Mutagenetix > Incidental Mutation

Incidental Mutation 'R7514:Jag2'

582341

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

MMRRC Submission

045587-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7514 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112929052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 83 (T83A)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably benign
Transcript: ENSMUST00000075827
AA Change: T83A

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: T83A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,195,802	L261P	probably damaging	Het
A4gnt	A	G	9: 99,620,545	I253V	probably benign	Het
Acap2	A	T	16: 31,154,567		probably null	Het
Adora2b	G	T	11: 62,265,320	M198I	probably damaging	Het
Akap5	C	A	12: 76,328,529	T245K	probably benign	Het
Aldh1a2	T	C	9: 71,284,963	I399T	probably damaging	Het
Ank2	G	A	3: 127,025,603	S473L	probably benign	Het
Anln	A	T	9: 22,360,857	D655E	probably damaging	Het
Arhgef10	T	C	8: 14,975,956	V820A	probably benign	Het
Arid1b	A	G	17: 5,341,714	K1787E	probably benign	Het
Art4	T	C	6: 136,854,741	H134R	probably benign	Het
Borcs6	G	A	11: 69,060,584	V263M	probably damaging	Het
C8a	A	T	4: 104,846,050	M314K	possibly damaging	Het
Cbfa2t3	T	G	8: 122,635,126	M386L	probably damaging	Het
Ccdc170	T	A	10: 4,546,839	V459E	probably benign	Het
Cdh4	T	A	2: 179,890,843	N699K	possibly damaging	Het
Cdk12	T	C	11: 98,222,658	L756P	unknown	Het
Chsy1	A	G	7: 66,172,120	D701G	probably damaging	Het
Cnot9	A	G	1: 74,528,762	T270A	probably benign	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Cyb5r1	A	G	1: 134,410,530	E228G	probably damaging	Het
D630003M21Rik	A	G	2: 158,217,353	L209P	probably damaging	Het
Dennd2c	T	A	3: 103,163,062	D791E	probably benign	Het
Dnah14	T	C	1: 181,628,067	I919T	probably damaging	Het
Dpp8	T	C	9: 65,078,754	L842S	probably damaging	Het
Ern1	A	G	11: 106,409,893		probably null	Het
Exo1	T	C	1: 175,906,666		probably null	Het
Fam161b	T	G	12: 84,357,738	E56A	possibly damaging	Het
Fbrsl1	T	C	5: 110,432,933	T153A	probably benign	Het
Fcgr3	T	G	1: 171,059,343	D4A	probably benign	Het
Gltp	C	T	5: 114,670,460	A193T	probably benign	Het
Gm10031	A	G	1: 156,524,754	D175G	probably benign	Het
Gm13178	A	T	4: 144,703,228	V397D	possibly damaging	Het
Gm3159	A	T	14: 4,399,690	S142C	probably damaging	Het
Gphn	T	C	12: 78,626,165	V485A	probably damaging	Het
Grik2	A	T	10: 49,523,808	N275K	probably damaging	Het
Gstt3	G	T	10: 75,776,791	Q102K	probably damaging	Het
Hivep3	T	A	4: 120,096,855	F789L	possibly damaging	Het
Ing5	A	G	1: 93,816,442	N157D	possibly damaging	Het
Itga3	C	T	11: 95,065,896	W177*	probably null	Het
Krt90	G	A	15: 101,553,170	T532I	unknown	Het
Lcn2	A	G	2: 32,387,849		probably null	Het
Lrig2	A	G	3: 104,465,760	S602P	probably damaging	Het
Lsm1	A	C	8: 25,792,209	R33S	probably damaging	Het
Mast4	A	T	13: 102,787,426	Y492*	probably null	Het
Mcm3	A	T	1: 20,805,896	L658Q	probably benign	Het
Myh4	G	A	11: 67,243,322		probably null	Het
Nck2	T	C	1: 43,569,221	V341A	probably benign	Het
Nucb1	T	C	7: 45,501,718		probably null	Het
Nup210l	G	C	3: 90,210,459		probably null	Het
