Mutagenetix > Incidental Mutation

Incidental Mutation 'R0519:Colgalt2'

48362

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

038712-MU

Accession Numbers

Essential gene?

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

Stock #

R0519 (G1)

Quality Score

217

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: 99.6%
3x: 98.8%
10x: 96.6%
20x: 93.2%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,548,201	R168G	probably benign	Het
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2810004N23Rik	C	T	8: 124,839,929	G251R	possibly damaging	Het
3425401B19Rik	A	G	14: 32,662,962	S349P	possibly damaging	Het
Ackr4	A	G	9: 104,099,451	V99A	probably benign	Het
Asxl3	A	G	18: 22,523,520	Q1529R	possibly damaging	Het
Atg12	T	C	18: 46,741,410	E46G	probably benign	Het
Cdcp2	A	G	4: 107,107,192		probably benign	Het
Clasrp	A	G	7: 19,584,164		probably benign	Het
Clip2	A	G	5: 134,516,151	V383A	probably benign	Het
Cntln	C	T	4: 85,005,053		probably benign	Het
Csmd2	A	C	4: 128,487,005	Y2118S	possibly damaging	Het
Dip2c	T	A	13: 9,563,208	V415E	probably damaging	Het
Dpy19l2	C	T	9: 24,558,095	R755Q	probably benign	Het
Dsn1	A	T	2: 156,998,713		probably benign	Het
Dtd2	T	C	12: 52,004,959		probably benign	Het
Dync1i1	A	G	6: 6,027,399	T602A	probably benign	Het
Ercc6	A	C	14: 32,526,842	D450A	probably damaging	Het
Fgf12	A	T	16: 28,189,628	V104D	probably benign	Het
Frem1	A	T	4: 82,970,633		probably null	Het
Gcgr	G	T	11: 120,536,156	W88L	probably damaging	Het
Glb1	ACCC	ACC	9: 114,421,744		probably null	Het
Hapln1	A	G	13: 89,584,716		probably benign	Het
Hmgn3	T	C	9: 83,112,248	E40G	probably damaging	Het
Hsdl1	G	A	8: 119,565,711	A255V	probably damaging	Het
Hyls1	T	C	9: 35,561,203	K306E	probably damaging	Het
Jcad	C	T	18: 4,649,122		probably benign	Het
Kif14	C	A	1: 136,469,147	A397E	probably damaging	Het
Lcmt2	A	T	2: 121,139,344		probably null	Het
Lifr	T	C	15: 7,177,580	L524P	probably damaging	Het
Ly6g6f	T	C	17: 35,082,852	K209E	possibly damaging	Het
Macf1	G	A	4: 123,471,320	T1651I	probably benign	Het
Mapk4	T	C	18: 73,970,321	D39G	probably damaging	Het
Mbl1	A	G	14: 41,158,565	M137V	probably damaging	Het
Mcm10	G	A	2: 5,008,545	S92L	probably benign	Het
Mug1	A	G	6: 121,851,424	K265R	possibly damaging	Het
Mxra7	A	G	11: 116,810,786		probably null	Het
Neu3	G	A	7: 99,823,317		probably benign	Het
Nsd1	A	G	13: 55,312,835	T2395A	probably benign	Het
Olfr1034	A	T	2: 86,047,067	Y195F	probably benign	Het
Olfr3	T	A	2: 36,812,615	H159L	probably damaging	Het
Olfr750	T	A	14: 51,071,157	I79F	probably damaging	Het
Olfr854	A	T	9: 19,566,949	I145N	probably benign	Het
Osgepl1	T	C	1: 53,321,096	V327A	probably damaging	Het
Pcdhb21	T	C	18: 37,516,032	V738A	possibly damaging	Het
Plekha8	A	T	6: 54,622,107		probably benign	Het
Ptprq	A	C	10: 107,538,920		probably benign	Het
Pus10	T	A	11: 23,711,201	F263Y	probably benign	Het
Rad54b	A	T	4: 11,599,809	I338F	probably damaging	Het
Rad54l2	A	G	9: 106,708,299	F756L	probably damaging	Het
Scn11a	A	G	9: 119,790,119	L719P	probably damaging	Het
Slc2a2	G	A	3: 28,718,816	V253I	possibly damaging	Het
Slc39a4	A	T	15: 76,615,138	N192K	probably benign	Het
Soat1	T	A	1: 156,441,246	I245F	probably damaging	Het
Sorcs2	G	A	5: 36,031,190	A858V	probably benign	Het
Tcim	T	C	8: 24,438,635	T88A	possibly damaging	Het
Tecta	G	A	9: 42,347,892		probably benign	Het
Tgm5	C	A	2: 121,048,895	L553F	probably damaging	Het
Tjp1	A	G	7: 65,302,921	V1555A	probably benign	Het
Tmem214	A	C	5: 30,869,668	M1L	probably null	Het
Togaram1	T	C	12: 64,966,002		probably benign	Het
Topaz1	C	A	9: 122,749,479	L485I	possibly damaging	Het
Ttn	T	C	2: 76,718,282		probably benign	Het
Ube2o	A	G	11: 116,546,459		probably null	Het
Ubr7	T	A	12: 102,768,206	D246E	probably benign	Het
Vcpkmt	T	C	12: 69,582,328	D132G	probably benign	Het
Vmn2r111	T	A	17: 22,573,121	Q51H	probably benign	Het
Vmn2r95	C	T	17: 18,439,503	P170S	probably damaging	Het
Zbtb38	A	G	9: 96,685,773	I1086T	probably damaging	Het
Zfp444	G	A	7: 6,188,173	A118T	probably benign	Het
Zp2	A	G	7: 120,138,149	I272T	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
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
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'- GTACCCAGGCAGTTTCAGAGATGAC -3'
(R):5'- CAGACAGTGATGAACCTTGCAGACC -3'

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

Posted On

2013-06-12