Mutagenetix > Incidental Mutation

Incidental Mutation 'R9522:Large2'

718928

Institutional Source

Beutler Lab

Gene Symbol

Large2

Ensembl Gene

ENSMUSG00000040434

Gene Name

LARGE xylosyl- and glucuronyltransferase 2

Synonyms

5730485C17Rik, Gyltl1b

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9522 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92195391-92201437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92200266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 115 (L115P)

Ref Sequence

ENSEMBL: ENSMUSP00000064128 (fasta)

Gene Model

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

AlphaFold

Q5XPT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000068586
AA Change: L115P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434
AA Change: L115P

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 damaging
Transcript: ENSMUST00000090582
AA Change: L115P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434
AA Change: L115P

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 damaging
Transcript: ENSMUST00000111284
AA Change: L140P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434
AA Change: L140P

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

probably benign
Transcript: ENSMUST00000148352

SMART Domains

Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176289

SMART Domains

Protein: ENSMUSP00000135118
Gene: ENSMUSG00000040434

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176339

SMART Domains

Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176774
AA Change: L116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434
AA Change: L116P

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 damaging
Transcript: ENSMUST00000176810
AA Change: L140P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434
AA Change: L140P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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
Abca14	A	T	7: 119,847,368 (GRCm39)	Y744F	probably null	Het
Adam17	C	A	12: 21,395,693 (GRCm39)	V277F	probably damaging	Het
Adcy8	C	T	15: 64,792,560 (GRCm39)	C132Y	probably damaging	Het
Adgrf3	G	A	5: 30,404,482 (GRCm39)	P318L	possibly damaging	Het
Ahcyl1	A	T	3: 107,579,398 (GRCm39)	I212N	probably damaging	Het
Allc	A	T	12: 28,620,653 (GRCm39)	F33I	probably damaging	Het
Arhgap32	A	G	9: 32,027,450 (GRCm39)	T7A	probably benign	Het
Bbs4	A	G	9: 59,260,691 (GRCm39)		probably null	Het
Btbd1	G	T	7: 81,479,081 (GRCm39)	P20H	unknown	Het
Cass4	A	G	2: 172,269,348 (GRCm39)	I477V	possibly damaging	Het
Cep83	A	G	10: 94,586,184 (GRCm39)	E362G	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cimip2c	A	T	5: 30,623,467 (GRCm39)	S5C	probably damaging	Het
Cntnap5b	A	G	1: 100,412,347 (GRCm39)	D896G	probably benign	Het
Crocc2	T	C	1: 93,117,429 (GRCm39)	V305A	probably benign	Het
Cse1l	G	A	2: 166,776,673 (GRCm39)	V495I	probably benign	Het
Ctsj	A	T	13: 61,152,257 (GRCm39)	Y36*	probably null	Het
Ctss	T	G	3: 95,454,109 (GRCm39)	D220E	probably benign	Het
Ctu1	T	C	7: 43,324,900 (GRCm39)	L113P	probably benign	Het
Cyp2d40	G	A	15: 82,648,274 (GRCm39)	A13V	possibly damaging	Het
Dhrs4	A	T	14: 55,716,219 (GRCm39)		probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dpysl5	C	A	5: 30,935,399 (GRCm39)	Y167*	probably null	Het
E4f1	C	T	17: 24,666,096 (GRCm39)	G234D	probably damaging	Het
Eif3g	G	T	9: 20,809,451 (GRCm39)	T27N	probably benign	Het
Eif3g	T	A	9: 20,809,452 (GRCm39)	T27S	probably benign	Het
Fcrl2	A	G	3: 87,164,101 (GRCm39)	F343L	possibly damaging	Het
Fdft1	T	C	14: 63,396,597 (GRCm39)		probably null	Het
Hsd3b9	T	C	3: 98,353,783 (GRCm39)	S239G	probably benign	Het
Igf2r	G	T	17: 12,917,215 (GRCm39)	Q1562K	probably benign	Het
Ilf3	G	A	9: 21,305,533 (GRCm39)	V232I	probably benign	Het
Irx5	C	T	8: 93,087,259 (GRCm39)	T397M	possibly damaging	Het
Kif16b	A	T	2: 142,691,827 (GRCm39)	V219D	probably damaging	Het
Klkb1	T	C	8: 45,730,052 (GRCm39)	I276M	probably benign	Het
Lrrc3b	T	C	14: 15,358,423 (GRCm38)	D61G	probably benign	Het
Map7	A	G	10: 20,105,642 (GRCm39)	Y31C	possibly damaging	Het
Moxd2	T	A	6: 40,857,375 (GRCm39)	I462F	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5b98	T	A	19: 12,931,377 (GRCm39)	C141*	probably null	Het
Or9m2	G	A	2: 87,821,175 (GRCm39)	C240Y	probably damaging	Het
Phf20l1	T	C	15: 66,504,669 (GRCm39)	V770A	possibly damaging	Het
Ppfia4	G	A	1: 134,240,886 (GRCm39)	A819V	probably damaging	Het
Qrfpr	A	G	3: 36,236,676 (GRCm39)	W242R	probably damaging	Het
Rgs3	A	G	4: 62,523,729 (GRCm39)	I53M	probably benign	Het
Rif1	T	C	2: 51,971,311 (GRCm39)	F263S	probably damaging	Het
Rpl22l1	T	C	3: 28,860,743 (GRCm39)		probably null	Het
Ryr3	T	A	2: 112,560,759 (GRCm39)	I3001F	probably benign	Het
Safb2	A	G	17: 56,873,900 (GRCm39)	I675T	probably damaging	Het
Scart2	T	A	7: 139,853,987 (GRCm39)	I330N	possibly damaging	Het
Sec16b	C	T	1: 157,392,335 (GRCm39)	S901L	probably damaging	Het
Setd5	T	G	6: 113,091,995 (GRCm39)	I272S	probably damaging	Het
Slc40a1	A	T	1: 45,948,672 (GRCm39)	M536K	probably damaging	Het
Slfn3	T	C	11: 83,103,825 (GRCm39)	V232A	probably benign	Het
Spata31d1b	T	C	13: 59,864,780 (GRCm39)	S643P	probably benign	Het
Tbc1d23	T	C	16: 57,019,107 (GRCm39)	D251G	probably benign	Het
Tbccd1	T	C	16: 22,641,249 (GRCm39)	E376G	possibly damaging	Het
Tmem184a	G	T	5: 139,791,485 (GRCm39)	P368T	probably benign	Het
Top1mt	T	C	15: 75,539,309 (GRCm39)	D362G	probably damaging	Het
Top6bl	T	C	19: 4,677,274 (GRCm39)	H612R	probably benign	Het
Ugt3a1	C	A	15: 9,370,209 (GRCm39)	P451H	probably damaging	Het
Unc80	G	A	1: 66,677,221 (GRCm39)	C2050Y	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r179	T	C	7: 23,628,202 (GRCm39)	V131A	probably damaging	Het
Wdr89	A	G	12: 75,679,924 (GRCm39)	F110S	probably damaging	Het
Znrf3	T	C	11: 5,232,379 (GRCm39)	Y282C	probably damaging	Het
Zscan18	T	C	7: 12,503,297 (GRCm39)	D754G	possibly damaging	Het

