Mutagenetix > Incidental Mutation

Incidental Mutation 'R6968:Jag2'

542134

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

D12Ggc2e, Serh

MMRRC Submission

045078-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112871439-112893396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112877878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 592 (E592K)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably benign
Transcript: ENSMUST00000075827
AA Change: E592K

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: E592K

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: 99.2%
20x: 97.1%

Validation Efficiency

97% (57/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	T	2: 102,919,798 (GRCm39)	L125F	possibly damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arhgef5	T	C	6: 43,252,276 (GRCm39)	V1009A	probably benign	Het
Asah2	A	T	19: 31,989,913 (GRCm39)	I489K	probably benign	Het
Bace1	A	G	9: 45,766,263 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ccdc162	T	C	10: 41,549,840 (GRCm39)	T348A	possibly damaging	Het
Cdkn2aip	C	A	8: 48,166,922 (GRCm39)		probably benign	Het
Cep78	A	C	19: 15,959,102 (GRCm39)	F111V	probably benign	Het
Chd4	T	A	6: 125,085,281 (GRCm39)	L784Q	probably damaging	Het
Chrna6	C	T	8: 27,896,683 (GRCm39)	C398Y	probably benign	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Cpne2	C	T	8: 95,275,130 (GRCm39)	P46L	probably damaging	Het
Cyp2w1	A	G	5: 139,339,746 (GRCm39)	Q112R	probably damaging	Het
Entpd3	A	T	9: 120,389,722 (GRCm39)	E336V	probably benign	Het
Fbxw28	A	C	9: 109,159,856 (GRCm39)	S197A	probably benign	Het
Foxk2	T	C	11: 121,151,308 (GRCm39)	F118L	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hinfp	A	C	9: 44,209,282 (GRCm39)	S306A	probably benign	Het
Hspg2	T	A	4: 137,262,467 (GRCm39)	V1663E	probably damaging	Het
Inpp4b	T	C	8: 82,571,086 (GRCm39)	I125T	probably benign	Het
Krt23	T	A	11: 99,371,900 (GRCm39)	E317V	probably damaging	Het
Ltbp2	C	T	12: 84,835,857 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,934,586 (GRCm39)	N152K	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mier2	G	A	10: 79,376,476 (GRCm39)		probably benign	Het
Mmp9	A	G	2: 164,794,860 (GRCm39)	T584A	probably benign	Het
Necab1	T	C	4: 14,957,852 (GRCm39)	E335G	probably damaging	Het
Nlrp9b	T	A	7: 19,783,433 (GRCm39)	N925K	probably damaging	Het
Nr4a2	T	C	2: 56,998,758 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,329,499 (GRCm39)	I239V	probably benign	Het
Nsun2	A	G	13: 69,779,409 (GRCm39)	D562G	probably benign	Het
Odad2	T	C	18: 7,273,155 (GRCm39)		probably null	Het
Or1e31	A	G	11: 73,690,205 (GRCm39)	I126T	possibly damaging	Het
Ormdl3	T	A	11: 98,474,941 (GRCm39)	M1L	probably benign	Het
Pcdh10	T	A	3: 45,333,977 (GRCm39)	V97D	probably damaging	Het
Pde3a	T	C	6: 141,433,658 (GRCm39)	F847L	probably damaging	Het
Ppp1r13b	C	A	12: 111,799,612 (GRCm39)	V722F	possibly damaging	Het
Rhoh	A	G	5: 66,049,862 (GRCm39)	D44G	possibly damaging	Het
Riox1	C	T	12: 83,998,147 (GRCm39)	R228C	probably damaging	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Saxo2	T	C	7: 82,292,969 (GRCm39)	T43A	probably damaging	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sema3f	C	T	9: 107,568,648 (GRCm39)		probably null	Het
Snap25	T	C	2: 136,611,690 (GRCm39)	M64T	probably benign	Het
Spef2	T	C	15: 9,597,426 (GRCm39)	N1410S	probably benign	Het
Sstr2	T	C	11: 113,515,774 (GRCm39)	I231T	probably damaging	Het
Stam	A	T	2: 14,120,829 (GRCm39)	H78L	probably damaging	Het
Suox	C	T	10: 128,507,702 (GRCm39)	V109I	possibly damaging	Het
Syne1	T	C	10: 5,067,041 (GRCm39)	R7075G	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tln1	C	T	4: 43,550,217 (GRCm39)	R482Q	probably benign	Het
Tnrc6a	T	C	7: 122,781,650 (GRCm39)	V1440A	probably benign	Het
Togaram2	A	G	17: 72,016,608 (GRCm39)	D655G	probably damaging	Het
Trgv2	A	T	13: 19,520,896 (GRCm39)	I66K	probably damaging	Het
Vmn1r113	A	T	7: 20,521,876 (GRCm39)	I223F	probably damaging	Het
Vmn2r62	T	A	7: 42,437,866 (GRCm39)	H206L	probably benign	Het
Zan	T	A	5: 137,460,075 (GRCm39)	Y1272F	unknown	Het
Zfp39	T	C	11: 58,782,306 (GRCm39)	H152R	probably benign	Het
Zfp41	T	A	15: 75,490,310 (GRCm39)	Y87*	probably null	Het
Zfp933	A	T	4: 147,910,654 (GRCm39)	L314H	probably damaging	Het

