Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00954:Jag2'

28764

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00954

Quality Score

Status

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112920406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 184 (S184R)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075827
AA Change: S184R

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: S184R

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

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,839,685		probably benign	Het
Alox5	A	T	6: 116,454,299	V56D	probably damaging	Het
Atp1a2	A	G	1: 172,290,634	S158P	probably damaging	Het
B3glct	T	A	5: 149,696,437	M19K	probably benign	Het
BC049715	A	T	6: 136,840,095	E111V	possibly damaging	Het
Casp8ap2	C	A	4: 32,645,403	T1492K	probably damaging	Het
Cfap221	T	C	1: 119,934,209	E612G	probably damaging	Het
Cttnbp2	C	A	6: 18,381,062	K868N	possibly damaging	Het
Dpy19l2	T	A	9: 24,582,818	N672I	probably damaging	Het
Ei24	A	T	9: 36,789,870	I51N	probably damaging	Het
Gdi2	T	C	13: 3,556,467	V181A	probably benign	Het
Ggt1	G	A	10: 75,584,863	R354Q	probably benign	Het
H2afy	A	G	13: 56,074,319	S340P	possibly damaging	Het
Hao1	A	G	2: 134,498,261	I370T	possibly damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kctd16	A	G	18: 40,258,800	D147G	probably benign	Het
Kiss1r	T	C	10: 79,922,000	L396P	probably damaging	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lrrc66	G	T	5: 73,608,398	T434K	possibly damaging	Het
Mcm5	A	T	8: 75,110,112	N64Y	possibly damaging	Het
Mroh2b	A	T	15: 4,903,054	Y54F	probably damaging	Het
Olfr122	T	A	17: 37,772,614	N329K	probably benign	Het
Olfr830	T	A	9: 18,876,073	S249T	probably benign	Het
Osgep	T	A	14: 50,916,162	I320F	probably benign	Het
Pcdh18	T	A	3: 49,756,389	D159V	probably damaging	Het
Phf20l1	G	A	15: 66,641,908	V978I	probably damaging	Het
Phospho1	T	A	11: 95,831,083	V193E	probably damaging	Het
Pip4k2b	T	C	11: 97,744,505	K34E	probably damaging	Het
Plb1	T	C	5: 32,298,514		probably benign	Het
Safb2	A	G	17: 56,578,639		probably null	Het
Sgsh	T	A	11: 119,346,485	E434D	probably benign	Het
Tkt	C	T	14: 30,569,095	H355Y	probably damaging	Het
Tmem128	A	G	5: 38,262,045	N47S	probably damaging	Het
Tmem232	A	G	17: 65,500,153	I15T	probably damaging	Het
Tns1	A	C	1: 73,924,969	V1501G	probably damaging	Het
Vmn2r24	G	A	6: 123,815,637	C641Y	probably damaging	Het
Vmn2r77	A	G	7: 86,800,767	T74A	probably benign	Het
Zfp820	T	C	17: 21,819,879	Y156C	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
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
R6362:Jag2	UTSW	12	112920122	missense	probably damaging	0.97
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

Posted On

2013-04-17