Mutagenetix > Incidental Mutation

Incidental Mutation 'R4654:Jag2'

351568

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

MMRRC Submission

041914-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112913646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 702 (D702N)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably benign
Transcript: ENSMUST00000075827
AA Change: D702N

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: D702N

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

noncoding transcript
Transcript: ENSMUST00000220771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221696

Predicted Effect

probably benign
Transcript: ENSMUST00000223140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223304

Meta Mutation Damage Score

0.1655

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (98/101)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230113P08Rik	T	A	9: 35,908,991	C4S	probably damaging	Het
Adam3	A	T	8: 24,703,803	C398S	probably damaging	Het
Adamts10	A	G	17: 33,537,330	K316E	possibly damaging	Het
AI314180	A	T	4: 58,834,523	I785N	possibly damaging	Het
Ap1m1	T	C	8: 72,252,873	F238L	possibly damaging	Het
Aph1a	T	A	3: 95,895,776	D180E	probably benign	Het
Atp9b	A	G	18: 80,891,878	F201L	probably benign	Het
Btbd9	A	C	17: 30,485,587		probably benign	Het
C2cd5	T	C	6: 143,030,184	T768A	probably benign	Het
Casq1	C	T	1: 172,210,398		probably benign	Het
Cltc	A	T	11: 86,726,370	M351K	probably benign	Het
Cnp	A	G	11: 100,579,051	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,973,695	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279	S117P	probably benign	Het
Cyp2b13	T	C	7: 26,061,647	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,436,457	V500A	probably benign	Het
Dclk2	T	C	3: 86,836,376	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,859,519	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,253,488	*429W	probably null	Het
Dennd5b	T	C	6: 149,006,837	N986S	probably damaging	Het
Dusp9	G	A	X: 73,640,772	R182Q	probably benign	Het
Edil3	A	G	13: 89,289,470	K397E	probably damaging	Het
Ehd1	T	C	19: 6,276,964		probably benign	Het
Fam13a	A	T	6: 58,987,167	H93Q	probably benign	Het
Fam207a	T	C	10: 77,490,026	M170V	possibly damaging	Het
Fam69a	T	C	5: 107,910,116		probably null	Het
Farp1	T	C	14: 121,276,304	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,765,429	I216F	probably damaging	Het
Gadl1	G	A	9: 115,941,340	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,380,979	V122A	probably damaging	Het
Hdac10	C	T	15: 89,126,833		probably benign	Het
Heatr5b	T	C	17: 78,820,701	S502G	possibly damaging	Het
Hr	C	A	14: 70,563,573	A695E	probably damaging	Het
Ift80	A	T	3: 68,918,537	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,834,184		probably benign	Het
Iqch	T	G	9: 63,524,913	Y400S	probably damaging	Het
Kiss1r	T	A	10: 79,921,790	L326Q	probably damaging	Het
Lexm	C	A	4: 106,610,415	M341I	probably benign	Het
Lrrc42	A	T	4: 107,247,549	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,196,536	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,765,681	S1674P	probably damaging	Het
Mctp2	A	G	7: 72,090,194	L816P	probably damaging	Het
Mipol1	A	T	12: 57,306,132	T86S	probably benign	Het
Mkrn3	C	T	7: 62,419,704	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849	V302A	probably benign	Het
Msc	A	T	1: 14,755,829		probably null	Het
Msmo1	C	A	8: 64,727,854	V9L	probably benign	Het
Nbeal2	G	A	9: 110,632,004	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,133,701	V12I	possibly damaging	Het
Npas3	T	C	12: 54,062,132		probably null	Het
Nr2e3	A	G	9: 59,949,072		probably benign	Het
Oca2	C	T	7: 56,328,812	A576V	probably benign	Het
Olfr1444	T	A	19: 12,862,232	C152*	probably null	Het
Olfr212	T	C	6: 116,516,448	Y224H	probably damaging	Het
Olfr5	T	C	7: 6,481,046	T37A	probably benign	Het
Parp6	A	G	9: 59,641,100		probably null	Het
Phlpp1	A	T	1: 106,339,501	M715L	probably benign	Het
Pi4k2a	G	A	19: 42,113,105		probably null	Het
Pik3ap1	A	G	19: 41,327,909	S305P	probably damaging	Het
Plcg2	G	A	8: 117,504,315	M45I	probably benign	Het
Ppm1m	A	T	9: 106,196,402	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,558,799	M341R	probably benign	Het
Prdx3	A	G	19: 60,865,236	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,163,047	V773A	possibly damaging	Het
Raly	T	C	2: 154,857,456	V60A	probably damaging	Het
Reps1	A	G	10: 18,114,400	D420G	probably damaging	Het
Rev1	A	T	1: 38,079,256		probably benign	Het
Rgs2	T	G	1: 144,002,912		probably benign	Het
Rlf	G	T	4: 121,150,601	T394K	probably benign	Het
Rptn	A	T	3: 93,397,485	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,572,574	M402K	probably benign	Het
Skiv2l	A	G	17: 34,849,946	C26R	probably damaging	Het
Smpd4	A	G	16: 17,642,128		probably benign	Het
Synj2	A	G	17: 6,013,538	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,707,365	F64I	probably benign	Het
Tex21	A	C	12: 76,217,086	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,720,971	V145A	probably benign	Het
Ttn	C	T	2: 76,786,592		probably benign	Het
Uggt2	A	G	14: 119,032,258	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,486,224	S175P	probably damaging	Het
Vcl	A	G	14: 20,985,752		probably null	Het
Vegfa	A	T	17: 46,025,250		probably benign	Het
Vmn2r68	G	A	7: 85,233,561	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,719,443	Y142H	probably benign	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Ybx3	G	T	6: 131,370,327	R282S	probably damaging	Het
Zfp566	T	C	7: 30,077,769	H329R	probably damaging	Het
Zfp786	T	C	6: 47,820,934	I357V	probably benign	Het
Zfr2	C	A	10: 81,251,249		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
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
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'- CATAGCATGTGCCACCGTTG -3'
(R):5'- ACATGGGCCTGAAGTCATG -3'

Sequencing Primer
(F):5'- CACCGTTGCTGCAGGTGTAG -3'
(R):5'- CCTGAAGTCATGGGGTGGAATCC -3'

Posted On

2015-10-08