Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Notch2'

460767

Institutional Source

Beutler Lab

Gene Symbol

Notch2

Ensembl Gene

ENSMUSG00000027878

Gene Name

notch 2

Synonyms

Motch B, N2

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5908 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

97920854-98057683 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 98031239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078741 (fasta)

Gene Model

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

AlphaFold

O35516

Predicted Effect

probably benign
Transcript: ENSMUST00000079812

SMART Domains

Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200084

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,624,730 (GRCm39)	L198H	probably damaging	Het
Anks1	C	T	17: 28,214,993 (GRCm39)	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,503,165 (GRCm39)	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,132,297 (GRCm39)		noncoding transcript	Het
B9d2	T	A	7: 25,382,724 (GRCm39)	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,159,572 (GRCm39)	T117A	probably benign	Het
Btbd8	T	G	5: 107,655,460 (GRCm39)	D574E	probably damaging	Het
Cabin1	A	G	10: 75,557,366 (GRCm39)	S1091P	probably damaging	Het
Clip3	C	A	7: 29,996,298 (GRCm39)	D64E	probably damaging	Het
Col6a5	C	G	9: 105,740,000 (GRCm39)	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,785,136 (GRCm39)	M178L	probably benign	Het
Crtc3	T	A	7: 80,245,542 (GRCm39)	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,049,065 (GRCm39)	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,926,817 (GRCm39)	V189D	probably damaging	Het
Etl4	C	T	2: 20,748,718 (GRCm39)	A483V	probably damaging	Het
Foxo3	T	C	10: 42,072,583 (GRCm39)	I645V	probably benign	Het
Gm4841	A	G	18: 60,403,506 (GRCm39)	S196P	possibly damaging	Het
Hip1	A	G	5: 135,453,717 (GRCm39)		probably null	Het
Il36rn	G	T	2: 24,167,502 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,106,371 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,124,523 (GRCm39)	D259G	probably benign	Het
Lyst	T	A	13: 13,871,346 (GRCm39)	Y2694*	probably null	Het
Map4k2	T	C	19: 6,401,346 (GRCm39)		probably benign	Het
Marchf10	C	T	11: 105,281,065 (GRCm39)	V407I	probably benign	Het
Mast4	C	A	13: 102,874,764 (GRCm39)	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,293,366 (GRCm39)	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,039,392 (GRCm39)	F801S	probably damaging	Het
Nhsl3	A	G	4: 129,115,941 (GRCm39)	S908P	probably damaging	Het
Nr2e1	T	C	10: 42,448,765 (GRCm39)	S158G	probably benign	Het
Nup214	A	G	2: 31,881,353 (GRCm39)	I404V	probably benign	Het
Or13n4	T	C	7: 106,423,404 (GRCm39)	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pik3r3	A	T	4: 116,129,955 (GRCm39)	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,374,501 (GRCm39)	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,846,621 (GRCm39)	Q44*	probably null	Het
Pnma8b	C	T	7: 16,680,968 (GRCm39)	R651C	unknown	Het
Pnpt1	T	A	11: 29,080,887 (GRCm39)	S44T	probably benign	Het
Polb	A	T	8: 23,132,319 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,165,984 (GRCm39)	N85S	probably damaging	Het
Prim1	A	G	10: 127,853,893 (GRCm39)	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,758,040 (GRCm39)	Y223F	probably benign	Het
Rbak	T	G	5: 143,159,391 (GRCm39)	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,117,970 (GRCm39)	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,073,605 (GRCm39)	S818A	probably damaging	Het
Sh3rf3	C	G	10: 58,885,270 (GRCm39)	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,293,090 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,103,678 (GRCm39)	E1181G	probably benign	Het
Taf2	G	A	15: 54,935,402 (GRCm39)		probably benign	Het
Taf7l2	A	T	10: 115,949,133 (GRCm39)	I131N	probably benign	Het
Tbc1d9	A	T	8: 83,976,174 (GRCm39)	M578L	probably benign	Het
Tinagl1	G	T	4: 130,066,763 (GRCm39)	Y111*	probably null	Het
Tor2a	T	C	2: 32,651,697 (GRCm39)	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,067,304 (GRCm39)	V474A	probably benign	Het
Trrap	C	A	5: 144,723,518 (GRCm39)	A325E	probably damaging	Het
Ube4a	A	G	9: 44,859,322 (GRCm39)		probably null	Het
Use1	G	C	8: 71,822,257 (GRCm39)	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,973,563 (GRCm39)	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,156,449 (GRCm39)	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,739,374 (GRCm39)	K964E	probably benign	Het
Zfp974	T	A	7: 27,610,382 (GRCm39)	M448L	probably benign	Het
Zfyve28	A	T	5: 34,374,214 (GRCm39)	V600E	possibly damaging	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
IGL01637:Notch2	APN	3	98,053,376 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGGGTTTTGATGCATGTACAC -3'
(R):5'- GGCAGGTTCAACCCAAAAGC -3'

Sequencing Primer
(F):5'- TCAGACCCTGGTGAACCTCTG -3'
(R):5'- GGTTCAACCCAAAAGCAAGTG -3'

Posted On

2017-02-28