Mutagenetix > Incidental Mutation

Incidental Mutation 'R8876:Jag2'

676593

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

Serh, D12Ggc2e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8876 (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 112909637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1055 (I1055V)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably benign
Transcript: ENSMUST00000075827
AA Change: I1055V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: I1055V

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

0.0663

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	G	16: 90,927,393	I164T	possibly damaging	Het
Accs	A	C	2: 93,838,058	L356R	probably damaging	Het
Acvr1	A	T	2: 58,448,410	D433E	possibly damaging	Het
Aldh3b1	A	G	19: 3,921,502	L122P	probably damaging	Het
Ap3b1	T	G	13: 94,404,078	N169K	possibly damaging	Het
Apbb2	A	G	5: 66,451,657	S216P	probably benign	Het
Arap3	T	A	18: 37,997,024	H28L	possibly damaging	Het
Arhgap44	C	T	11: 65,008,070	M760I	possibly damaging	Het
Arhgef19	G	T	4: 141,247,882	A304S	probably benign	Het
Arntl2	G	A	6: 146,821,994	G274D	probably benign	Het
Atpaf1	T	C	4: 115,788,351	I139T	possibly damaging	Het
BC024139	G	T	15: 76,126,120	T62K	possibly damaging	Het
Capn5	T	C	7: 98,131,695	T292A	probably benign	Het
Card19	T	C	13: 49,205,338	N53S	possibly damaging	Het
Cep97	A	G	16: 55,922,104	V232A	possibly damaging	Het
Clca2	G	T	3: 145,071,599	T837K	probably benign	Het
Col8a2	G	C	4: 126,310,854	G219A	probably damaging	Het
Ctu2	T	C	8: 122,480,212	S365P		Het
Dnah2	T	C	11: 69,491,522	D1254G	probably damaging	Het
Dscam	A	G	16: 96,619,628	L1686S	probably damaging	Het
Fgr	A	G	4: 132,998,760		probably benign	Het
Frmd4a	T	A	2: 4,601,300	S612T	probably damaging	Het
Gadd45gip1	T	C	8: 84,834,119	I121T	probably damaging	Het
Gapvd1	A	G	2: 34,678,548	V1353A	possibly damaging	Het
Gdf3	G	A	6: 122,606,983	P142S	probably damaging	Het
Gm19965	G	A	1: 116,822,046	G486R	unknown	Het
Gpatch2l	T	C	12: 86,261,631	L307P	probably damaging	Het
Grm3	T	C	5: 9,511,580	K757E	probably damaging	Het
Inppl1	T	A	7: 101,823,543	H1218L	possibly damaging	Het
Krtap9-5	G	T	11: 99,949,514	C347F	unknown	Het
Magi2	T	A	5: 20,651,192	Y1050*	probably null	Het
Myrf	A	G	19: 10,229,014		probably benign	Het
Ntpcr	T	G	8: 125,738,046		probably benign	Het
Olfr1386	T	C	11: 49,470,559	M136T	probably damaging	Het
Olfr404-ps1	C	T	11: 74,240,020	T152I	probably damaging	Het
Olfr525	T	C	7: 140,322,803	Y35H	probably damaging	Het
Palmd	T	G	3: 116,927,250	D145A	probably damaging	Het
Pdcd1	A	G	1: 94,052,430	S21P	probably benign	Het
Pkn1	T	C	8: 83,672,250	T696A	possibly damaging	Het
Pnpt1	T	A	11: 29,146,769		probably benign	Het
Sbf2	T	A	7: 110,449,939	I273F	probably damaging	Het
Slc16a4	A	T	3: 107,300,785	N204Y	probably benign	Het
Slc38a1	T	C	15: 96,616,210	I44V	possibly damaging	Het
Smpdl3a	T	C	10: 57,809,070	V312A	probably damaging	Het
Ston1	A	G	17: 88,635,172	Y2C	probably benign	Het
Syde1	A	T	10: 78,589,491	Y229N	probably damaging	Het
Ttc37	T	G	13: 76,175,284	D1382E	probably benign	Het
Ttc6	T	A	12: 57,737,703	C1853S	possibly damaging	Het
Ttn	A	G	2: 76,778,905	I17650T	possibly damaging	Het
Upf1	T	C	8: 70,344,268	E105G	possibly damaging	Het
Wrn	A	G	8: 33,324,394	W341R	probably benign	Het
Xndc1	C	T	7: 102,080,547	P267L	probably benign	Het
Zbtb26	T	C	2: 37,436,884	T47A	probably benign	Het
Zc3h10	A	T	10: 128,544,294	V398E	probably damaging	Het
Zfp652	G	T	11: 95,749,095		probably benign	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
R8845:Jag2	UTSW	12	112920094	missense	probably damaging	1.00
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'- AAACATCCTGCGTCCACATGG -3'
(R):5'- AGGACCCGATCAGAGTTTGG -3'

Sequencing Primer
(F):5'- CAAGCAGGGACTCTTCTGGTTTC -3'
(R):5'- CAGAGTTTGGGCAGTGGCTATAAC -3'

Posted On

2021-07-15