Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Notch2'

93066

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Notch2

Ensembl Gene

ENSMUSG00000027878

Gene Name

notch 2

Synonyms

Motch B, N2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

97920854-98057683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98053376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2013 (T2013I)

Ref Sequence

ENSEMBL: ENSMUSP00000078741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079812]

AlphaFold

O35516

Predicted Effect

probably damaging
Transcript: ENSMUST00000079812
AA Change: T2013I

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

SMART Domains

Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: T2013I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF	27	63	5.79e-2	SMART
EGF	67	102	1.54e-6	SMART
EGF	108	143	6.25e-7	SMART
EGF	147	180	5.28e-5	SMART
EGF_CA	182	219	6.14e-15	SMART
EGF	224	258	5.08e-7	SMART
EGF_CA	260	296	1.95e-8	SMART
EGF_CA	298	336	3.91e-8	SMART
EGF_CA	338	374	7.69e-7	SMART
EGF	378	413	6.86e-4	SMART
EGF_CA	415	454	4.15e-12	SMART
EGF_CA	456	492	3.24e-14	SMART
EGF_CA	494	530	4.77e-12	SMART
EGF_CA	532	568	2.04e-11	SMART
EGF_CA	570	605	1.18e-7	SMART
EGF_CA	607	643	7.12e-11	SMART
EGF_CA	645	680	1.82e-8	SMART
EGF_CA	682	718	1.42e-10	SMART
EGF_CA	720	755	1.25e-6	SMART
EGF_CA	757	793	3.61e-12	SMART
EGF_CA	795	831	1.53e-10	SMART
EGF	836	871	1.34e-6	SMART
EGF_CA	873	909	6.05e-14	SMART
EGF_CA	911	947	9.54e-12	SMART
EGF_CA	949	985	1.39e-13	SMART
EGF_CA	987	1023	1.26e-11	SMART
EGF_CA	1025	1061	9.31e-15	SMART
EGF	1066	1099	1.39e-4	SMART
EGF	1104	1147	2.6e-4	SMART
EGF_CA	1149	1185	1.55e-11	SMART
EGF_CA	1187	1223	2.74e-12	SMART
EGF_CA	1225	1262	4.15e-12	SMART
EGF	1267	1302	1.43e-1	SMART
EGF	1307	1343	2.33e-6	SMART
EGF	1377	1412	9.85e-5	SMART
NL	1418	1456	8.55e-19	SMART
NL	1459	1497	2.27e-14	SMART
NL	1498	1535	1.16e-11	SMART
NOD	1539	1595	3.4e-28	SMART
NODP	1619	1679	1.66e-22	SMART
transmembrane domain	1680	1702	N/A	INTRINSIC
ANK	1828	1872	2.18e2	SMART
ANK	1877	1906	3.36e-2	SMART
ANK	1910	1940	1.81e2	SMART
ANK	1944	1973	6.61e-1	SMART
ANK	1977	2006	5.24e-4	SMART
ANK	2010	2039	3.41e-3	SMART
low complexity region	2179	2193	N/A	INTRINSIC
low complexity region	2232	2241	N/A	INTRINSIC
DUF3454	2382	2447	4.62e-30	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in embryonic or neonatal lethality. [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
Actn4	A	T	7: 28,604,109 (GRCm39)	I384N	probably damaging	Het
Adsl	G	T	15: 80,832,901 (GRCm39)	Q51H	probably null	Het
Apcdd1	A	G	18: 63,070,357 (GRCm39)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,394,580 (GRCm39)	R155*	probably null	Het
Atp9b	T	C	18: 80,799,670 (GRCm39)	E823G	probably benign	Het
Bmp1	A	G	14: 70,729,901 (GRCm39)	W468R	probably damaging	Het
C6	A	G	15: 4,789,399 (GRCm39)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,824,078 (GRCm39)	T1392A	probably benign	Het
Dhx34	G	T	7: 15,939,398 (GRCm39)	S665Y	probably damaging	Het
