Mutagenetix > Incidental Mutation

Incidental Mutation 'R5364:Jag2'

423040

Institutional Source

Beutler Lab

Gene Symbol

Jag2

Ensembl Gene

ENSMUSG00000002799

Gene Name

jagged 2

Synonyms

D12Ggc2e, Serh

MMRRC Submission

042942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112871439-112893396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112874154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1000 (L1000F)

Ref Sequence

ENSEMBL: ENSMUSP00000075224 (fasta)

Gene Model

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

AlphaFold

Q9QYE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000075827
AA Change: L1000F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075224
Gene: ENSMUSG00000002799
AA Change: L1000F

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

noncoding transcript
Transcript: ENSMUST00000221647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221696

Predicted Effect

probably benign
Transcript: ENSMUST00000223140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223304

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.3%

Validation Efficiency

100% (102/102)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abcc10	G	A	17: 46,616,577 (GRCm39)	R1205C	probably benign	Het
Acer1	A	G	17: 57,289,000 (GRCm39)	F37L	probably damaging	Het
Acp7	C	A	7: 28,310,448 (GRCm39)	G463V	probably benign	Het
Actr2	A	T	11: 20,050,797 (GRCm39)		probably benign	Het
Adam15	A	T	3: 89,252,902 (GRCm39)	I272K	probably damaging	Het
Adam1b	T	A	5: 121,638,946 (GRCm39)	I700F	possibly damaging	Het
Adam33	A	G	2: 130,896,392 (GRCm39)		probably null	Het
Ano1	T	C	7: 144,190,941 (GRCm39)	Y380C	probably damaging	Het
Arfgap3	A	C	15: 83,198,562 (GRCm39)	M307R	probably damaging	Het
Arhgap21	T	A	2: 20,854,533 (GRCm39)	R1610W	probably damaging	Het
Bbs2	A	G	8: 94,801,023 (GRCm39)	Y603H	probably benign	Het
Bbs9	G	T	9: 22,486,492 (GRCm39)		probably null	Het
Bcar3	A	C	3: 122,323,281 (GRCm39)	M779L	probably benign	Het
Bub3	A	T	7: 131,162,467 (GRCm39)	N10I	possibly damaging	Het
Cacna1c	T	G	6: 118,633,504 (GRCm39)	E1098D	probably benign	Het
Cacna1g	T	A	11: 94,307,684 (GRCm39)	M1738L	probably benign	Het
Camk2d	G	T	3: 126,574,069 (GRCm39)	G159C	probably damaging	Het
Ccdc51	A	T	9: 108,921,188 (GRCm39)	E358D	possibly damaging	Het
Cdc42bpa	A	G	1: 179,894,747 (GRCm39)	D309G	probably benign	Het
Cdhr3	A	T	12: 33,101,007 (GRCm39)	F468I	possibly damaging	Het
Chrd	A	G	16: 20,551,898 (GRCm39)	M1V	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcdc2b	T	C	4: 129,502,963 (GRCm39)	Y253C	probably damaging	Het
Dclk1	A	C	3: 55,163,366 (GRCm39)	N153H	possibly damaging	Het
Dgkg	G	T	16: 22,419,211 (GRCm39)	S96R	probably benign	Het
Dnah9	A	G	11: 65,772,522 (GRCm39)	Y3737H	possibly damaging	Het
Elovl4	A	T	9: 83,672,076 (GRCm39)	I81N	probably benign	Het
Epha7	T	A	4: 28,950,557 (GRCm39)	Y791N	probably damaging	Het
Fam193a	C	A	5: 34,623,597 (GRCm39)	T1395N	probably benign	Het
Fbln5	A	T	12: 101,737,623 (GRCm39)	V141E	probably damaging	Het
Flii	T	C	11: 60,610,954 (GRCm39)	T492A	probably benign	Het
Fnip2	A	G	3: 79,388,475 (GRCm39)	I752T	probably benign	Het
Fpr3	T	C	17: 18,190,806 (GRCm39)	W26R	probably benign	Het
Gabrb1	A	T	5: 72,294,105 (GRCm39)	T460S	probably benign	Het
Gde1	T	C	7: 118,297,874 (GRCm39)	N4S	probably benign	Het
Ghitm	G	T	14: 36,847,156 (GRCm39)	T306K	probably benign	Het
Ghitm	A	T	14: 36,847,174 (GRCm39)	I300N	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Iqcd	T	C	5: 120,738,332 (GRCm39)	I50T	probably damaging	Het
