Mutagenetix > Incidental Mutations

Incidental Mutation 'R8845:Jag2'

674671

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8845 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112920094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 256 (C256S)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000075827
AA Change: C256S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: C256S

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: 99.6%
20x: 98.7%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,849	V488E	probably benign	Het
Abca14	C	T	7: 120,247,205	P627S	probably benign	Het
Abca4	G	A	3: 122,137,002	V1383M	probably damaging	Het
Acer3	A	G	7: 98,261,625	S77P	probably damaging	Het
Adgrv1	G	T	13: 81,481,359	T3640N	possibly damaging	Het
Agmo	T	C	12: 37,244,365	L104P	probably benign	Het
Alox12	C	A	11: 70,247,051	G421V	probably damaging	Het
Atad2	A	G	15: 58,126,136	V182A	probably damaging	Het
Bnc2	C	T	4: 84,276,101	A929T	possibly damaging	Het
Bola3	T	C	6: 83,358,172	M83T	probably damaging	Het
Brca2	T	C	5: 150,543,382	F2204L	possibly damaging	Het
Cachd1	T	C	4: 100,953,146	V315A	probably benign	Het
Ccdc154	C	A	17: 25,171,164	N547K	probably damaging	Het
Ccdc62	C	A	5: 123,954,407	T485K	probably benign	Het
Cdc40	G	A	10: 40,841,794	T371I	possibly damaging	Het
Cep112	T	C	11: 108,570,367	F657L	probably damaging	Het
Cirbp	A	G	10: 80,170,097	D62G	probably damaging	Het
Cntf	A	C	19: 12,764,300	S65R	probably benign	Het
Cxxc4	CGGC	CGGCGGGGGC	3: 134,240,151		probably benign	Het
Cyfip1	G	T	7: 55,930,086	G1229V	probably benign	Het
Cyp4a30b	A	C	4: 115,458,296	N238T	probably benign	Het
Dbx2	G	A	15: 95,654,636	R43C	probably benign	Het
Fbxw13	G	T	9: 109,194,765	F70L	possibly damaging	Het
Fhod3	A	G	18: 25,132,919	T1555A	probably damaging	Het
Fnbp4	A	G	2: 90,776,024	M763V	probably benign	Het
Gdf7	A	G	12: 8,298,905	S131P	unknown	Het
Gm11639	A	T	11: 105,008,961	I4350F	possibly damaging	Het
Gm9938	A	T	19: 23,724,577	E93V	unknown	Het
Golim4	A	T	3: 75,894,965	M340K	probably damaging	Het
Gphn	A	G	12: 78,492,179	S200G	probably benign	Het
Hpse	T	C	5: 100,711,382	D99G	probably benign	Het
Iqgap2	A	T	13: 95,657,884	N1193K	possibly damaging	Het
Ldb3	T	C	14: 34,536,677	Y657C	probably damaging	Het
Lmtk2	T	A	5: 144,173,886	Y475N	probably damaging	Het
Mep1b	A	T	18: 21,097,322	K644*	probably null	Het
Muc4	A	C	16: 32,756,515	T60P	possibly damaging	Het
Nckap5	G	T	1: 125,981,686	Q1603K	possibly damaging	Het
Npy6r	C	T	18: 44,275,539	T9I	probably benign	Het
Nsd2	T	C	5: 33,882,541	C846R	probably damaging	Het
Oard1	A	C	17: 48,414,231	K64Q	probably benign	Het
Olfr1151	G	T	2: 87,857,201	V9L	probably benign	Het
Olfr1195	T	A	2: 88,683,391	I114F	possibly damaging	Het
Olfr603	A	T	7: 103,383,150	V284D	probably damaging	Het
Olfr784	A	G	10: 129,388,196	T188A	probably damaging	Het
Pkhd1l1	T	G	15: 44,505,254	S823A	probably benign	Het
Pla2r1	A	G	2: 60,428,709	S1112P	possibly damaging	Het
Plekho2	T	C	9: 65,558,681	T142A	probably damaging	Het
Prrc2b	T	A	2: 32,212,093	M726K	possibly damaging	Het
Prrc2b	A	T	2: 32,216,150	K1514I	possibly damaging	Het
Rin1	A	T	19: 5,054,919	D669V	probably damaging	Het
Setd1b	C	T	5: 123,144,247	A146V	unknown	Het
Sigmar1	G	A	4: 41,741,234	R7W	probably damaging	Het
Slain1	C	T	14: 103,688,311	T365I	possibly damaging	Het
Slc38a2	G	A	15: 96,695,019	T186I	probably benign	Het
Tas2r130	A	T	6: 131,630,679	V51E	probably benign	Het
Tgfb1i1	A	T	7: 128,252,518	H332L	possibly damaging	Het
Trav7n-4	T	C	14: 53,091,389	L15S	probably damaging	Het
Ttc28	T	C	5: 111,224,175	V861A	probably benign	Het
Ttn	T	C	2: 76,776,036	E18143G	probably damaging	Het
Ttn	A	G	2: 76,802,314	I14132T	probably damaging	Het
Vmn1r203	C	T	13: 22,524,550	S167L	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,099	H387Q	probably benign	Het
Vps33a	A	T	5: 123,571,475		probably null	Het
Vps50	G	A	6: 3,504,926	V31I	probably benign	Het
Wdcp	A	G	12: 4,851,439	T432A	probably benign	Het
Wdr36	T	A	18: 32,861,045	Y645*	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTAAGGGCAGGGTTCCATTC -3'
(R):5'- TTTGGCCACTATACCTGCGAC -3'

Sequencing Primer
(F):5'- GCAGGGTTCCATTCCAACTCTATAG -3'
(R):5'- TATACCTGCGACCAGTACGG -3'

Posted On

2021-07-15