Mutagenetix > Incidental Mutation

Incidental Mutation 'R5082:Notch2'

387176

Institutional Source

Beutler Lab

Gene Symbol

Notch2

Ensembl Gene

ENSMUSG00000027878

Gene Name

notch 2

Synonyms

Motch B, N2

MMRRC Submission

042671-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97920854-98057683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98007690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 480 (C480Y)

Ref Sequence

ENSEMBL: ENSMUSP00000078741 (fasta)

Gene Model

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

AlphaFold

O35516

Predicted Effect

probably damaging
Transcript: ENSMUST00000079812
AA Change: C480Y

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

SMART Domains

Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: C480Y

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: ENSMUST00000198324

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,022,694 (GRCm39)	M1015L	probably benign	Het
Aftph	T	C	11: 20,677,100 (GRCm39)	S170G	probably damaging	Het
Aox4	C	T	1: 58,270,642 (GRCm39)	P274S	possibly damaging	Het
Ash1l	G	A	3: 88,873,541 (GRCm39)	R108Q	probably damaging	Het
Aspm	T	A	1: 139,406,414 (GRCm39)	L1767*	probably null	Het
Baz2b	T	A	2: 59,731,835 (GRCm39)	K2068*	probably null	Het
Bcl9	A	T	3: 97,117,218 (GRCm39)	V492D	probably damaging	Het
Bicc1	G	T	10: 70,776,352 (GRCm39)	H782Q	probably benign	Het
Cabin1	T	A	10: 75,574,164 (GRCm39)	I640F	probably damaging	Het
Ccng1	A	G	11: 40,643,015 (GRCm39)	V144A	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ddx1	G	T	12: 13,270,436 (GRCm39)	C668*	probably null	Het
Dhx58	G	A	11: 100,587,802 (GRCm39)	S585L	probably benign	Het
Dnttip2	A	T	3: 122,069,590 (GRCm39)	K268N	probably damaging	Het
Ecd	C	T	14: 20,374,436 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,713,473 (GRCm39)		probably null	Het
Erlin2	T	C	8: 27,523,435 (GRCm39)	V224A	probably damaging	Het
Exoc3l4	A	G	12: 111,394,424 (GRCm39)	S515G	probably benign	Het
Fcho1	T	C	8: 72,169,829 (GRCm39)	D98G	possibly damaging	Het
Fhod1	T	A	8: 106,057,145 (GRCm39)	D943V	probably damaging	Het
Gm10322	A	T	10: 59,452,090 (GRCm39)	E69V	possibly damaging	Het
Gm14295	T	A	2: 176,499,210 (GRCm39)	L19*	probably null	Het
Gm7347	T	A	5: 26,262,372 (GRCm39)	R50*	probably null	Het
Hesx1	T	C	14: 26,722,731 (GRCm39)	C19R	probably benign	Het
Hgh1	T	A	15: 76,253,752 (GRCm39)	F199L	probably benign	Het
Irak2	T	C	6: 113,649,805 (GRCm39)	F147L	probably damaging	Het
Kif22	G	A	7: 126,632,549 (GRCm39)	R254C	possibly damaging	Het
Klhl9	A	T	4: 88,639,622 (GRCm39)	S206R	probably damaging	Het
Maip1	T	C	1: 57,451,010 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,414,156 (GRCm39)	E308V	possibly damaging	Het
Mfsd13b	A	T	7: 120,598,201 (GRCm39)	N369I	possibly damaging	Het
Mga	T	A	2: 119,733,825 (GRCm39)	H224Q	probably damaging	Het
Mtss1	A	T	15: 58,842,868 (GRCm39)	W115R	probably damaging	Het
Myo3b	T	C	2: 70,088,374 (GRCm39)	V851A	probably benign	Het
Nectin2	A	T	7: 19,472,049 (GRCm39)	D113E	probably damaging	Het
Or6b6	G	A	7: 106,570,871 (GRCm39)	R227C	probably benign	Het
Or8b55	T	C	9: 38,727,441 (GRCm39)	I214T	possibly damaging	Het
Pfdn1	G	T	18: 36,537,466 (GRCm39)	N111K	probably damaging	Het
Pfkl	A	T	10: 77,832,242 (GRCm39)	V283E	probably damaging	Het
Plbd2	G	T	5: 120,629,249 (GRCm39)	S305*	probably null	Het
Prom1	T	C	5: 44,158,174 (GRCm39)		probably null	Het
Ptbp2	T	A	3: 119,546,613 (GRCm39)	M90L	probably benign	Het
Rai1	G	A	11: 60,076,745 (GRCm39)	E270K	possibly damaging	Het
Rbbp6	G	A	7: 122,599,925 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,101,075 (GRCm39)	M3399V	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sh2d2a	A	G	3: 87,759,091 (GRCm39)	D231G	probably benign	Het
Smn1	T	C	13: 100,273,890 (GRCm39)		probably benign	Het
Snrnp200	C	T	2: 127,068,290 (GRCm39)	Q877*	probably null	Het
Taf2	G	T	15: 54,923,441 (GRCm39)	H279N	probably benign	Het
Tnfaip3	T	C	10: 18,881,032 (GRCm39)	Y345C	probably damaging	Het
Vmn2r68	C	T	7: 84,883,076 (GRCm39)	M225I	probably benign	Het
Vps13a	A	T	19: 16,722,257 (GRCm39)	W352R	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AGCCAACAGTAACCCTTGTG -3'
(R):5'- TTCCCACTGTGTGAAGCTGG -3'

Sequencing Primer
(F):5'- TAACCCTTGTGAGCATGCAG -3'
(R):5'- AGGTGGAGCTCCTGTCTGAC -3'

Posted On

2016-06-06