Mutagenetix > Incidental Mutation

Incidental Mutation 'R7663:Jag2'

591730

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

D12Ggc2e, Serh

MMRRC Submission

045738-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112871439-112893396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112877286 bp (GRCm39)

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: 137,771,887 (GRCm39)	T359A	probably damaging	Het
Abcd4	A	C	12: 84,652,903 (GRCm39)	V433G	probably damaging	Het
Acot5	C	A	12: 84,116,355 (GRCm39)	R39S	probably damaging	Het
Actl9	T	C	17: 33,652,443 (GRCm39)	S168P	probably damaging	Het
Adam15	A	G	3: 89,253,113 (GRCm39)	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,617,879 (GRCm39)	Q289R	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asah1	C	T	8: 41,794,664 (GRCm39)	R385Q	probably damaging	Het
Bicc1	T	C	10: 70,782,420 (GRCm39)	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,448,614 (GRCm39)		probably null	Het
Cdhr4	A	T	9: 107,875,971 (GRCm39)	R750*	probably null	Het
Cep290	T	A	10: 100,390,398 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,442,797 (GRCm39)	D749V	probably benign	Het
Clcn1	C	T	6: 42,286,997 (GRCm39)	P685S	possibly damaging	Het
Clk1	A	G	1: 58,460,319 (GRCm39)	S104P	probably damaging	Het
Commd10	T	C	18: 47,219,323 (GRCm39)	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,865,953 (GRCm39)	C213*	probably null	Het
Dnah14	A	T	1: 181,579,720 (GRCm39)		probably null	Het
Dock2	C	T	11: 34,611,854 (GRCm39)	G170R	probably damaging	Het
Fam186a	T	G	15: 99,842,950 (GRCm39)	H1098P	probably benign	Het
Flt1	T	C	5: 147,591,930 (GRCm39)	T511A	probably benign	Het
Fmo1	A	C	1: 162,663,866 (GRCm39)	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,651,126 (GRCm39)	S93R	possibly damaging	Het
Gm3629	A	C	14: 17,875,685 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gys2	C	T	6: 142,405,211 (GRCm39)	R192H	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hectd4	C	A	5: 121,462,094 (GRCm39)	A987E	probably benign	Het
Herc2	G	A	7: 55,786,433 (GRCm39)	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,023,554 (GRCm39)	T88A	probably benign	Het
Kazn	A	T	4: 141,832,209 (GRCm39)	D663E		Het
Krt79	T	C	15: 101,840,278 (GRCm39)	D306G	probably damaging	Het
Lama1	T	A	17: 68,087,875 (GRCm39)	C1498S		Het
Ldb1	T	C	19: 46,023,963 (GRCm39)	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,740,573 (GRCm39)	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,543,047 (GRCm39)		probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,429,045 (GRCm39)	Y2377F	probably damaging	Het
Neb	T	A	2: 52,120,059 (GRCm39)	Y721F		Het
Ntf3	A	G	6: 126,078,778 (GRCm39)	S243P	probably damaging	Het
Or4c103	G	C	2: 88,513,696 (GRCm39)	P127A	probably damaging	Het
Or52s1	T	C	7: 102,861,652 (GRCm39)	M195T	possibly damaging	Het
Or5b121	G	T	19: 13,507,809 (GRCm39)	M301I	probably damaging	Het
Pdk1	G	A	2: 71,705,742 (GRCm39)		probably null	Het
Pdzd2	A	G	15: 12,373,289 (GRCm39)	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,824,497 (GRCm39)	F517L	probably benign	Het
Plch2	T	A	4: 155,075,619 (GRCm39)	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,922,367 (GRCm39)	R603W	probably damaging	Het
Pltp	A	T	2: 164,698,926 (GRCm39)		probably null	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Psmb3	G	T	11: 97,603,318 (GRCm39)	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,260,335 (GRCm39)	V764A	probably benign	Het
Rel	T	C	11: 23,692,713 (GRCm39)	D440G	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Rims2	T	A	15: 39,370,422 (GRCm39)	V952E	probably damaging	Het
Samd4b	G	T	7: 28,122,925 (GRCm39)	C44*	probably null	Het
Slamf8	C	A	1: 172,415,605 (GRCm39)	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493 (GRCm39)	N111K	possibly damaging	Het
Slc7a5	A	T	8: 122,614,274 (GRCm39)	Y264*	probably null	Het
Srsf2	T	C	11: 116,743,120 (GRCm39)	S134G	unknown	Het
Stag1	T	A	9: 100,620,191 (GRCm39)	M98K	probably damaging	Het
Trib1	T	C	15: 59,523,562 (GRCm39)	S199P	probably damaging	Het
Txnip	T	C	3: 96,467,153 (GRCm39)	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,428,911 (GRCm39)	T176I	not run	Het
Vmn1r222	A	G	13: 23,416,601 (GRCm39)	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,576,466 (GRCm39)	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,308,054 (GRCm39)	H728L	probably damaging	Het
Zfp69	G	A	4: 120,792,323 (GRCm39)	A151V	probably benign	Het
Zfp738	A	G	13: 67,831,520 (GRCm39)		probably null	Het
Zfp974	T	C	7: 27,611,110 (GRCm39)	E205G	possibly 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
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'- TCATAGCATGTGCCACCGTTG -3'
(R):5'- TACATGGGCCTGAAGTCATG -3'

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

Posted On

2019-11-12