Mutagenetix > Incidental Mutations

Incidental Mutation 'R7874:Jag2'

608339

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 #

R7874 (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 112915946 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 401 (V401M)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075827
AA Change: V401M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: V401M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	A	3: 6,620,141	K84N	probably damaging	Het
Aacs	T	C	5: 125,506,207	F276L	possibly damaging	Het
Aicda	T	A	6: 122,561,949	I179N	probably damaging	Het
Anks6	T	A	4: 47,049,275	H210L	unknown	Het
Ano1	G	A	7: 144,621,724	R486W	probably damaging	Het
Atp8b1	A	G	18: 64,571,024	V341A	probably benign	Het
AY761184	C	A	8: 21,702,796	R61S	possibly damaging	Het
Btn1a1	T	C	13: 23,459,215	T355A	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Ceacam19	A	T	7: 19,886,438	D89E	probably damaging	Het
Cerkl	T	A	2: 79,338,637	R407S	probably damaging	Het
Chl1	A	G	6: 103,690,263	T389A	probably benign	Het
Dcn	A	G	10: 97,510,194		probably null	Het
Dhtkd1	T	C	2: 5,917,674	Q558R	possibly damaging	Het
Dhx36	C	A	3: 62,488,631	V452L	probably benign	Het
Dlg5	A	G	14: 24,135,619	V1906A	probably damaging	Het
Emc4	T	C	2: 112,363,833	T159A	probably damaging	Het
Fstl5	C	A	3: 76,661,786	P582Q	probably benign	Het
Gm960	C	T	19: 4,658,423	C347Y	probably damaging	Het
Izumo1r	T	A	9: 14,900,579	Y171F	probably benign	Het
Jph2	C	T	2: 163,375,842	G305S	probably damaging	Het
Kbtbd13	C	A	9: 65,390,302	V451L	probably benign	Het
Map3k12	T	C	15: 102,500,642	T813A	possibly damaging	Het
Mast4	A	G	13: 102,739,275	L1295P	probably damaging	Het
Mia2	T	A	12: 59,108,588	D362E	probably damaging	Het
Mospd3	T	C	5: 137,600,028	Y77C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Mup8	T	A	4: 60,222,420	H17L	probably damaging	Het
Naip2	C	T	13: 100,154,951	D1160N	not run	Het
Naip2	T	C	13: 100,154,960	S1157G	probably benign	Het
Ndnf	A	T	6: 65,703,429	M231L	probably benign	Het
Obscn	T	G	11: 59,133,276	T523P	probably damaging	Het
Olfr325	T	C	11: 58,581,747	V301A	possibly damaging	Het
P4htm	G	T	9: 108,596,949	A130E	probably benign	Het
Phc3	A	T	3: 30,936,714	D439E	probably benign	Het
Phlpp1	A	G	1: 106,389,873	I1275V	probably benign	Het
Poln	A	T	5: 34,024,350	I719N	probably damaging	Het
Ptch2	T	A	4: 117,105,964	L216Q	possibly damaging	Het
Rarres2	T	A	6: 48,572,145	K41N	probably benign	Het
Rasal3	C	T	17: 32,396,707	E386K	possibly damaging	Het
Rev3l	T	C	10: 39,822,495	I996T	possibly damaging	Het
Rreb1	A	G	13: 37,947,124	N36S	probably damaging	Het
Serpinb9d	T	A	13: 33,202,671		probably null	Het
Slc14a2	A	G	18: 78,160,768	V526A	probably benign	Het
Slc45a4	T	C	15: 73,584,335		probably null	Het
Srrm2	G	A	17: 23,815,678	R432H	unknown	Het
Svs1	A	G	6: 48,988,666	N536S	possibly damaging	Het
Th	G	A	7: 142,895,571	R266*	probably null	Het
Tln1	T	C	4: 43,538,041	Y1853C	probably damaging	Het
Tln1	A	T	4: 43,555,606	D169E	probably damaging	Het
Tmcc3	G	A	10: 94,551,027		probably null	Het
Tnxb	A	G	17: 34,711,443	E2034G	probably damaging	Het
Ttc4	T	C	4: 106,665,684	T346A	probably benign	Het
Vmn2r5	A	T	3: 64,491,032	V842E	probably damaging	Het
Vmn2r82	T	G	10: 79,396,511	N781K	probably damaging	Het
Zdhhc17	A	T	10: 110,982,117	Y67N	possibly damaging	Het
Zfp273	A	G	13: 67,825,439	T229A	probably benign	Het
Zkscan5	A	C	5: 145,220,866	H726P	probably damaging	Het
Zswim8	A	G	14: 20,723,149	H1769R	probably damaging	Het
Zzef1	T	C	11: 72,859,653	V929A	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
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
R8075:Jag2	UTSW	12	112915274	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACTCATTGGCGTCTGTGAATG -3'
(R):5'- ACACGATCCCACGTTCACTG -3'

Sequencing Primer
(F):5'- CATTGGCGTCTGTGAATGAGACAAG -3'
(R):5'- GGCCATAGTCTGTACCCGTTGAC -3'

Posted On

2019-12-20