign	Het
Myo10	A	G	15: 25,793,167	T1277A	probably damaging	Het
Myo3a	T	C	2: 22,245,598	I92T	probably benign	Het
Olfr1199	G	A	2: 88,756,456	T73I	probably damaging	Het
Olfr1510	A	G	14: 52,410,263	V203A	possibly damaging	Het
Olfr267	A	G	4: 58,785,344	I126T	probably damaging	Het
Olfr504	T	A	7: 108,565,477	Q106L	probably damaging	Het
Otog	C	T	7: 46,277,493	T1222I	possibly damaging	Het
P4ha1	C	T	10: 59,337,148	T23M	probably damaging	Het
Pld1	A	T	3: 28,078,273	I537F	probably benign	Het
Plekhn1	A	G	4: 156,228,323		probably benign	Het
Pxdn	C	A	12: 29,984,440	S8*	probably null	Het
Rnf135	A	T	11: 80,193,958	I186F	probably damaging	Het
Rock2	T	C	12: 16,977,886		probably benign	Het
Rph3a	C	A	5: 120,963,910	G88*	probably null	Het
Sarm1	G	A	11: 78,474,980	Q740*	probably null	Het
Setd1b	C	A	5: 123,161,017		probably benign	Het
Sidt1	A	G	16: 44,281,886	S304P	possibly damaging	Het
Slc2a4	A	T	11: 69,946,355	V85E	probably damaging	Het
Swi5	A	G	2: 32,280,754	Y54H	probably damaging	Het
Sycp1	A	G	3: 102,915,795		probably benign	Het
Tarm1	T	C	7: 3,497,490	Y87C	probably damaging	Het
Tmem67	G	A	4: 12,087,930	T72M	probably damaging	Het
Tor1a	A	G	2: 30,967,725	Y44H	possibly damaging	Het
Ttll5	T	C	12: 85,996,053	Y1128H	probably benign	Het
Usp40	G	A	1: 87,980,958		probably benign	Het
Vmn2r18	A	T	5: 151,585,203	M152K	probably benign	Het
Xirp2	T	A	2: 67,513,380	D1988E	probably damaging	Het
Zfp420	A	G	7: 29,875,680	I442V	probably benign	Het
Zyx	A	G	6: 42,356,005	E363G	probably damaging	Het

Other mutations in Colgalt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Colgalt2	APN	1	152506878	missense	probably damaging	0.98
IGL02900:Colgalt2	APN	1	152508730	missense	probably damaging	0.99
R0280:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0328:Colgalt2	UTSW	1	152473108	missense	probably damaging	1.00
R0409:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0412:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0485:Colgalt2	UTSW	1	152484871	missense	probably damaging	1.00
R0518:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0519:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0556:Colgalt2	UTSW	1	152471813	splice site	probably benign
R0605:Colgalt2	UTSW	1	152495792	splice site	probably benign
R0628:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0972:Colgalt2	UTSW	1	152471744	missense	probably damaging	1.00
R1170:Colgalt2	UTSW	1	152503017	missense	probably damaging	1.00
R1373:Colgalt2	UTSW	1	152473161	missense	probably damaging	1.00
R1452:Colgalt2	UTSW	1	152504153	missense	probably damaging	1.00
R1456:Colgalt2	UTSW	1	152484904	missense	probably damaging	1.00
R1544:Colgalt2	UTSW	1	152484952	missense	probably damaging	1.00
R1707:Colgalt2	UTSW	1	152400363	missense	probably damaging	1.00
R2285:Colgalt2	UTSW	1	152468550	missense	probably benign	0.00
R2917:Colgalt2	UTSW	1	152471744	missense	probably damaging	1.00
R3916:Colgalt2	UTSW	1	152508611	nonsense	probably null
R3917:Colgalt2	UTSW	1	152508611	nonsense	probably null
R4250:Colgalt2	UTSW	1	152489887	missense	probably benign	0.00
R4282:Colgalt2	UTSW	1	152468531	missense	probably damaging	1.00
R4421:Colgalt2	UTSW	1	152485012	missense	probably damaging	0.99
R4583:Colgalt2	UTSW	1	152506876	missense	probably damaging	1.00
R4743:Colgalt2	UTSW	1	152400343	missense	probably damaging	0.97
R4751:Colgalt2	UTSW	1	152489876	missense	probably benign	0.34
R4832:Colgalt2	UTSW	1	152484998	missense	possibly damaging	0.87
R4930:Colgalt2	UTSW	1	152499959	missense	possibly damaging	0.92
R5319:Colgalt2	UTSW	1	152484869	missense	possibly damaging	0.78
R5504:Colgalt2	UTSW	1	152400303	missense	possibly damaging	0.88
R5916:Colgalt2	UTSW	1	152504122	missense	probably damaging	1.00
R6006:Colgalt2	UTSW	1	152473161	missense	probably damaging	1.00
R6362:Colgalt2	UTSW	1	152471798	missense	probably damaging	1.00
R6837:Colgalt2	UTSW	1	152506828	missense	probably damaging	1.00
R7464:Colgalt2	UTSW	1	152504144	missense	probably damaging	0.97
R8462:Colgalt2	UTSW	1	152503072	missense	probably damaging	1.00
R8725:Colgalt2	UTSW	1	152484911	missense	probably damaging	0.99
R8727:Colgalt2	UTSW	1	152484911	missense	probably damaging	0.99
R9118:Colgalt2	UTSW	1	152503155	intron	probably benign
R9186:Colgalt2	UTSW	1	152508652	missense	probably damaging	0.98
R9393:Colgalt2	UTSW	1	152484847	nonsense	probably null
R9611:Colgalt2	UTSW	1	152484994	missense	probably damaging	1.00
X0028:Colgalt2	UTSW	1	152471720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACCCAGGCAGTTTCAGAGATGAC -3'
(R):5'- CAGACAGTGATGAACCTTGCAGACC -3'

Sequencing Primer
(F):5'- CAGTTTCAGAGATGACAAGCAG -3'
(R):5'- TCTTGAAGGCACAGTGTCCAG -3'

Posted On

2013-05-23