Mutagenetix > Incidental Mutation

Incidental Mutation 'R0280:Colgalt2'

37434

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

038502-MU

Accession Numbers

Essential gene?

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

Stock #

R0280 (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: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	probably benign	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
R0282: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