Dock1	A	T	7: 134,739,542 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,244,625 (GRCm39)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,696,412 (GRCm39)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,252,254 (GRCm39)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm39)	V150A	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Gabrg1	T	A	5: 70,934,548 (GRCm39)	T277S	probably damaging	Het
Galntl5	T	C	5: 25,394,823 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,304,073 (GRCm39)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,286,917 (GRCm39)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,520,224 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,906 (GRCm39)		noncoding transcript	Het
Gstm3	T	C	3: 107,874,949 (GRCm39)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,413,856 (GRCm39)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,231,353 (GRCm39)		probably benign	Het
Ighv7-1	T	A	12: 113,860,123 (GRCm39)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,346,409 (GRCm39)	L1009P	probably damaging	Het
Kif1a	A	G	1: 92,967,575 (GRCm39)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,081,237 (GRCm39)	D232E	possibly damaging	Het
Klb	G	A	5: 65,533,022 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,051,489 (GRCm39)	A421V	probably benign	Het
Mdga1	G	A	17: 30,058,845 (GRCm39)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,199,739 (GRCm39)		probably benign	Het
Myo18b	T	A	5: 112,988,495 (GRCm39)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,437,946 (GRCm39)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,440,204 (GRCm39)	L594I	probably damaging	Het
Or2ah1	A	T	2: 85,653,332 (GRCm39)	T6S	probably benign	Het
Or2y3	G	A	17: 38,392,994 (GRCm39)	L292F	possibly damaging	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c216	A	G	10: 129,678,479 (GRCm39)	L144P	probably benign	Het
Or7g27	T	C	9: 19,250,260 (GRCm39)	F168S	probably damaging	Het
Panx3	T	C	9: 37,575,352 (GRCm39)	D170G	probably damaging	Het
Pclo	A	G	5: 14,590,048 (GRCm39)	S783G	unknown	Het
Pde3b	T	A	7: 114,126,136 (GRCm39)	L790*	probably null	Het
Pik3r2	T	C	8: 71,224,992 (GRCm39)		probably benign	Het
Rassf4	A	G	6: 116,618,651 (GRCm39)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,833,066 (GRCm39)	P666S	probably benign	Het
Rnf123	A	G	9: 107,935,437 (GRCm39)	F979L	probably damaging	Het
Rock2	T	A	12: 17,015,172 (GRCm39)	D788E	probably benign	Het
Serpina3b	A	G	12: 104,099,216 (GRCm39)	T244A	probably benign	Het
Setd1b	T	C	5: 123,286,576 (GRCm39)	S541P	unknown	Het
Slc12a4	T	C	8: 106,687,339 (GRCm39)	D60G	possibly damaging	Het
Stac2	T	C	11: 97,932,180 (GRCm39)	E241G	probably benign	Het
Tafa3	C	T	3: 104,680,395 (GRCm39)	V75M	probably damaging	Het
Tas2r115	A	G	6: 132,714,592 (GRCm39)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,205,946 (GRCm39)	F450I	probably benign	Het
Txnl1	A	T	18: 63,807,262 (GRCm39)	I198N	probably damaging	Het
Ubr2	A	T	17: 47,267,580 (GRCm39)	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,287,759 (GRCm39)	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066 (GRCm39)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,973,213 (GRCm39)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,402,373 (GRCm39)	T203S	probably damaging	Het
Vwf	T	A	6: 125,622,699 (GRCm39)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,732 (GRCm39)	H676R	probably benign	Het

