Mutagenetix > Incidental Mutation

Incidental Mutation 'R9400:Jag2'

711068

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 112911988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 838 (Y838*)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably null
Transcript: ENSMUST00000075827
AA Change: Y838*

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: Y838*

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

probably benign
Transcript: ENSMUST00000223140

Coding Region Coverage

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 8,992,286	N89S	probably benign	Het
9930111J21Rik1	C	T	11: 48,948,417	E448K	possibly damaging	Het
Acer1	G	A	17: 56,981,990	T40M	probably damaging	Het
Adam1a	T	C	5: 121,519,830	T467A	probably benign	Het
Agmat	A	G	4: 141,749,670	D129G	probably damaging	Het
Ak8	T	A	2: 28,759,999	I346N	probably benign	Het
Ankrd12	A	T	17: 65,984,880	V1186E	probably damaging	Het
Ankrd27	T	G	7: 35,616,857	L516R	probably damaging	Het
Aplp2	C	A	9: 31,164,559	R402L	possibly damaging	Het
Aspm	A	G	1: 139,479,903	Y2176C	probably damaging	Het
Boc	T	C	16: 44,499,481	D380G		Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Chst2	T	C	9: 95,405,589	S235G	probably benign	Het
Clca4b	A	G	3: 144,911,192	V899A	probably benign	Het
Ddx1	A	G	12: 13,223,702	S617P	probably damaging	Het
Etv5	A	T	16: 22,401,726	F304I	probably benign	Het
Fmo9	T	G	1: 166,677,674	E50A	probably benign	Het
Gbp11	T	C	5: 105,330,975	E199G	probably damaging	Het
Gemin5	C	T	11: 58,137,715	G893D	probably damaging	Het
Gorab	G	T	1: 163,396,998	P78Q	probably damaging	Het
Gprc5a	A	G	6: 135,078,560	T2A	probably benign	Het
Gtf3c1	A	G	7: 125,676,511	I581T	probably damaging	Het
H6pd	A	G	4: 149,995,791	F199S	probably damaging	Het
Hdac3	A	T	18: 37,937,624	V426E	possibly damaging	Het
Kat6b	G	T	14: 21,609,758	R210L	probably damaging	Het
Kctd11	C	A	11: 69,879,718	E165*	probably null	Het
Knl1	T	C	2: 119,100,743	V1980A	probably damaging	Het
Lilr4b	T	C	10: 51,481,223	S52P	probably benign	Het
Lrp5	T	G	19: 3,585,272	M1535L	probably benign	Het
Lrr1	A	G	12: 69,174,702	D206G	probably benign	Het
Lrrd1	G	A	5: 3,849,677		probably benign	Het
Map3k6	C	A	4: 133,241,156	A23E	probably damaging	Het
Mgat4a	T	C	1: 37,462,944	D241G	probably damaging	Het
Mpzl3	A	G	9: 45,074,779	Y237C	possibly damaging	Het
Mroh1	A	G	15: 76,451,893	E1489G	possibly damaging	Het
Myocd	T	C	11: 65,196,108	H331R	probably benign	Het
Myoz1	T	A	14: 20,649,436	H278L	probably benign	Het
Olfr102	A	T	17: 37,313,663	C240*	probably null	Het
Olfr1199	A	G	2: 88,755,949	I242T	possibly damaging	Het
Olfr1441	C	A	19: 12,422,910	N200K	possibly damaging	Het
Olfr1449	T	A	19: 12,935,514	Y259N	probably damaging	Het
Olfr1454	T	A	19: 13,063,775	Y121*	probably null	Het
Olfr381	A	T	11: 73,485,981	V281E	probably damaging	Het
Otof	A	T	5: 30,383,519		probably null	Het
Pcdha1	A	G	18: 36,931,707	I475V	probably benign	Het
Pcgf1	A	G	6: 83,080,085	E199G	possibly damaging	Het
Pip	C	A	6: 41,851,848	T109K	probably benign	Het
Slc12a7	A	G	13: 73,784,570	E59G	probably benign	Het
Slc38a2	T	C	15: 96,693,172	I237V	probably benign	Het
Slc6a5	T	C	7: 49,945,519	V543A	probably benign	Het
Slc9a2	T	C	1: 40,719,051	V250A	possibly damaging	Het
Smarcad1	T	C	6: 65,073,230	Y278H	probably damaging	Het
Snx7	A	T	3: 117,837,214	N248K	probably benign	Het
Spata6	T	A	4: 111,720,231	C9S	probably benign	Het
Stra6l	T	A	4: 45,885,293	L587Q	probably damaging	Het
Tmem131l	G	T	3: 83,922,986	N916K	possibly damaging	Het
Tmprss11c	C	T	5: 86,237,657	V319I	probably benign	Het
Tpo	A	T	12: 30,119,442	I98K	possibly damaging	Het
Umodl1	A	G	17: 30,996,393	T1064A	probably damaging	Het
Vldlr	T	C	19: 27,238,775	I332T	probably damaging	Het
Wdr75	T	A	1: 45,803,904	L133Q	probably damaging	Het
Zdhhc21	T	C	4: 82,835,450	N167S	probably benign	Het
Zfp37	A	T	4: 62,191,667	C428S	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
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
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
R9673:Jag2	UTSW	12	112911796	nonsense	probably null
R9688:Jag2	UTSW	12	112908944	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TCCATCCAGGAACTCCCATG -3'
(R):5'- CTTCAGATGGACAGAGACACAG -3'

Sequencing Primer
(F):5'- CCTCGTGAATATGACCACTGTGG -3'
(R):5'- CACAGACAGCCTAGGTAGCTGTG -3'

Posted On

2022-04-20