Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02629:Jag2'

301222

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 #

IGL02629

Quality Score

Status

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 112914514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably benign
Transcript: ENSMUST00000075827

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799

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: ENSMUST00000220771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221696

Predicted Effect

probably benign
Transcript: ENSMUST00000223140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223304

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,609,144		probably benign	Het
Aadacl3	A	G	4: 144,463,629	I34T	possibly damaging	Het
Acan	T	A	7: 79,111,979	I1979N	possibly damaging	Het
Ankrd27	A	G	7: 35,625,696	D701G	probably benign	Het
Arhgap31	C	T	16: 38,609,164	G450S	probably benign	Het
Braf	T	C	6: 39,688,299	E45G	possibly damaging	Het
Btnl6	C	T	17: 34,514,468	V178M	probably damaging	Het
Capg	A	T	6: 72,555,754	Q67L	probably benign	Het
Carmil3	A	G	14: 55,499,068	N663S	probably damaging	Het
Casz1	T	A	4: 148,944,391	S1098T	probably benign	Het
Cd55b	A	T	1: 130,419,798		probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cenpf	A	G	1: 189,652,334	L2583P	probably damaging	Het
Clec4a1	A	C	6: 122,932,147		probably null	Het
Corin	T	C	5: 72,332,673	N653S	probably damaging	Het
Dhx36	T	C	3: 62,506,734	E69G	probably benign	Het
Dpy19l1	C	A	9: 24,438,713		probably benign	Het
Fam184a	T	C	10: 53,698,811	N234S	possibly damaging	Het
Foxg1	A	G	12: 49,385,548	S355G	probably benign	Het
Fsd1l	T	C	4: 53,686,417	S277P	probably damaging	Het
Hadh	T	A	3: 131,235,635	D245V	probably damaging	Het
Klhl18	A	T	9: 110,429,938		probably benign	Het
Lmx1a	G	T	1: 167,844,623		probably benign	Het
Mcoln2	A	G	3: 146,170,044	Y89C	probably benign	Het
Mug1	A	T	6: 121,840,065	Y31F	possibly damaging	Het
Ndufb5	A	G	3: 32,737,199	T32A	probably benign	Het
Nub1	C	T	5: 24,703,464	H404Y	possibly damaging	Het
Nudt6	A	G	3: 37,405,171	Y222H	probably benign	Het
Olfr1269	A	T	2: 90,118,857	L247*	probably null	Het
Pla2g4c	A	T	7: 13,335,377	R159*	probably null	Het
Pnpla7	A	G	2: 25,050,945	D1103G	probably damaging	Het
Pof1b	T	G	X: 112,645,237		probably benign	Het
Prrg2	C	T	7: 45,056,742		probably null	Het
Rab3gap1	A	G	1: 127,909,863	T221A	probably benign	Het
Rfx7	A	G	9: 72,619,259	N1244D	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rnf123	A	T	9: 108,070,789		probably benign	Het
Rnf44	T	G	13: 54,683,062	Q207P	possibly damaging	Het
Serpina3g	A	G	12: 104,241,178	D200G	probably damaging	Het
Slc5a4a	T	A	10: 76,147,579	S17T	unknown	Het
Smc4	G	T	3: 69,025,873	C609F	probably damaging	Het
Sync	T	C	4: 129,293,951	F259L	probably damaging	Het
Tas2r113	T	C	6: 132,893,336	L109P	probably damaging	Het
Tjp2	C	A	19: 24,122,379		probably benign	Het
Tmem30a	C	A	9: 79,776,249		probably benign	Het
Unc80	T	C	1: 66,483,317	V226A	possibly damaging	Het
Upk2	A	T	9: 44,454,139	L44Q	probably damaging	Het
Usp42	T	C	5: 143,723,154	Y203C	possibly damaging	Het
Vmn1r28	A	T	6: 58,265,816	I215F	probably benign	Het
Zswim2	A	G	2: 83,925,209	V116A	possibly 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
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

2015-04-16