Itpripl1	G	A	2: 126,983,739 (GRCm39)	P128S	possibly damaging	Het
Klhdc4	A	T	8: 122,533,375 (GRCm39)		probably benign	Het
Klra5	A	G	6: 129,876,316 (GRCm39)	F164L	probably benign	Het
Larp1b	A	G	3: 40,931,658 (GRCm39)	Y288C	probably damaging	Het
Lrfn3	T	A	7: 30,055,078 (GRCm39)	E622D	possibly damaging	Het
Lyst	A	G	13: 13,831,439 (GRCm39)	D1621G	probably benign	Het
Mastl	T	C	2: 23,023,665 (GRCm39)	T353A	probably benign	Het
Mkln1	T	C	6: 31,473,647 (GRCm39)	Y130H	probably damaging	Het
Mms22l	T	A	4: 24,496,882 (GRCm39)		probably benign	Het
Mroh7	T	A	4: 106,548,840 (GRCm39)	M1008L	probably benign	Het
Nipal1	T	C	5: 72,825,243 (GRCm39)	V312A	probably damaging	Het
Nlrp5	T	A	7: 23,117,753 (GRCm39)	Y492*	probably null	Het
Odad1	T	A	7: 45,585,756 (GRCm39)	I105N	probably damaging	Het
Or1n1	T	C	2: 36,750,006 (GRCm39)	Y118C	probably damaging	Het
Otulinl	G	A	15: 27,660,031 (GRCm39)	Q24*	probably null	Het
Pcdhb11	T	A	18: 37,555,232 (GRCm39)	D187E	probably benign	Het
Pcdhb13	A	G	18: 37,576,561 (GRCm39)	Y313C	probably damaging	Het
Pdpn	G	A	4: 143,000,526 (GRCm39)	T102I	possibly damaging	Het
Pear1	A	T	3: 87,665,668 (GRCm39)	C120S	probably damaging	Het
Peg10	T	C	6: 4,756,128 (GRCm39)		probably benign	Het
Ppm1e	A	G	11: 87,128,007 (GRCm39)	W384R	probably benign	Het
Ppp1r10	C	T	17: 36,241,324 (GRCm39)	P700S	unknown	Het
Prl2c5	G	A	13: 13,357,627 (GRCm39)	R13K	probably benign	Het
Prmt3	C	A	7: 49,498,554 (GRCm39)	P487T	probably damaging	Het
Proser3	C	A	7: 30,245,573 (GRCm39)	A144S	possibly damaging	Het
Ptcd1	G	A	5: 145,088,241 (GRCm39)	T590I	probably damaging	Het
Rbsn	A	G	6: 92,170,958 (GRCm39)	V321A	probably damaging	Het
Slc40a1	C	A	1: 45,964,383 (GRCm39)	C14F	probably damaging	Het
Slc6a15	T	C	10: 103,229,369 (GRCm39)	I136T	probably damaging	Het
Slc7a4	A	G	16: 17,391,227 (GRCm39)	I449T	probably benign	Het
Snrnp48	T	A	13: 38,394,165 (GRCm39)		probably null	Het
Tada2a	A	G	11: 84,011,973 (GRCm39)	Y23H	probably benign	Het
Tbx15	A	T	3: 99,259,508 (GRCm39)	S460C	possibly damaging	Het
Tbx21	C	T	11: 96,992,304 (GRCm39)		probably null	Het
Tmcc2	T	G	1: 132,285,534 (GRCm39)	T376P	probably damaging	Het
Tmco4	G	A	4: 138,779,815 (GRCm39)	C420Y	probably damaging	Het
Tmem235	C	A	11: 117,755,020 (GRCm39)	Y157*	probably null	Het
Tmem63b	T	C	17: 45,975,653 (GRCm39)		probably benign	Het
Tnfrsf1a	T	C	6: 125,334,356 (GRCm39)	S92P	possibly damaging	Het
Top3b	A	T	16: 16,704,834 (GRCm39)	T397S	probably benign	Het
Trabd	C	A	15: 88,967,007 (GRCm39)		probably benign	Het
Trbv21	A	T	6: 41,179,764 (GRCm39)	I27L	possibly damaging	Het
Trim3	C	T	7: 105,268,276 (GRCm39)	V169M	probably damaging	Het
Ttn	T	C	2: 76,807,458 (GRCm39)	T92A	probably damaging	Het
Ttn	C	T	2: 76,738,860 (GRCm39)	S3893N	probably benign	Het
Uchl4	A	T	9: 64,142,821 (GRCm39)	I101F	possibly damaging	Het
Vmn1r5	T	A	6: 56,962,583 (GRCm39)	M86K	probably damaging	Het
Vmn2r55	T	A	7: 12,404,830 (GRCm39)	Q191L	possibly damaging	Het
Zfp458	A	T	13: 67,406,012 (GRCm39)	C139*	probably null	Het
Zfp788	T	C	7: 41,299,551 (GRCm39)	L729P	probably damaging	Het
Zmym2	T	A	14: 57,158,102 (GRCm39)	M547K	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
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
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'- TCCATTCCACCATGTAAGTGC -3'
(R):5'- AACAGGGGCTCGAACTCAAC -3'

Sequencing Primer
(F):5'- ACCATGTAAGTGCCTCCCCG -3'
(R):5'- TCGAACTCAACGGTGGC -3'

Posted On

2016-08-04