Other mutations in Jag2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Jag2	APN	12	112,876,338 (GRCm39)	missense	probably benign	0.20
IGL00954:Jag2	APN	12	112,884,026 (GRCm39)	missense	possibly damaging	0.50
IGL01532:Jag2	APN	12	112,877,983 (GRCm39)	missense	probably damaging	0.98
IGL01646:Jag2	APN	12	112,879,969 (GRCm39)	missense	possibly damaging	0.65
IGL02243:Jag2	APN	12	112,879,965 (GRCm39)	missense	possibly damaging	0.94
IGL02447:Jag2	APN	12	112,876,232 (GRCm39)	missense	probably damaging	1.00
IGL02458:Jag2	APN	12	112,879,613 (GRCm39)	missense	probably damaging	0.98
IGL02516:Jag2	APN	12	112,874,186 (GRCm39)	missense	probably damaging	1.00
IGL02574:Jag2	APN	12	112,879,131 (GRCm39)	missense	probably benign	0.32
IGL02629:Jag2	APN	12	112,878,134 (GRCm39)	splice site	probably benign
IGL02873:Jag2	APN	12	112,874,122 (GRCm39)	missense	probably benign	0.00
IGL03087:Jag2	APN	12	112,877,568 (GRCm39)	missense	possibly damaging	0.60
Jaguarundi	UTSW	12	112,879,089 (GRCm39)	critical splice donor site	probably null
R0068:Jag2	UTSW	12	112,878,813 (GRCm39)	splice site	probably benign
R0310:Jag2	UTSW	12	112,876,997 (GRCm39)	unclassified	probably benign
R0963:Jag2	UTSW	12	112,878,934 (GRCm39)	missense	probably damaging	1.00
R1188:Jag2	UTSW	12	112,883,741 (GRCm39)	nonsense	probably null
R1256:Jag2	UTSW	12	112,878,039 (GRCm39)	missense	possibly damaging	0.50
R1298:Jag2	UTSW	12	112,879,939 (GRCm39)	unclassified	probably benign
R1317:Jag2	UTSW	12	112,878,121 (GRCm39)	missense	probably benign
R2079:Jag2	UTSW	12	112,883,997 (GRCm39)	missense	probably damaging	1.00
R2345:Jag2	UTSW	12	112,872,684 (GRCm39)	missense	probably damaging	1.00
R4654:Jag2	UTSW	12	112,877,266 (GRCm39)	missense	probably benign	0.13
R4782:Jag2	UTSW	12	112,877,869 (GRCm39)	missense	probably benign
R4798:Jag2	UTSW	12	112,880,252 (GRCm39)	missense	probably benign	0.01
R5242:Jag2	UTSW	12	112,880,486 (GRCm39)	missense	probably damaging	0.97
R5350:Jag2	UTSW	12	112,872,542 (GRCm39)	missense	possibly damaging	0.77
R5364:Jag2	UTSW	12	112,874,154 (GRCm39)	missense	probably damaging	1.00
R6129:Jag2	UTSW	12	112,883,969 (GRCm39)	nonsense	probably null
R6362:Jag2	UTSW	12	112,883,742 (GRCm39)	missense	probably damaging	0.97
R6376:Jag2	UTSW	12	112,872,949 (GRCm39)	missense	probably benign	0.00
R6819:Jag2	UTSW	12	112,874,161 (GRCm39)	missense	probably damaging	1.00
R6844:Jag2	UTSW	12	112,880,334 (GRCm39)	missense	probably damaging	1.00
R7514:Jag2	UTSW	12	112,892,672 (GRCm39)	missense	probably benign	0.19
R7663:Jag2	UTSW	12	112,877,286 (GRCm39)	missense	probably damaging	1.00
R7730:Jag2	UTSW	12	112,885,661 (GRCm39)	missense	probably damaging	1.00
R7754:Jag2	UTSW	12	112,879,089 (GRCm39)	critical splice donor site	probably null
R7828:Jag2	UTSW	12	112,876,800 (GRCm39)	missense	probably benign	0.19
R7874:Jag2	UTSW	12	112,879,566 (GRCm39)	missense	probably damaging	0.99
R8075:Jag2	UTSW	12	112,878,894 (GRCm39)	missense	probably benign	0.05
R8845:Jag2	UTSW	12	112,883,714 (GRCm39)	missense	probably damaging	1.00
R8876:Jag2	UTSW	12	112,873,257 (GRCm39)	missense	probably benign	0.00
R9117:Jag2	UTSW	12	112,877,279 (GRCm39)	nonsense	probably null
R9400:Jag2	UTSW	12	112,875,608 (GRCm39)	nonsense	probably null
R9673:Jag2	UTSW	12	112,875,416 (GRCm39)	nonsense	probably null
R9688:Jag2	UTSW	12	112,872,564 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GTCGTCAATGTCTGAGGGAG -3'
(R):5'- CTTGAGGGTGACTACTACTGCG -3'

Sequencing Primer
(F):5'- AGGATGGGTGAGCTGTCCC -3'
(R):5'- GCCTGCCCAGAAGACTTTG -3'

Posted On

2018-11-28