Other mutations in Notch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Notch2	APN	3	98,018,991 (GRCm39)	missense	possibly damaging	0.77
IGL01517:Notch2	APN	3	98,045,971 (GRCm39)	missense	probably benign	0.16
IGL01630:Notch2	APN	3	98,053,934 (GRCm39)	missense	possibly damaging	0.77
IGL01828:Notch2	APN	3	97,979,929 (GRCm39)	missense	probably damaging	1.00
IGL01998:Notch2	APN	3	98,050,422 (GRCm39)	missense	probably damaging	1.00
IGL02008:Notch2	APN	3	98,054,612 (GRCm39)	missense	probably damaging	1.00
IGL02030:Notch2	APN	3	98,006,737 (GRCm39)	splice site	probably null
IGL02155:Notch2	APN	3	98,045,806 (GRCm39)	missense	probably damaging	0.98
IGL02268:Notch2	APN	3	98,044,713 (GRCm39)	missense	probably damaging	1.00
IGL02301:Notch2	APN	3	98,048,870 (GRCm39)	missense	probably benign	0.08
IGL02336:Notch2	APN	3	98,045,711 (GRCm39)	missense	possibly damaging	0.73
IGL02340:Notch2	APN	3	98,054,652 (GRCm39)	nonsense	probably null
IGL02536:Notch2	APN	3	98,009,723 (GRCm39)	missense	probably benign	0.03
IGL02589:Notch2	APN	3	98,011,663 (GRCm39)	critical splice acceptor site	probably null
IGL02633:Notch2	APN	3	98,024,013 (GRCm39)	splice site	probably benign
IGL02691:Notch2	APN	3	98,042,923 (GRCm39)	nonsense	probably null
IGL02832:Notch2	APN	3	98,044,689 (GRCm39)	missense	probably benign	0.12
IGL02894:Notch2	APN	3	98,009,748 (GRCm39)	nonsense	probably null
IGL02902:Notch2	APN	3	98,018,890 (GRCm39)	missense	probably damaging	1.00
IGL02967:Notch2	APN	3	98,053,460 (GRCm39)	missense	probably damaging	0.99
IGL03015:Notch2	APN	3	97,979,965 (GRCm39)	missense	possibly damaging	0.83
PIT4378001:Notch2	UTSW	3	98,050,272 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Notch2	UTSW	3	98,005,424 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Notch2	UTSW	3	98,011,778 (GRCm39)	missense	probably damaging	1.00
R0111:Notch2	UTSW	3	98,046,077 (GRCm39)	missense	probably benign	0.00
R0129:Notch2	UTSW	3	98,053,936 (GRCm39)	missense	probably benign	0.08
R0143:Notch2	UTSW	3	98,053,433 (GRCm39)	missense	probably damaging	0.99
R0480:Notch2	UTSW	3	98,053,853 (GRCm39)	missense	possibly damaging	0.88
R0523:Notch2	UTSW	3	98,018,914 (GRCm39)	missense	probably benign	0.00
R0523:Notch2	UTSW	3	97,978,286 (GRCm39)	missense	probably benign	0.34
R0531:Notch2	UTSW	3	98,009,767 (GRCm39)	splice site	probably benign
R0537:Notch2	UTSW	3	98,024,057 (GRCm39)	missense	possibly damaging	0.70
R0987:Notch2	UTSW	3	98,041,993 (GRCm39)	splice site	probably null
R1485:Notch2	UTSW	3	98,007,573 (GRCm39)	missense	probably benign	0.00
R1555:Notch2	UTSW	3	98,038,656 (GRCm39)	missense	possibly damaging	0.93
R1625:Notch2	UTSW	3	98,018,891 (GRCm39)	missense	probably damaging	1.00
R1699:Notch2	UTSW	3	98,052,443 (GRCm39)	missense	probably damaging	1.00
R1765:Notch2	UTSW	3	98,029,242 (GRCm39)	missense	probably damaging	1.00
R1794:Notch2	UTSW	3	98,006,863 (GRCm39)	missense	possibly damaging	0.53
R1974:Notch2	UTSW	3	97,980,071 (GRCm39)	missense	probably damaging	1.00
R2086:Notch2	UTSW	3	98,009,683 (GRCm39)	missense	probably damaging	1.00
R2099:Notch2	UTSW	3	98,022,637 (GRCm39)	missense	possibly damaging	0.79
R3778:Notch2	UTSW	3	98,053,939 (GRCm39)	missense	probably damaging	1.00
R3924:Notch2	UTSW	3	98,029,350 (GRCm39)	nonsense	probably null
R4018:Notch2	UTSW	3	98,011,881 (GRCm39)	missense	probably damaging	1.00
R4151:Notch2	UTSW	3	98,054,387 (GRCm39)	missense	possibly damaging	0.95
R4417:Notch2	UTSW	3	98,038,586 (GRCm39)	missense	possibly damaging	0.95
R4510:Notch2	UTSW	3	98,053,637 (GRCm39)	missense	probably benign	0.02
R4511:Notch2	UTSW	3	98,053,637 (GRCm39)	missense	probably benign	0.02
