Mutagenetix > Incidental Mutation

Incidental Mutation 'R9422:Notch2'

712366

Institutional Source

Beutler Lab

Gene Symbol

Notch2

Ensembl Gene

ENSMUSG00000027878

Gene Name

notch 2

Synonyms

Motch B, N2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97920854-98057683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98054668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 2444 (S2444G)

Ref Sequence

ENSEMBL: ENSMUSP00000078741 (fasta)

Gene Model

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

AlphaFold

O35516

Predicted Effect

probably damaging
Transcript: ENSMUST00000079812
AA Change: S2444G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: S2444G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (55/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,667,153 (GRCm39)	V209I		Het
Adamts18	T	A	8: 114,501,910 (GRCm39)	Y317F	probably damaging	Het
Adgrg6	C	T	10: 14,302,740 (GRCm39)	R863H	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ank2	C	A	3: 126,890,505 (GRCm39)	K55N	unknown	Het
B3galnt2	A	G	13: 14,150,136 (GRCm39)	T160A	probably benign	Het
Becn1	C	A	11: 101,192,832 (GRCm39)		probably benign	Het
Ccdc57	T	C	11: 120,764,444 (GRCm39)	N777S	possibly damaging	Het
Cd302	T	C	2: 60,082,697 (GRCm39)	Y209C	probably damaging	Het
Cfap69	A	G	5: 5,699,851 (GRCm39)	V63A	probably benign	Het
Clasp1	T	A	1: 118,390,257 (GRCm39)	I147N	possibly damaging	Het
Cmtm3	A	T	8: 105,067,358 (GRCm39)		probably benign	Het
Cmtm3	G	T	8: 105,067,359 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,293,364 (GRCm39)		probably null	Het
Csn3	A	G	5: 88,077,872 (GRCm39)	N126S	probably benign	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dctn1	T	A	6: 83,170,691 (GRCm39)	H729Q	possibly damaging	Het
Dop1a	C	T	9: 86,425,093 (GRCm39)	H2138Y	probably damaging	Het
Fbxo2	T	C	4: 148,248,616 (GRCm39)	L36P	unknown	Het
Gzmg	T	A	14: 56,395,812 (GRCm39)	Y49F	probably benign	Het
H2bc3	A	G	13: 23,930,940 (GRCm39)	I55V	possibly damaging	Het
Hivep1	A	G	13: 42,313,213 (GRCm39)	T1818A	probably benign	Het
Ipmk	T	C	10: 71,212,550 (GRCm39)	S171P	possibly damaging	Het
Milr1	T	A	11: 106,657,805 (GRCm39)	Y239N	probably damaging	Het
Muc16	T	C	9: 18,553,102 (GRCm39)	N4397S	probably benign	Het
Nell1	C	A	7: 49,712,387 (GRCm39)	S69*	probably null	Het
Nme8	A	G	13: 19,859,918 (GRCm39)	V234A	probably benign	Het
Odad3	T	A	9: 21,913,628 (GRCm39)	H48L	possibly damaging	Het
Or5p75-ps1	A	T	7: 108,108,155 (GRCm39)	K297N	unknown	Het
Or7g35	T	A	9: 19,495,968 (GRCm39)	I45K	probably damaging	Het
Pex5l	T	C	3: 33,136,401 (GRCm39)		probably benign	Het
Pgm3	A	T	9: 86,443,938 (GRCm39)	L322H	probably damaging	Het
Plxna2	T	A	1: 194,326,730 (GRCm39)	F221L	probably damaging	Het
Pramel22	T	A	4: 143,382,982 (GRCm39)	K79M	probably damaging	Het
Prkaa2	A	G	4: 104,909,195 (GRCm39)	I83T	probably benign	Het
R3hdml	A	G	2: 163,334,526 (GRCm39)	T39A	probably benign	Het
Ralgds	A	G	2: 28,435,184 (GRCm39)	M447V	probably benign	Het
Rgs2	T	C	1: 143,878,783 (GRCm39)	D40G	probably damaging	Het
Robo3	T	C	9: 37,329,789 (GRCm39)	M1176V	probably benign	Het
Rpap1	G	A	2: 119,613,519 (GRCm39)		probably benign	Het
Skic3	A	T	13: 76,278,447 (GRCm39)		probably benign	Het
Slc26a8	T	C	17: 28,857,560 (GRCm39)	D861G	possibly damaging	Het
Slc4a8	A	T	15: 100,698,469 (GRCm39)	I705F	probably benign	Het
Slco3a1	C	T	7: 73,946,996 (GRCm39)	V576I	probably damaging	Het
Socs7	A	G	11: 97,253,973 (GRCm39)	D169G	possibly damaging	Het
Tanc1	T	C	2: 59,637,933 (GRCm39)	V878A	probably benign	Het
Thop1	C	T	10: 80,916,001 (GRCm39)	R395W	probably damaging	Het
Tpp2	T	A	1: 44,017,897 (GRCm39)	H765Q	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r233	T	A	17: 21,214,069 (GRCm39)	M294L	possibly damaging	Het
Vmn1r27	T	C	6: 58,192,867 (GRCm39)	T46A	probably benign	Het
Vmn2r28	A	G	7: 5,483,747 (GRCm39)	S818P	probably damaging	Het
Vmn2r97	T	A	17: 19,149,333 (GRCm39)	N240K	probably benign	Het
Zfhx3	C	T	8: 109,430,850 (GRCm39)		probably benign	Het
Zfp667	A	G	7: 6,308,321 (GRCm39)	M330V	probably benign	Het
Zhx1	T	C	15: 57,916,071 (GRCm39)	Y725C	probably damaging	Het
Zhx3	C	T	2: 160,624,020 (GRCm39)	S49N	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
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
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
R9594:Notch2	UTSW	3	98,041,889 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- GCAGGTAGCTCAGACCATTG -3'
(R):5'- CTCCGGATAACCTTCACTCG -3'

Sequencing Primer
(F):5'- GTAGCTCAGACCATTGTGCCAAC -3'
(R):5'- GCCCCTCAGCAGTATGTGTGATAG -3'

Posted On

2022-05-16