Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Large2'

503822

Institutional Source

Beutler Lab

Gene Symbol

Large2

Ensembl Gene

ENSMUSG00000040434

Gene Name

LARGE xylosyl- and glucuronyltransferase 2

Synonyms

5730485C17Rik, Gyltl1b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92365046-92374869 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92370636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 65 (D65G)

Ref Sequence

ENSEMBL: ENSMUSP00000135619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028650] [ENSMUST00000068586] [ENSMUST00000090582] [ENSMUST00000111284] [ENSMUST00000148352] [ENSMUST00000176289] [ENSMUST00000176339] [ENSMUST00000176774] [ENSMUST00000176810]

AlphaFold

Q5XPT3

Predicted Effect

probably benign
Transcript: ENSMUST00000028650

SMART Domains

Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222

Domain	Start	End	E-Value	Type
Pfam:Pex16	9	329	1.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068586
AA Change: D43G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434
AA Change: D43G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	70	316	4.6e-22	PFAM
low complexity region	392	401	N/A	INTRINSIC
Pfam:Glyco_transf_49	402	469	2.2e-11	PFAM
Pfam:Glyco_transf_49	466	673	1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090582
AA Change: D43G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434
AA Change: D43G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	70	218	7.2e-9	PFAM
Pfam:Glyco_transf_8	188	281	2.3e-8	PFAM
low complexity region	357	366	N/A	INTRINSIC
Pfam:Glyco_transf_49	367	434	2.1e-11	PFAM
Pfam:Glyco_transf_49	431	638	9.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111284
AA Change: D68G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434
AA Change: D68G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	77	88	N/A	INTRINSIC
Pfam:Glyco_transf_8	97	341	8.9e-22	PFAM
low complexity region	417	426	N/A	INTRINSIC
Pfam:Glyco_transf_49	427	494	6.5e-11	PFAM
Pfam:Glyco_transf_49	491	698	3.1e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146311

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148352
AA Change: D43G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434
AA Change: D43G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175740

Predicted Effect

probably benign
Transcript: ENSMUST00000176289
AA Change: D43G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135118
Gene: ENSMUSG00000040434
AA Change: D43G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176339
AA Change: D65G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434
AA Change: D65G

Domain	Start	End	E-Value	Type
transmembrane domain	31	50	N/A	INTRINSIC
low complexity region	74	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176774
AA Change: D43G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434
AA Change: D43G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	71	317	3.9e-22	PFAM
low complexity region	393	402	N/A	INTRINSIC
Pfam:Glyco_transf_49	403	470	1.6e-11	PFAM
Pfam:Glyco_transf_49	467	674	7.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176810
AA Change: D68G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434
AA Change: D68G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	77	88	N/A	INTRINSIC
Pfam:Glyco_transf_8	101	342	4.2e-20	PFAM
low complexity region	417	426	N/A	INTRINSIC
Pfam:Glyco_transf_49	427	493	1.3e-13	PFAM
Pfam:Glyco_transf_49	489	698	2.8e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176820

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Null mutant mice are healthy and are indistinguishable from control littermates with respect to body weight and life span when aged up to one year. No increased spontaneous tumor load was observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	Het

Other mutations in Large2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Large2	APN	2	92366339	missense	probably damaging	1.00
IGL01152:Large2	APN	2	92370639	missense	probably damaging	1.00
IGL01377:Large2	APN	2	92369331	missense	probably damaging	1.00
IGL01764:Large2	APN	2	92367186	splice site	probably benign
IGL02016:Large2	APN	2	92369543	missense	possibly damaging	0.82
IGL02396:Large2	APN	2	92366323	nonsense	probably null
IGL02996:Large2	APN	2	92365928	missense	possibly damaging	0.88
IGL03011:Large2	APN	2	92367582	missense	probably damaging	1.00
egged	UTSW	2	92370508	intron	probably benign
P0041:Large2	UTSW	2	92367254	splice site	probably benign
R1915:Large2	UTSW	2	92365825	splice site	probably benign
R4193:Large2	UTSW	2	92365359	missense	probably damaging	1.00
R4239:Large2	UTSW	2	92366605	splice site	probably benign
R4580:Large2	UTSW	2	92370612	missense	possibly damaging	0.66
R4679:Large2	UTSW	2	92367558	missense	probably benign	0.31
R4857:Large2	UTSW	2	92366634	intron	probably benign
R4918:Large2	UTSW	2	92366107	intron	probably benign
R5050:Large2	UTSW	2	92367779	missense	probably benign	0.05
R5237:Large2	UTSW	2	92367142	missense	probably benign	0.16
R5264:Large2	UTSW	2	92374743	unclassified	probably benign
R5508:Large2	UTSW	2	92369903	missense	possibly damaging	0.80
R5999:Large2	UTSW	2	92366058	missense	probably benign	0.01
R6077:Large2	UTSW	2	92366570	missense	probably benign	0.00
R6167:Large2	UTSW	2	92367088	missense	probably benign	0.44
R6225:Large2	UTSW	2	92366480	missense	probably damaging	1.00
R6301:Large2	UTSW	2	92369516	missense	probably damaging	1.00
R6376:Large2	UTSW	2	92370508	intron	probably benign
R6485:Large2	UTSW	2	92366028	missense	probably benign
R6727:Large2	UTSW	2	92370870	utr 5 prime	probably benign
R6942:Large2	UTSW	2	92370822	missense	probably damaging	0.99
R7051:Large2	UTSW	2	92367022	missense	probably damaging	0.97
R7318:Large2	UTSW	2	92366028	missense	probably benign
R7581:Large2	UTSW	2	92370193	missense	probably damaging	1.00
R7640:Large2	UTSW	2	92374705	start codon destroyed	probably null
R9522:Large2	UTSW	2	92369921	missense	probably damaging	1.00
Z1176:Large2	UTSW	2	92370198	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGGGTAGCTACATGTCAG -3'
(R):5'- AGTGCTCATCTTGCTATGGTCC -3'

Sequencing Primer
(F):5'- AGCTACATGTCAGGTGCTG -3'
(R):5'- CTGAGTCCCACAGTCATGC -3'

Posted On

2018-02-27