Other mutations in Large2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Large2	APN	2	92,196,684 (GRCm39)	missense	probably damaging	1.00
IGL01152:Large2	APN	2	92,200,984 (GRCm39)	missense	probably damaging	1.00
IGL01377:Large2	APN	2	92,199,676 (GRCm39)	missense	probably damaging	1.00
IGL01764:Large2	APN	2	92,197,531 (GRCm39)	splice site	probably benign
IGL02016:Large2	APN	2	92,199,888 (GRCm39)	missense	possibly damaging	0.82
IGL02396:Large2	APN	2	92,196,668 (GRCm39)	nonsense	probably null
IGL02996:Large2	APN	2	92,196,273 (GRCm39)	missense	possibly damaging	0.88
IGL03011:Large2	APN	2	92,197,927 (GRCm39)	missense	probably damaging	1.00
egged	UTSW	2	92,200,853 (GRCm39)	intron	probably benign
P0041:Large2	UTSW	2	92,197,599 (GRCm39)	splice site	probably benign
R1915:Large2	UTSW	2	92,196,170 (GRCm39)	splice site	probably benign
R4193:Large2	UTSW	2	92,195,704 (GRCm39)	missense	probably damaging	1.00
R4239:Large2	UTSW	2	92,196,950 (GRCm39)	splice site	probably benign
R4580:Large2	UTSW	2	92,200,957 (GRCm39)	missense	possibly damaging	0.66
R4679:Large2	UTSW	2	92,197,903 (GRCm39)	missense	probably benign	0.31
R4857:Large2	UTSW	2	92,196,979 (GRCm39)	intron	probably benign
R4918:Large2	UTSW	2	92,196,452 (GRCm39)	intron	probably benign
R5050:Large2	UTSW	2	92,198,124 (GRCm39)	missense	probably benign	0.05
R5237:Large2	UTSW	2	92,197,487 (GRCm39)	missense	probably benign	0.16
R5264:Large2	UTSW	2	92,205,088 (GRCm39)	unclassified	probably benign
R5508:Large2	UTSW	2	92,200,248 (GRCm39)	missense	possibly damaging	0.80
R5999:Large2	UTSW	2	92,196,403 (GRCm39)	missense	probably benign	0.01
R6077:Large2	UTSW	2	92,196,915 (GRCm39)	missense	probably benign	0.00
R6167:Large2	UTSW	2	92,197,433 (GRCm39)	missense	probably benign	0.44
R6218:Large2	UTSW	2	92,200,981 (GRCm39)	missense	probably damaging	0.99
R6225:Large2	UTSW	2	92,196,825 (GRCm39)	missense	probably damaging	1.00
R6301:Large2	UTSW	2	92,199,861 (GRCm39)	missense	probably damaging	1.00
R6376:Large2	UTSW	2	92,200,853 (GRCm39)	intron	probably benign
R6485:Large2	UTSW	2	92,196,373 (GRCm39)	missense	probably benign
R6727:Large2	UTSW	2	92,201,215 (GRCm39)	utr 5 prime	probably benign
R6942:Large2	UTSW	2	92,201,167 (GRCm39)	missense	probably damaging	0.99
R7051:Large2	UTSW	2	92,197,367 (GRCm39)	missense	probably damaging	0.97
R7318:Large2	UTSW	2	92,196,373 (GRCm39)	missense	probably benign
R7581:Large2	UTSW	2	92,200,538 (GRCm39)	missense	probably damaging	1.00
R7640:Large2	UTSW	2	92,205,050 (GRCm39)	start codon destroyed	probably null
Z1176:Large2	UTSW	2	92,200,543 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATTTCAGCTCCAGGAGGTCTAG -3'
(R):5'- TACAGACAGGCCTGGATGAG -3'

Sequencing Primer
(F):5'- AGTAGGACAGAGTTTTTCCTCTC -3'
(R):5'- CCTTTCTTATGAAGGGGGCCAC -3'

Posted On

2022-07-18