Mutagenetix > Incidental Mutation

Incidental Mutation 'R9400:Jag2'

711068

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

D12Ggc2e, Serh

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112871439-112893396 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 112875608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 838 (Y838*)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably null
Transcript: ENSMUST00000075827
AA Change: Y838*

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: Y838*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,211,118 (GRCm39)	N89S	probably benign	Het
9930111J21Rik1	C	T	11: 48,839,244 (GRCm39)	E448K	possibly damaging	Het
Acer1	G	A	17: 57,288,990 (GRCm39)	T40M	probably damaging	Het
Adam1a	T	C	5: 121,657,893 (GRCm39)	T467A	probably benign	Het
Agmat	A	G	4: 141,476,981 (GRCm39)	D129G	probably damaging	Het
Ak8	T	A	2: 28,650,011 (GRCm39)	I346N	probably benign	Het
Ankrd12	A	T	17: 66,291,875 (GRCm39)	V1186E	probably damaging	Het
Ankrd27	T	G	7: 35,316,282 (GRCm39)	L516R	probably damaging	Het
Aplp2	C	A	9: 31,075,855 (GRCm39)	R402L	possibly damaging	Het
Aspm	A	G	1: 139,407,641 (GRCm39)	Y2176C	probably damaging	Het
Boc	T	C	16: 44,319,844 (GRCm39)	D380G		Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chst2	T	C	9: 95,287,642 (GRCm39)	S235G	probably benign	Het
Clca4b	A	G	3: 144,616,953 (GRCm39)	V899A	probably benign	Het
Ddx1	A	G	12: 13,273,703 (GRCm39)	S617P	probably damaging	Het
Etv5	A	T	16: 22,220,476 (GRCm39)	F304I	probably benign	Het
Fmo9	T	G	1: 166,505,243 (GRCm39)	E50A	probably benign	Het
Gbp11	T	C	5: 105,478,841 (GRCm39)	E199G	probably damaging	Het
Gemin5	C	T	11: 58,028,541 (GRCm39)	G893D	probably damaging	Het
Gorab	G	T	1: 163,224,567 (GRCm39)	P78Q	probably damaging	Het
Gprc5a	A	G	6: 135,055,558 (GRCm39)	T2A	probably benign	Het
Gtf3c1	A	G	7: 125,275,683 (GRCm39)	I581T	probably damaging	Het
H6pd	A	G	4: 150,080,248 (GRCm39)	F199S	probably damaging	Het
Hdac3	A	T	18: 38,070,677 (GRCm39)	V426E	possibly damaging	Het
Kat6b	G	T	14: 21,659,826 (GRCm39)	R210L	probably damaging	Het
Kctd11	C	A	11: 69,770,544 (GRCm39)	E165*	probably null	Het
Knl1	T	C	2: 118,931,224 (GRCm39)	V1980A	probably damaging	Het
Lilrb4b	T	C	10: 51,357,319 (GRCm39)	S52P	probably benign	Het
Lrp5	T	G	19: 3,635,272 (GRCm39)	M1535L	probably benign	Het
Lrr1	A	G	12: 69,221,476 (GRCm39)	D206G	probably benign	Het
Lrrd1	G	A	5: 3,899,677 (GRCm39)		probably benign	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Mgat4a	T	C	1: 37,502,025 (GRCm39)	D241G	probably damaging	Het
Mpzl3	A	G	9: 44,986,077 (GRCm39)	Y237C	possibly damaging	Het
Mroh1	A	G	15: 76,336,093 (GRCm39)	E1489G	possibly damaging	Het
Myocd	T	C	11: 65,086,934 (GRCm39)	H331R	probably benign	Het
Myoz1	T	A	14: 20,699,504 (GRCm39)	H278L	probably benign	Het
Or12d2	A	T	17: 37,624,554 (GRCm39)	C240*	probably null	Het
Or1e22	A	T	11: 73,376,807 (GRCm39)	V281E	probably damaging	Het
Or4c104	A	G	2: 88,586,293 (GRCm39)	I242T	possibly damaging	Het
Or5a3	C	A	19: 12,400,274 (GRCm39)	N200K	possibly damaging	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Or5b24	T	A	19: 12,912,878 (GRCm39)	Y259N	probably damaging	Het
Otof	A	T	5: 30,540,863 (GRCm39)		probably null	Het
Pcdha1	A	G	18: 37,064,760 (GRCm39)	I475V	probably benign	Het
Pcgf1	A	G	6: 83,057,066 (GRCm39)	E199G	possibly damaging	Het
Pip	C	A	6: 41,828,782 (GRCm39)	T109K	probably benign	Het
Slc12a7	A	G	13: 73,932,689 (GRCm39)	E59G	probably benign	Het
Slc38a2	T	C	15: 96,591,053 (GRCm39)	I237V	probably benign	Het
Slc6a5	T	C	7: 49,595,267 (GRCm39)	V543A	probably benign	Het
Slc9a2	T	C	1: 40,758,211 (GRCm39)	V250A	possibly damaging	Het
Smarcad1	T	C	6: 65,050,214 (GRCm39)	Y278H	probably damaging	Het
Snx7	A	T	3: 117,630,863 (GRCm39)	N248K	probably benign	Het
Spata6	T	A	4: 111,577,428 (GRCm39)	C9S	probably benign	Het
Stra6l	T	A	4: 45,885,293 (GRCm39)	L587Q	probably damaging	Het
Tmem131l	G	T	3: 83,830,293 (GRCm39)	N916K	possibly damaging	Het
Tmprss11c	C	T	5: 86,385,516 (GRCm39)	V319I	probably benign	Het
Tpo	A	T	12: 30,169,441 (GRCm39)	I98K	possibly damaging	Het
Umodl1	A	G	17: 31,215,367 (GRCm39)	T1064A	probably damaging	Het
Vldlr	T	C	19: 27,216,175 (GRCm39)	I332T	probably damaging	Het
Wdr75	T	A	1: 45,843,064 (GRCm39)	L133Q	probably damaging	Het
Zdhhc21	T	C	4: 82,753,687 (GRCm39)	N167S	probably benign	Het
Zfp37	A	T	4: 62,109,904 (GRCm39)	C428S	probably damaging	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
R6376:Jag2	UTSW	12	112,872,949 (GRCm39)	missense	probably benign	0.00
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
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'- TCCATCCAGGAACTCCCATG -3'
(R):5'- CTTCAGATGGACAGAGACACAG -3'

Sequencing Primer
(F):5'- CCTCGTGAATATGACCACTGTGG -3'
(R):5'- CACAGACAGCCTAGGTAGCTGTG -3'

Posted On

2022-04-20