Mutagenetix > Incidental Mutation

Incidental Mutation 'R6362:Jag2'

512539

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6362 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112920122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 246 (K246N)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075827]

AlphaFold

Q9QYE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000075827
AA Change: K246N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: K246N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MNNL	26	105	4.2e-31	PFAM
low complexity region	108	123	N/A	INTRINSIC
DSL	178	240	1.48e-36	SMART
EGF_like	244	274	7.23e1	SMART
EGF	275	305	4.56e0	SMART
EGF_CA	307	345	8.5e-9	SMART
EGF	350	383	4e-5	SMART
EGF_CA	385	421	5.39e-11	SMART
EGF_CA	423	459	3.51e-10	SMART
EGF_CA	461	496	1.01e-10	SMART
EGF_CA	498	534	1.17e-6	SMART
EGF_CA	536	572	6.35e-8	SMART
EGF	588	634	7.53e-1	SMART
EGF_CA	636	672	2.89e-11	SMART
EGF	677	710	3.68e-4	SMART
EGF	715	748	1.32e-5	SMART
EGF	754	787	1.34e-6	SMART
EGF_CA	789	825	2.58e-8	SMART
EGF_CA	827	863	7.23e-12	SMART
VWC	872	949	1.3e-1	SMART
low complexity region	1002	1035	N/A	INTRINSIC
transmembrane domain	1085	1107	N/A	INTRINSIC
low complexity region	1109	1119	N/A	INTRINSIC
low complexity region	1170	1199	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222402

