Mutagenetix > Incidental Mutation

Incidental Mutation 'R6376:Jag2'

514994

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

D12Ggc2e, Serh

MMRRC Submission

044526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6376 (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 112872949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1102 (V1102I)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably benign
Transcript: ENSMUST00000075827
AA Change: V1102I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: V1102I

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: ENSMUST00000220855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221454

Predicted Effect

probably benign
Transcript: ENSMUST00000223140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223304

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,339,456 (GRCm39)	E106D	probably damaging	Het
A830018L16Rik	A	T	1: 11,868,718 (GRCm39)	N333Y	probably damaging	Het
Abca4	T	A	3: 121,917,309 (GRCm39)	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,687,343 (GRCm39)	I495F	probably damaging	Het
Acsl3	T	C	1: 78,674,182 (GRCm39)	S373P	possibly damaging	Het
Adam7	A	G	14: 68,742,546 (GRCm39)	I689T	possibly damaging	Het
Akap11	G	A	14: 78,752,336 (GRCm39)	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,816,187 (GRCm39)	K309R	possibly damaging	Het
Apaf1	A	T	10: 90,859,673 (GRCm39)	I824N	probably damaging	Het
Apc2	T	A	10: 80,148,488 (GRCm39)	C1152S	probably damaging	Het
Arhgap17	C	A	7: 122,899,727 (GRCm39)	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,845,796 (GRCm39)	I19V	unknown	Het
Arnt	C	A	3: 95,397,936 (GRCm39)	P573H	probably damaging	Het
Arvcf	G	A	16: 18,223,882 (GRCm39)	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,553,044 (GRCm39)	W99*	probably null	Het
Atp13a5	T	A	16: 29,056,004 (GRCm39)	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,642,797 (GRCm39)	T1103A	probably damaging	Het
B4galnt4	C	A	7: 140,647,335 (GRCm39)	Q362K	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cep170b	A	T	12: 112,698,502 (GRCm39)	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486 (GRCm39)	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,044 (GRCm39)	Q62L	probably benign	Het
Ctsg	A	T	14: 56,339,110 (GRCm39)	C49*	probably null	Het
Cul9	T	C	17: 46,819,489 (GRCm39)	T2000A	probably damaging	Het
Dedd	C	T	1: 171,167,790 (GRCm39)	P155S	probably benign	Het
Dnah1	A	G	14: 30,997,565 (GRCm39)	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,433,459 (GRCm39)	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703 (GRCm39)	S519R	probably benign	Het
Eea1	A	G	10: 95,874,660 (GRCm39)	S1192G	probably benign	Het
Eif5b	T	C	1: 38,084,760 (GRCm39)	I869T	probably damaging	Het
Elavl4	C	A	4: 110,112,651 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,203,635 (GRCm39)	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,778,757 (GRCm39)	Y144C	probably damaging	Het
Greb1	T	C	12: 16,749,580 (GRCm39)	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,890,798 (GRCm39)		probably null	Het
Hoxc12	C	A	15: 102,845,524 (GRCm39)	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,547,491 (GRCm39)	L164I	probably damaging	Het
Ina	C	T	19: 47,003,564 (GRCm39)	A124V	probably benign	Het
Inhbb	T	A	1: 119,345,411 (GRCm39)	I293F	probably damaging	Het
Itpr3	A	G	17: 27,314,449 (GRCm39)	Y633C	possibly damaging	Het
Kalrn	A	T	16: 33,796,361 (GRCm39)	F1138Y	probably benign	Het
Large2	T	A	2: 92,200,853 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,959,966 (GRCm39)	S177P	probably benign	Het
Lims2	G	A	18: 32,087,515 (GRCm39)	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,313,787 (GRCm39)	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,459,391 (GRCm39)	T6P	probably benign	Het
Lrrk2	T	C	15: 91,626,469 (GRCm39)	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,978,378 (GRCm39)	M302K	probably damaging	Het
Mocos	G	A	18: 24,834,542 (GRCm39)	G860R	possibly damaging	Het
Mylk3	T	A	8: 86,085,571 (GRCm39)	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,201,240 (GRCm39)	D6N	probably damaging	Het
Nrp2	A	G	1: 62,758,176 (GRCm39)	N54S	possibly damaging	Het
Nt5el	T	C	13: 105,256,473 (GRCm39)	I514T	possibly damaging	Het
Or2d2	A	G	7: 106,727,848 (GRCm39)	F251L	probably benign	Het
Pacsin1	A	T	17: 27,926,879 (GRCm39)	T195S	probably benign	Het
Pank4	T	C	4: 155,056,693 (GRCm39)		probably null	Het
Pdgfra	A	T	5: 75,327,180 (GRCm39)	M126L	probably benign	Het
Podxl	T	A	6: 31,505,432 (GRCm39)	T204S	probably benign	Het
Pole	G	A	5: 110,484,240 (GRCm39)	D2175N	probably damaging	Het
Pramel16	C	T	4: 143,677,267 (GRCm39)	G104E	probably benign	Het
Prkdc	A	G	16: 15,587,749 (GRCm39)	K2545E	probably benign	Het
Prodh	T	C	16: 17,897,849 (GRCm39)	I183V	probably benign	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,684,988 (GRCm39)	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,269,834 (GRCm39)	N164S	probably benign	Het
Samd4	A	T	14: 47,290,419 (GRCm39)	L175F	probably damaging	Het
Scart1	G	A	7: 139,808,642 (GRCm39)	G851D	probably damaging	Het
Scimp	C	A	11: 70,688,893 (GRCm39)	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,291,843 (GRCm39)	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,030,888 (GRCm39)	R957G	probably benign	Het
Sptlc3	T	A	2: 139,478,692 (GRCm39)	N550K	probably benign	Het
Srebf1	T	C	11: 60,094,361 (GRCm39)	N609D	probably null	Het
Styxl1	A	T	5: 135,776,664 (GRCm39)	L164H	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,267 (GRCm39)	M19V	probably damaging	Het
Trappc8	G	C	18: 20,970,132 (GRCm39)	R953G	probably benign	Het
Trav13-1	A	G	14: 53,782,800 (GRCm39)	N50S	probably benign	Het
Trim12a	T	C	7: 103,955,241 (GRCm39)	K161E	probably benign	Het
Vipr1	C	A	9: 121,493,640 (GRCm39)	N230K	probably damaging	Het
Xirp1	A	T	9: 119,847,557 (GRCm39)	V3E	probably damaging	Het
Zfp768	A	G	7: 126,943,892 (GRCm39)	F82L	probably benign	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
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
R6968:Jag2	UTSW	12	112,877,878 (GRCm39)	missense	probably benign	0.10
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'- GTAGAGTATGTCCTTGTGGCCC -3'
(R):5'- GCTCTTCCACAGGTAAGCTG -3'

Sequencing Primer
(F):5'- CCCAGTTCCCAGACCGCTG -3'
(R):5'- CTCAAGACCAGTGGGAATCTGC -3'

Posted On

2018-05-04