Mutagenetix > Incidental Mutation

Incidental Mutation 'R4798:Jag2'

369242

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

MMRRC Submission

042422-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112916632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 337 (D337E)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably benign
Transcript: ENSMUST00000075827
AA Change: D337E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: D337E

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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (111/114)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,624,965	D617E	probably benign	Het
2210408I21Rik	T	C	13: 77,323,724	W1083R	possibly damaging	Het
Adamts10	T	A	17: 33,528,752	L54Q	probably damaging	Het
Ankrd24	A	C	10: 81,643,315		probably benign	Het
Atg2b	A	G	12: 105,652,629	S813P	probably benign	Het
Atp13a3	T	A	16: 30,341,240	I716F	probably damaging	Het
Atp6v1c1	T	A	15: 38,689,176	W294R	probably damaging	Het
Atrnl1	G	T	19: 58,042,361	A1312S	probably benign	Het
B230359F08Rik	T	A	14: 53,795,951	C106S	probably damaging	Het
Bcl2	A	T	1: 106,712,608	H91Q	possibly damaging	Het
Cacna1c	G	A	6: 118,630,302	Q1214*	probably null	Het
Cacna1g	C	A	11: 94,433,847	G1183W	probably damaging	Het
Capsl	A	T	15: 9,461,742	M75L	probably benign	Het
Ccdc122	T	G	14: 77,111,607		probably benign	Het
Ccdc57	T	G	11: 120,881,857	R645S	possibly damaging	Het
Cdh8	T	A	8: 99,024,926	R720*	probably null	Het
Cenpx	T	G	11: 120,711,784		probably benign	Het
Clic3	T	C	2: 25,458,182	S114P	probably damaging	Het
Crtac1	A	T	19: 42,323,801	W158R	possibly damaging	Het
Dhrs11	T	A	11: 84,828,800	Q33L	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dpp9	G	T	17: 56,191,016	Q647K	probably damaging	Het
Egf	C	T	3: 129,716,678	G64D	probably damaging	Het
Eif2b4	C	T	5: 31,189,520		probably benign	Het
Epas1	A	G	17: 86,805,839	N151S	probably benign	Het
Fastkd1	A	T	2: 69,691,307	I707K	probably benign	Het
Fbln2	A	G	6: 91,269,186	T1005A	probably benign	Het
Fgfrl1	T	A	5: 108,703,497	Y93*	probably null	Het
Fktn	A	G	4: 53,744,637	T306A	probably benign	Het
Gabbr2	T	G	4: 46,991,139	Y96S	possibly damaging	Het
Gm16332	A	T	1: 139,891,658		noncoding transcript	Het
Gm5145	G	T	17: 20,570,548	V63F	probably damaging	Het
Gm9970	G	T	5: 31,241,085		probably benign	Het
Gpr158	A	G	2: 21,783,182	T545A	probably damaging	Het
Heatr1	G	A	13: 12,412,048	E685K	probably benign	Het
Herc6	A	T	6: 57,604,166	I284F	probably damaging	Het
Hook1	C	G	4: 96,002,557	A301G	possibly damaging	Het
Hpcal4	T	A	4: 123,190,698	M140K	possibly damaging	Het
Il11ra1	T	C	4: 41,766,096		probably benign	Het
Ildr1	A	T	16: 36,722,555	H439L	possibly damaging	Het
Itga11	A	G	9: 62,776,727		probably null	Het
Krt82	C	T	15: 101,550,488	R39Q	probably benign	Het
L3mbtl4	T	A	17: 68,359,480	M1K	probably null	Het
Lrrc32	T	G	7: 98,499,017	F335V	probably damaging	Het
Lurap1l	T	A	4: 80,911,413	V20E	probably damaging	Het
Lyar	T	A	5: 38,227,886	V90D	possibly damaging	Het
Man2c1	C	T	9: 57,141,185	R778*	probably null	Het
Mapk6	A	G	9: 75,388,432	F595L	probably benign	Het