Predicted Effect

probably benign
Transcript: ENSMUST00000223140

Meta Mutation Damage Score

0.3281

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	T	G	2: 173,528,174		probably null	Het
Aldh5a1	T	G	13: 24,918,550	D310A	probably benign	Het
Als2cl	T	A	9: 110,895,446		probably null	Het
Amacr	C	A	15: 10,984,805	R170S	probably damaging	Het
Brwd1	C	T	16: 96,002,307	R2221Q	probably damaging	Het
Cacna1g	A	T	11: 94,439,707		probably null	Het
Cd3d	G	A	9: 44,986,291	D157N	probably damaging	Het
Cep131	T	C	11: 120,064,690	D1043G	probably damaging	Het
Cit	A	G	5: 115,886,676	D326G	probably benign	Het
Col16a1	G	C	4: 130,066,190	G370R	unknown	Het
Col6a3	T	A	1: 90,810,563	Y1078F	probably damaging	Het
Colgalt2	A	C	1: 152,471,798	Y161S	probably damaging	Het
Cyp2j13	A	G	4: 96,071,695	Y75H	probably damaging	Het
Daxx	G	A	17: 33,911,364	V118I	probably damaging	Het
Dennd5a	G	T	7: 109,934,265	C75*	probably null	Het
Diaph3	A	G	14: 86,772,130	L1071P	probably damaging	Het
Disp3	A	G	4: 148,254,308	L802P	possibly damaging	Het
Dmc1	A	G	15: 79,588,823	V141A	probably benign	Het
Dsc2	A	T	18: 20,035,463	Y45*	probably null	Het
Dspp	A	G	5: 104,176,034	I348V	probably benign	Het
Epb42	C	A	2: 121,025,779	C428F	possibly damaging	Het
Fam227a	G	T	15: 79,643,350	P100Q	possibly damaging	Het
Fer1l4	C	T	2: 156,048,250	V252I	probably benign	Het
Fhod1	C	A	8: 105,331,641		probably null	Het
Fhod3	G	T	18: 24,754,255	A68S	probably benign	Het
Gatm	T	C	2: 122,598,196	D328G	probably benign	Het
Gm13103	A	G	4: 143,852,865	Y340C	probably damaging	Het
Gm6401	G	T	14: 41,967,770	H44N	probably benign	Het
Gm884	G	C	11: 103,620,652	N163K	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Gpr84	G	A	15: 103,308,510	A380V	probably damaging	Het
Herc1	G	T	9: 66,471,908	W3492L	probably damaging	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Klhl32	T	C	4: 24,629,195	D524G	probably null	Het
Lax1	A	G	1: 133,680,596	S136P	possibly damaging	Het
Lefty1	A	G	1: 180,937,160	K217E	probably benign	Het
Lgr5	A	G	10: 115,478,525	L169P	probably damaging	Het
Mad1l1	A	T	5: 140,315,055	S29T	possibly damaging	Het
Man1a	T	C	10: 54,074,795	H77R	probably benign	Het
Met	C	T	6: 17,558,733	S1120F	probably damaging	Het
Mfsd4b2	A	T	10: 39,921,609	I250N	probably damaging	Het
Myod1	A	G	7: 46,376,881	H70R	possibly damaging	Het
Neb	T	C	2: 52,212,692	N4280S	probably benign	Het
Nudt6	T	C	3: 37,419,489	T28A	possibly damaging	Het
Nup85	A	G	11: 115,583,734	E628G	probably damaging	Het
Oaz3	A	T	3: 94,434,988	D120E	probably damaging	Het
Olfr1031	C	A	2: 85,991,941	N41K	probably damaging	Het
Olfr1105	C	T	2: 87,033,289	A311T	probably benign	Het
Olfr131	A	T	17: 38,082,729	M83K	probably damaging	Het
Olfr1454	A	T	19: 13,063,345		probably benign	Het
Olfr786	A	C	10: 129,436,943	I44L	probably damaging	Het
Osbpl8	A	T	10: 111,273,068	K404*	probably null	Het
Pcdhga2	A	G	18: 37,670,905	N601D	probably damaging	Het
Pld2	T	C	11: 70,554,675	Y638H	probably damaging	Het
Prickle2	C	G	6: 92,458,615	V2L	possibly damaging	Het
Psmd6	G	A	14: 14,116,949	R125C	probably benign	Het
Rnaset2b	G	A	17: 6,991,694	V24I	probably benign	Het
Rusc2	A	T	4: 43,416,416	D574V	probably benign	Het
Scn8a	T	A	15: 100,940,115		probably null	Het
Sec11a	T	C	7: 80,923,131	E134G	probably benign	Het
Senp5	A	G	16: 31,989,884	V157A	probably damaging	Het
Shkbp1	C	T	7: 27,351,695		probably null	Het
Slc43a1	T	C	2: 84,859,784	L435P	probably damaging	Het
Spn	G	A	7: 127,136,723	P204L	possibly damaging	Het
Srr	T	A	11: 74,910,202	Q173L	probably damaging	Het
Star	C	G	8: 25,811,807	T222S	probably benign	Het
Timm22	T	A	11: 76,411,127	Y93N	probably damaging	Het
Tmc4	G	T	7: 3,675,459	Q58K	probably benign	Het
Tmem86b	C	T	7: 4,629,836	M1I	probably null	Het
Tmtc2	A	T	10: 105,369,970	I488N	probably damaging	Het
Tnxb	A	T	17: 34,694,388	Y1792F	probably damaging	Het
Tph1	T	A	7: 46,647,443	R443W	possibly damaging	Het
Ttyh1	T	A	7: 4,129,324	V253E	possibly damaging	Het
Usf3	A	G	16: 44,218,577	D1140G	probably benign	Het
Usp10	T	C	8: 119,941,316	S118P	probably benign	Het
Vmn2r63	C	T	7: 42,903,297	C845Y	probably benign	Het
Vmn2r72	G	T	7: 85,751,174	F222L	probably damaging	Het
Zfp654	G	A	16: 64,786,094	Q582*	probably null	Het
Zfp791	C	T	8: 85,119,650		probably benign	Het
Zfp879	T	A	11: 50,838,475	D32V	probably damaging	Het

