Mutagenetix > Incidental Mutation

Incidental Mutation 'R7581:Large2'

586724

Institutional Source

Beutler Lab

Gene Symbol

Large2

Ensembl Gene

ENSMUSG00000040434

Gene Name

LARGE xylosyl- and glucuronyltransferase 2

Synonyms

5730485C17Rik, Gyltl1b

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7581 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92365046-92374869 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92370193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 89 (S89P)

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: S89P

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

SMART Domains

Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434
AA Change: S89P

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: S89P

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

SMART Domains

Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434
AA Change: S89P

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: S114P

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

SMART Domains

Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434
AA Change: S114P

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 damaging
Transcript: ENSMUST00000176339
AA Change: S112P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434
AA Change: S112P

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: S90P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434
AA Change: S90P

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: S114P

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

SMART Domains

Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434
AA Change: S114P

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	G	A	5: 109,690,788		probably benign	Het
Adamts9	A	C	6: 92,937,338	D196E	probably benign	Het
Adnp	A	T	2: 168,183,466	D636E	probably damaging	Het
Afdn	T	C	17: 13,849,238	V723A	probably damaging	Het
Arid1a	A	T	4: 133,680,351	F1897I	unknown	Het
Atp6v0b	T	C	4: 117,885,286	M137V	probably benign	Het
Bicd1	T	A	6: 149,519,004	I784N	probably damaging	Het
Cckbr	A	G	7: 105,433,786	T119A	probably benign	Het
Creb5	T	C	6: 53,681,237	L184P	probably damaging	Het
Cyp2a22	T	G	7: 26,938,148	K141Q	possibly damaging	Het
D16Ertd472e	T	C	16: 78,546,557	T219A	possibly damaging	Het
Ep400	A	T	5: 110,756,025	L236Q	unknown	Het
Exph5	A	G	9: 53,372,557	S313G	possibly damaging	Het
Gm10024	T	C	10: 77,711,563	V36A	unknown	Het
Gm5493	A	G	17: 22,747,274	E44G	probably damaging	Het
Gtdc1	A	T	2: 44,790,005		probably null	Het
Invs	T	C	4: 48,421,909	V847A	probably benign	Het
Kif18b	C	A	11: 102,914,722	Q236H	probably damaging	Het
Kntc1	A	G	5: 123,816,755	T2079A	probably benign	Het
Maml3	A	C	3: 51,856,768	D258E	probably benign	Het
Mdga2	A	T	12: 66,506,255	M868K	probably damaging	Het
Mtss1l	A	G	8: 110,726,213	E30G	possibly damaging	Het
Muc16	T	C	9: 18,645,614	I3128V	unknown	Het
Mug2	C	T	6: 122,063,711	T740I	probably damaging	Het
Noc2l	T	C	4: 156,245,449	V612A	probably benign	Het
Olfr420	G	A	1: 174,158,771		probably null	Het
Olfr979	A	T	9: 40,000,422	D268E	probably damaging	Het
Padi6	T	C	4: 140,728,929	T585A	probably benign	Het
Pcdhga1	A	T	18: 37,662,177	N78I	probably damaging	Het
Pdgfd	A	G	9: 6,293,894	Y156C	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452		probably benign	Het
Pi4ka	C	T	16: 17,301,060	V1307I		Het
Pip5k1c	A	G	10: 81,308,960	N212D	probably damaging	Het
Plekha1	A	G	7: 130,910,865	T264A	probably benign	Het
Polr2b	A	G	5: 77,326,704	R463G	probably damaging	Het
Psd2	T	G	18: 35,979,997	D248E	probably benign	Het
Rag1	G	T	2: 101,643,304	Q498K	possibly damaging	Het
Ryr3	A	G	2: 112,753,027	I2853T	probably damaging	Het
Selenow	G	T	7: 15,922,382		probably null	Het
Sned1	C	T	1: 93,256,545	S165F	probably benign	Het
Spata31d1a	A	G	13: 59,704,139		probably null	Het
Taar4	C	A	10: 23,961,154	H221N	probably damaging	Het
Tgm6	A	T	2: 130,141,285	R265W	probably damaging	Het
Trpm1	A	T	7: 64,204,555	Q275L	probably benign	Het
Ulk3	T	C	9: 57,592,042	L173P	probably damaging	Het
Urah	A	T	7: 140,835,627	T3S	probably benign	Het
Vmn1r149	A	T	7: 22,437,904	V109D	probably damaging	Het
Xpc	A	T	6: 91,498,017		probably benign	Het
Zglp1	T	A	9: 21,062,708	K227N	probably 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
R6218:Large2	UTSW	2	92370636	missense	probably damaging	0.99
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
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'- TAACATGGCTGTGCGGGAAC -3'
(R):5'- GAAATTGAGGCGTTGCATCTAGG -3'

Sequencing Primer
(F):5'- TGCGGGAACAATACAGGATTCTCC -3'
(R):5'- CGTTGCATCTAGGCACCC -3'

Posted On

2019-10-24