Mutagenetix > Incidental Mutations

Incidental Mutation 'R6376:Jag2'

514994

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112909329 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1102 (V1102I)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075827
AA Change: V1102I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: V1102I

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: ENSMUST00000220855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221454

Predicted Effect

probably benign
Transcript: ENSMUST00000223140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223304

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,428,156	E106D	probably damaging	Het
4933425L06Rik	T	C	13: 105,119,965	I514T	possibly damaging	Het
A830018L16Rik	A	T	1: 11,798,494	N333Y	probably damaging	Het
Abca4	T	A	3: 122,123,660	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,856,998	I495F	probably damaging	Het
Acsl3	T	C	1: 78,696,465	S373P	possibly damaging	Het
Adam7	A	G	14: 68,505,097	I689T	possibly damaging	Het
Akap11	G	A	14: 78,514,896	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,888,465	K309R	possibly damaging	Het
Apaf1	A	T	10: 91,023,811	I824N	probably damaging	Het
Apc2	T	A	10: 80,312,654	C1152S	probably damaging	Het
Arhgap17	C	A	7: 123,300,504	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,954,970	I19V	unknown	Het
Arnt	C	A	3: 95,490,625	P573H	probably damaging	Het
Arvcf	G	A	16: 18,405,132	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,645,728	W99*	probably null	Het
Atp13a5	T	A	16: 29,237,252	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,715,059	T1103A	probably damaging	Het
B4galnt4	C	A	7: 141,067,422	Q362K	possibly damaging	Het
Cd163l1	G	A	7: 140,228,729	G851D	probably damaging	Het
Cd320	T	A	17: 33,847,517	N90K	probably benign	Het
Cep170b	A	T	12: 112,732,068	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,045	Q62L	probably benign	Het
Ctsg	A	T	14: 56,101,653	C49*	probably null	Het
Cul9	T	C	17: 46,508,563	T2000A	probably damaging	Het
Dedd	C	T	1: 171,340,222	P155S	probably benign	Het
Dnah1	A	G	14: 31,275,608	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,605,894	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703	S519R	probably benign	Het
Eea1	A	G	10: 96,038,798	S1192G	probably benign	Het
Eif5b	T	C	1: 38,045,679	I869T	probably damaging	Het
Elavl4	C	A	4: 110,255,454		probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ets2	G	A	16: 95,718,993	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,469,710	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,728,729	Y144C	probably damaging	Het
Greb1	T	C	12: 16,699,579	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,953,988		probably null	Het
Hoxc12	C	A	15: 102,937,089	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,409,432	L164I	probably damaging	Het
Ina	C	T	19: 47,015,125	A124V	probably benign	Het
Inhbb	T	A	1: 119,417,681	I293F	probably damaging	Het
Itpr3	A	G	17: 27,095,475	Y633C	possibly damaging	Het
Kalrn	A	T	16: 33,975,991	F1138Y	probably benign	Het
Large2	T	A	2: 92,370,508		probably benign	Het
Lats2	A	G	14: 57,722,509	S177P	probably benign	Het
Lims2	G	A	18: 31,954,462	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,483,443	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,629,046	T6P	probably benign	Het
Lrrk2	T	C	15: 91,742,266	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,821,034	M302K	probably damaging	Het
Mocos	G	A	18: 24,701,485	G860R	possibly damaging	Het
Mylk3	T	A	8: 85,358,942	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,599,511	D6N	probably damaging	Het
Nrp2	A	G	1: 62,719,017	N54S	possibly damaging	Het
Olfr715	A	G	7: 107,128,641	F251L	probably benign	Het
Pacsin1	A	T	17: 27,707,905	T195S	probably benign	Het
Pank4	T	C	4: 154,972,236		probably null	Het
Pdgfra	A	T	5: 75,166,519	M126L	probably benign	Het
Podxl	T	A	6: 31,528,497	T204S	probably benign	Het
Pole	G	A	5: 110,336,374	D2175N	probably damaging	Het
Pramef25	C	T	4: 143,950,697	G104E	probably benign	Het
Prkdc	A	G	16: 15,769,885	K2545E	probably benign	Het
Prodh	T	C	16: 18,079,985	I183V	probably benign	Het
Ptch1	T	C	13: 63,543,608	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,721,253	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,032,394	N164S	probably benign	Het
Samd4	A	T	14: 47,052,962	L175F	probably damaging	Het
Scimp	C	A	11: 70,798,067	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,461,499	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,203,322	R957G	probably benign	Het
Sptlc3	T	A	2: 139,636,772	N550K	probably benign	Het
Srebf1	T	C	11: 60,203,535	N609D	probably null	Het
Styxl1	A	T	5: 135,747,810	L164H	probably benign	Het
Synpo2l	A	T	14: 20,660,634	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,745,030	M19V	probably damaging	Het
Trappc8	G	C	18: 20,837,075	R953G	probably benign	Het
Trav13-1	A	G	14: 53,545,343	N50S	probably benign	Het
Trim12a	T	C	7: 104,306,034	K161E	probably benign	Het
Vipr1	C	A	9: 121,664,574	N230K	probably damaging	Het
Xirp1	A	T	9: 120,018,491	V3E	probably damaging	Het
Zfp768	A	G	7: 127,344,720	F82L	probably benign	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
R6362:Jag2	UTSW	12	112920122	missense	probably damaging	0.97
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

Predicted Primers

PCR Primer
(F):5'- GTAGAGTATGTCCTTGTGGCCC -3'
(R):5'- GCTCTTCCACAGGTAAGCTG -3'

Sequencing Primer
(F):5'- CCCAGTTCCCAGACCGCTG -3'
(R):5'- CTCAAGACCAGTGGGAATCTGC -3'

Posted On

2018-05-04