Mccc1	A	G	3: 35,985,001	I281T	probably damaging	Het
Mep1b	T	C	18: 21,093,254	V391A	probably damaging	Het
Mier1	G	A	4: 103,130,998	D40N	probably damaging	Het
Mkx	T	C	18: 7,002,432	H38R	probably benign	Het
Mroh4	A	G	15: 74,626,179	L184P	probably damaging	Het
Muc2	C	A	7: 141,754,140	N834K	probably benign	Het
Mycl	A	G	4: 123,000,256	D283G	probably damaging	Het
Myh6	T	C	14: 54,953,293	N975S	probably damaging	Het
Myl12a	A	G	17: 70,996,302		probably benign	Het
Mysm1	T	C	4: 94,965,673	T230A	probably benign	Het
Naca	A	G	10: 128,047,803	K2099R	probably null	Het
Nbeal1	T	G	1: 60,222,193		probably null	Het
Nedd1	A	G	10: 92,698,910	V246A	probably benign	Het
Nid2	A	G	14: 19,789,761	D806G	probably benign	Het
Ninl	G	A	2: 150,959,881	R156*	probably null	Het
Obscn	T	A	11: 59,069,859	I3418F	probably damaging	Het
Olfr970	T	A	9: 39,819,897	V86E	probably benign	Het
Pappa2	T	C	1: 158,857,379	N730S	probably damaging	Het
Pcm1	G	A	8: 41,293,678	D1305N	probably damaging	Het
Pcsk4	A	T	10: 80,323,104	I485N	probably damaging	Het
Phldb2	T	C	16: 45,825,874	R111G	probably damaging	Het
Prdm10	T	C	9: 31,341,273	F385S	probably damaging	Het
Prkcsh	C	T	9: 22,011,738	P351L	probably damaging	Het
Prrc2a	G	A	17: 35,150,042	P2006L	probably damaging	Het
Rad51c	T	C	11: 87,395,378	D251G	probably damaging	Het
Radil	A	G	5: 142,485,163	F1088L	probably benign	Het
Rere	C	A	4: 150,615,167		probably benign	Het
Rnf167	T	A	11: 70,650,135	C196S	probably benign	Het
Robo2	T	A	16: 74,352,745	Y65F	probably damaging	Het
Scarf2	G	A	16: 17,803,507	C319Y	probably damaging	Het
Sec24c	A	G	14: 20,693,712	D995G	probably damaging	Het
Selenbp1	T	C	3: 94,943,900	L369S	probably benign	Het
Sgpl1	A	T	10: 61,123,344	I53K	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc1a6	A	T	10: 78,800,118	Y339F	probably damaging	Het
Smchd1	G	T	17: 71,360,053	Y1781*	probably null	Het
Smg1	T	C	7: 118,180,474	S1233G	probably benign	Het
Snap91	A	T	9: 86,783,454		probably benign	Het
Snx29	T	A	16: 11,420,736	L112Q	probably damaging	Het
Sptbn5	T	C	2: 120,059,141		probably benign	Het
Srl	A	T	16: 4,492,358	H502Q	possibly damaging	Het
St5	C	T	7: 109,557,033	G170D	probably damaging	Het
St8sia3	A	G	18: 64,271,749	M366V	probably benign	Het
Stk19	A	T	17: 34,822,509		probably benign	Het
Syngap1	G	A	17: 26,961,449	A611T	probably benign	Het
Tas2r113	A	G	6: 132,893,707	T233A	possibly damaging	Het
Tbcc	G	A	17: 46,891,219	W177*	probably null	Het
Tcstv3	T	A	13: 120,318,082		probably null	Het
Trmt61a	G	A	12: 111,678,713	V28M	possibly damaging	Het
Ubap2l	G	A	3: 90,020,903	T553M	probably damaging	Het
Urb1	T	C	16: 90,757,827	N1839S	probably benign	Het
Ush2a	T	C	1: 188,743,545	L2893P	probably damaging	Het
Usp24	G	A	4: 106,360,162	V421M	possibly damaging	Het
Vmn1r43	T	C	6: 89,869,910	E198G	probably benign	Het
Vps13d	A	C	4: 145,178,056	S130A	probably damaging	Het
Zfp426	T	A	9: 20,471,014	I211F	probably benign	Het
Znfx1	T	C	2: 167,038,569		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGCAGAACCAGAACATG -3'
(R):5'- TGTGACTGTGAGACCAACTGG -3'

Sequencing Primer
(F):5'- ATGAGTGGAGCGATGCCCAC -3'
(R):5'- CCTGCTCTGTGACAAAGGTAG -3'

Posted On

2016-02-04