Olfr1039	A	T	2: 86,131,628	F12I	probably damaging	Het
Olfr3	A	G	2: 36,812,639	I151T	probably benign	Het
Olfr837	A	T	9: 19,137,865	S291C	possibly damaging	Het
Olfr912	T	A	9: 38,582,051	M258K	probably damaging	Het
Olfr921	G	A	9: 38,775,678	C141Y	probably damaging	Het
Pla2g4a	G	A	1: 149,851,362	P556S	probably damaging	Het
Plat	T	C	8: 22,775,642	C234R	probably damaging	Het
Ppfia1	T	C	7: 144,517,713	I321V	probably benign	Het
Prrc1	T	A	18: 57,363,253	V92E	probably benign	Het
Prss3	A	G	6: 41,373,914	V214A	probably damaging	Het
Ptprg	G	T	14: 12,179,342	K786N	possibly damaging	Het
Rabgap1	G	T	2: 37,537,342	G645V	probably damaging	Het
Rfx4	T	C	10: 84,880,226	S470P	probably damaging	Het
Rin3	C	T	12: 102,369,650	Q607*	probably null	Het
Sema3a	A	G	5: 13,523,126	H207R	probably benign	Het
Serpinb12	G	A	1: 106,950,804	E181K	probably damaging	Het
Serpinb6c	G	A	13: 33,897,403	Q88*	probably null	Het
Shmt1	A	C	11: 60,801,986	C90W	probably damaging	Het
Slc16a13	C	T	11: 70,218,884	V264M	probably damaging	Het
Slc17a8	G	T	10: 89,592,107	P286Q	probably damaging	Het
Slc27a6	C	T	18: 58,612,221	Q576*	probably null	Het
Slc30a9	T	C	5: 67,348,078	S470P	possibly damaging	Het
Slc44a2	G	T	9: 21,342,472	K136N	possibly damaging	Het
Smarca5	A	T	8: 80,717,534	H534Q	probably damaging	Het
Son	T	G	16: 91,654,860	L165R	probably damaging	Het
Sox10	G	A	15: 79,156,221	P373L	probably benign	Het
Sp100	C	T	1: 85,681,139	R330*	probably null	Het
Srrm4	A	G	5: 116,446,511	L500P	probably damaging	Het
Tap1	T	C	17: 34,196,665	L689P	probably damaging	Het
Tfg	A	G	16: 56,705,609		probably null	Het
Tjp2	C	T	19: 24,111,522	V677I	probably benign	Het
Tmprss11g	T	G	5: 86,497,317	D85A	probably damaging	Het
Tnfsf9	T	C	17: 57,107,238	S222P	probably damaging	Het
Trank1	A	G	9: 111,364,756	N616S	probably damaging	Het
Tubgcp6	C	A	15: 89,120,525	W297L	probably damaging	Het
Twist1	T	C	12: 33,958,356	S127P	probably damaging	Het
Ubr4	T	C	4: 139,452,655	I247T	unknown	Het
Ubr5	G	A	15: 37,988,237	T2153M		Het
Utrn	A	G	10: 12,698,089	V1079A	probably benign	Het
Vcan	T	C	13: 89,704,118	T908A	probably damaging	Het
Vmn2r104	A	G	17: 20,029,529	F827L	probably damaging	Het
Vmn2r111	T	A	17: 22,548,399	T706S	probably benign	Het
Vmn2r114	T	C	17: 23,308,061	D499G	probably null	Het
Vmn2r92	T	C	17: 18,171,271	S512P	probably damaging	Het
Vps4b	A	T	1: 106,780,502		probably null	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wnt10b	T	C	15: 98,774,164	Q224R	probably benign	Het
Ylpm1	C	T	12: 85,030,494	P1331L	possibly damaging	Het
Zfhx4	G	A	3: 5,242,207	M164I	possibly damaging	Het
Zfp51	A	G	17: 21,463,500	T126A	probably benign	Het
Zfp609	A	G	9: 65,706,136	V339A	probably benign	Het
Zfp687	C	T	3: 95,007,530	R1220H	probably damaging	Het
Zfyve21	C	T	12: 111,823,815	L84F	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
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
R9400:Jag2	UTSW	12	112911988	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'- GACGTAGGCACACTCCGAG -3'
(R):5'- GGCTATTTCGAGCTGCAGC -3'

Sequencing Primer
(F):5'- AACCTGGCCGCAAGAGC -3'
(R):5'- AACGTGAACGGGGAGCTGCT -3'

Posted On

2019-10-17