Mutagenetix > Incidental Mutation

Incidental Mutation 'R7663:Jag2'

591730

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112907819-112929776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112913666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 695 (D695G)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000075827
AA Change: D695G

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

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: D695G

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

Meta Mutation Damage Score

0.5895

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,126	T359A	probably damaging	Het
Abcd4	A	C	12: 84,606,129	V433G	probably damaging	Het
Acot5	C	A	12: 84,069,581	R39S	probably damaging	Het
Actl9	T	C	17: 33,433,469	S168P	probably damaging	Het
Adam15	A	G	3: 89,345,806	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,790,314	Q289R	possibly damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Asah1	C	T	8: 41,341,627	R385Q	probably damaging	Het
AW549877	T	C	15: 3,988,683	Y170C	probably damaging	Het
Bicc1	T	C	10: 70,946,590	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,498,614		probably null	Het
Cdhr4	A	T	9: 107,998,772	R750*	probably null	Het
Cep290	T	A	10: 100,554,536		probably null	Het
Clca3a1	T	A	3: 144,737,036	D749V	probably benign	Het
Clcn1	C	T	6: 42,310,063	P685S	possibly damaging	Het
Clk1	A	G	1: 58,421,160	S104P	probably damaging	Het
Commd10	T	C	18: 47,086,256	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,877,509	C213*	probably null	Het
Dnah14	A	T	1: 181,752,155		probably null	Het
Dock2	C	T	11: 34,721,027	G170R	probably damaging	Het
Fam186a	T	G	15: 99,945,069	H1098P	probably benign	Het
Flt1	T	C	5: 147,655,120	T511A	probably benign	Het
Fmo1	A	C	1: 162,836,297	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,962,804	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,962,808	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,775,362	S93R	possibly damaging	Het
Gm10251	A	C	14: 6,675,701		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gys2	C	T	6: 142,459,485	R192H	probably damaging	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Hectd4	C	A	5: 121,324,031	A987E	probably benign	Het
Herc2	G	A	7: 56,136,685	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,059,934	T88A	probably benign	Het
Kazn	A	T	4: 142,104,898	D663E		Het
Krt79	T	C	15: 101,931,843	D306G	probably damaging	Het
Lama1	T	A	17: 67,780,880	C1498S		Het
Ldb1	T	C	19: 46,035,524	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,904,739	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,653,035		probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,191,609	Y2377F	probably damaging	Het
Neb	T	A	2: 52,230,047	Y721F		Het
Ntf3	A	G	6: 126,101,815	S243P	probably damaging	Het
Olfr1195	G	C	2: 88,683,352	P127A	probably damaging	Het
Olfr1480	G	T	19: 13,530,445	M301I	probably damaging	Het
Olfr593	T	C	7: 103,212,445	M195T	possibly damaging	Het
Pdk1	G	A	2: 71,875,398		probably null	Het
Pdzd2	A	G	15: 12,373,203	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,747,433	F517L	probably benign	Het
Plch2	T	A	4: 154,991,162	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,883,208	R603W	probably damaging	Het
Pltp	A	T	2: 164,857,006		probably null	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Psmb3	G	T	11: 97,712,492	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,418,415	V764A	probably benign	Het
Rel	T	C	11: 23,742,713	D440G	probably benign	Het
Rims2	T	A	15: 39,507,026	V952E	probably damaging	Het
Samd4b	G	T	7: 28,423,500	C44*	probably null	Het
Slamf8	C	A	1: 172,588,038	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493	N111K	possibly damaging	Het
Slc7a5	A	T	8: 121,887,535	Y264*	probably null	Het
Srsf2	T	C	11: 116,852,294	S134G	unknown	Het
Stag1	T	A	9: 100,738,138	M98K	probably damaging	Het
Trib1	T	C	15: 59,651,713	S199P	probably damaging	Het
Txnip	T	C	3: 96,559,837	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,244,741	T176I	not run	Het
Vmn1r222	A	G	13: 23,232,431	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,927,042	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,479,122	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,472,185	H728L	probably damaging	Het
Zfp69	G	A	4: 120,935,126	A151V	probably benign	Het
Zfp738	A	G	13: 67,683,401		probably null	Het
Zfp974	T	C	7: 27,911,685	E205G	possibly 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
R7514:Jag2	UTSW	12	112929052	missense	probably benign	0.19
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'- TCATAGCATGTGCCACCGTTG -3'
(R):5'- TACATGGGCCTGAAGTCATG -3'

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

Posted On

2019-11-12