R4636:Notch2	UTSW	3	98,053,420 (GRCm39)	missense	probably benign	0.02
R4661:Notch2	UTSW	3	98,042,829 (GRCm39)	missense	probably damaging	1.00
R4856:Notch2	UTSW	3	98,009,735 (GRCm39)	missense	probably damaging	1.00
R4886:Notch2	UTSW	3	98,009,735 (GRCm39)	missense	probably damaging	1.00
R4945:Notch2	UTSW	3	98,019,037 (GRCm39)	missense	probably benign	0.01
R4970:Notch2	UTSW	3	98,008,952 (GRCm39)	critical splice donor site	probably null
R4974:Notch2	UTSW	3	98,046,949 (GRCm39)	missense	probably benign	0.39
R5082:Notch2	UTSW	3	98,007,690 (GRCm39)	missense	probably damaging	1.00
R5112:Notch2	UTSW	3	98,008,952 (GRCm39)	critical splice donor site	probably null
R5156:Notch2	UTSW	3	98,031,626 (GRCm39)	missense	possibly damaging	0.53
R5433:Notch2	UTSW	3	98,033,450 (GRCm39)	missense	probably damaging	1.00
R5539:Notch2	UTSW	3	98,044,898 (GRCm39)	missense	probably damaging	0.99
R5813:Notch2	UTSW	3	98,042,744 (GRCm39)	missense	probably benign
R5827:Notch2	UTSW	3	97,980,178 (GRCm39)	missense	possibly damaging	0.64
R5908:Notch2	UTSW	3	98,031,239 (GRCm39)	intron	probably benign
R6021:Notch2	UTSW	3	98,029,288 (GRCm39)	missense	probably damaging	1.00
R6090:Notch2	UTSW	3	98,042,693 (GRCm39)	nonsense	probably null
R6103:Notch2	UTSW	3	98,043,059 (GRCm39)	missense	possibly damaging	0.94
R6111:Notch2	UTSW	3	98,053,609 (GRCm39)	missense	probably benign	0.00
R6168:Notch2	UTSW	3	98,052,533 (GRCm39)	missense	probably damaging	1.00
R6382:Notch2	UTSW	3	98,048,859 (GRCm39)	missense	probably damaging	1.00
R6404:Notch2	UTSW	3	97,989,314 (GRCm39)	missense	probably damaging	1.00
R6419:Notch2	UTSW	3	98,007,705 (GRCm39)	critical splice donor site	probably null
R6454:Notch2	UTSW	3	98,044,722 (GRCm39)	missense	possibly damaging	0.47
R6626:Notch2	UTSW	3	98,008,921 (GRCm39)	missense	probably damaging	1.00
R6629:Notch2	UTSW	3	98,028,197 (GRCm39)	missense	possibly damaging	0.65
R6706:Notch2	UTSW	3	98,045,746 (GRCm39)	missense	possibly damaging	0.94
R6735:Notch2	UTSW	3	98,041,902 (GRCm39)	missense	probably damaging	1.00
R6837:Notch2	UTSW	3	97,978,170 (GRCm39)	splice site	probably null
R7021:Notch2	UTSW	3	98,042,762 (GRCm39)	missense	probably benign
R7028:Notch2	UTSW	3	98,009,703 (GRCm39)	missense	probably damaging	1.00
R7228:Notch2	UTSW	3	98,044,633 (GRCm39)	nonsense	probably null
R7320:Notch2	UTSW	3	98,038,643 (GRCm39)	missense	possibly damaging	0.94
R7361:Notch2	UTSW	3	98,038,718 (GRCm39)	missense	probably benign	0.04
R7562:Notch2	UTSW	3	98,020,430 (GRCm39)	missense	probably damaging	1.00
R7630:Notch2	UTSW	3	98,044,824 (GRCm39)	missense	possibly damaging	0.65
R7637:Notch2	UTSW	3	98,053,939 (GRCm39)	missense	probably damaging	1.00
R7748:Notch2	UTSW	3	98,045,800 (GRCm39)	missense	possibly damaging	0.69
R7764:Notch2	UTSW	3	98,050,304 (GRCm39)	missense	probably damaging	1.00
R7817:Notch2	UTSW	3	98,014,443 (GRCm39)	missense	probably damaging	1.00
R7952:Notch2	UTSW	3	98,007,552 (GRCm39)	missense	probably benign	0.30
R8136:Notch2	UTSW	3	98,031,537 (GRCm39)	missense	probably damaging	1.00
R8159:Notch2	UTSW	3	98,028,238 (GRCm39)	missense	possibly damaging	0.95
R8679:Notch2	UTSW	3	98,029,218 (GRCm39)	critical splice acceptor site	probably null
R8879:Notch2	UTSW	3	98,042,915 (GRCm39)	missense	possibly damaging	0.73
R9146:Notch2	UTSW	3	98,011,854 (GRCm39)	missense	probably damaging	1.00
R9398:Notch2	UTSW	3	98,009,668 (GRCm39)	missense	probably damaging	1.00
R9422:Notch2	UTSW	3	98,054,668 (GRCm39)	missense	probably damaging	1.00
R9594:Notch2	UTSW	3	98,041,889 (GRCm39)	missense	possibly damaging	0.63

Posted On

2013-12-09