Other mutations in Jag2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Jag2	APN	12	112912718	missense	probably benign	0.20
IGL00954:Jag2	APN	12	112920406	missense	possibly damaging	0.50
IGL01532:Jag2	APN	12	112914363	missense	probably damaging	0.98
IGL01646:Jag2	APN	12	112916349	missense	possibly damaging	0.65
IGL02243:Jag2	APN	12	112916345	missense	possibly damaging	0.94
IGL02447:Jag2	APN	12	112912612	missense	probably damaging	1.00
IGL02458:Jag2	APN	12	112915993	missense	probably damaging	0.98
IGL02516:Jag2	APN	12	112910566	missense	probably damaging	1.00
IGL02574:Jag2	APN	12	112915511	missense	probably benign	0.32
IGL02629:Jag2	APN	12	112914514	splice site	probably benign
IGL02873:Jag2	APN	12	112910502	missense	probably benign	0.00
IGL03087:Jag2	APN	12	112913948	missense	possibly damaging	0.60
Jaguarundi	UTSW	12	112915469	critical splice donor site	probably null
R0068:Jag2	UTSW	12	112915193	splice site	probably benign
R0310:Jag2	UTSW	12	112913377	unclassified	probably benign
R0963:Jag2	UTSW	12	112915314	missense	probably damaging	1.00
R1188:Jag2	UTSW	12	112920121	nonsense	probably null
R1256:Jag2	UTSW	12	112914419	missense	possibly damaging	0.50
R1298:Jag2	UTSW	12	112916319	unclassified	probably benign
R1317:Jag2	UTSW	12	112914501	missense	probably benign
R2079:Jag2	UTSW	12	112920377	missense	probably damaging	1.00
R2345:Jag2	UTSW	12	112909064	missense	probably damaging	1.00
R4654:Jag2	UTSW	12	112913646	missense	probably benign	0.13
R4782:Jag2	UTSW	12	112914249	missense	probably benign
R4798:Jag2	UTSW	12	112916632	missense	probably benign	0.01
R5242:Jag2	UTSW	12	112916866	missense	probably damaging	0.97
R5350:Jag2	UTSW	12	112908922	missense	possibly damaging	0.77
R5364:Jag2	UTSW	12	112910534	missense	probably damaging	1.00
R6129:Jag2	UTSW	12	112920349	nonsense	probably null
R6376:Jag2	UTSW	12	112909329	missense	probably benign	0.00
R6819:Jag2	UTSW	12	112910541	missense	probably damaging	1.00
R6844:Jag2	UTSW	12	112916714	missense	probably damaging	1.00
R6968:Jag2	UTSW	12	112914258	missense	probably benign	0.10
R7514:Jag2	UTSW	12	112929052	missense	probably benign	0.19
R7663:Jag2	UTSW	12	112913666	missense	probably damaging	1.00
R7730:Jag2	UTSW	12	112922041	missense	probably damaging	1.00
R7754:Jag2	UTSW	12	112915469	critical splice donor site	probably null
R7828:Jag2	UTSW	12	112913180	missense	probably benign	0.19
R7874:Jag2	UTSW	12	112915946	missense	probably damaging	0.99
R8075:Jag2	UTSW	12	112915274	missense	probably benign	0.05
R8845:Jag2	UTSW	12	112920094	missense	probably damaging	1.00
R8876:Jag2	UTSW	12	112909637	missense	probably benign	0.00
R9117:Jag2	UTSW	12	112913659	nonsense	probably null
R9400:Jag2	UTSW	12	112911988	nonsense	probably null
R9673:Jag2	UTSW	12	112911796	nonsense	probably null
R9688:Jag2	UTSW	12	112908944	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TAAGGGCAGGGTTCCATTCC -3'
(R):5'- CTTTGGCCACTATACCTGCGAC -3'

Sequencing Primer
(F):5'- GCAGGGTTCCATTCCAACTCTATAG -3'
(R):5'- TATACCTGCGACCAGTACGG -3'

Posted On

2018-04-27