Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Notch3'

425495

Institutional Source

Beutler Lab

Gene Symbol

Notch3

Ensembl Gene

ENSMUSG00000038146

Gene Name

notch 3

Synonyms

hpbk, N3

MMRRC Submission

042961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32339794-32385826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32358163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1687 (I1687L)

Ref Sequence

ENSEMBL: ENSMUSP00000085016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087723]

AlphaFold

Q61982

Predicted Effect

probably benign
Transcript: ENSMUST00000087723
AA Change: I1687L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: I1687L

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
EGF	42	78	3.73e-5	SMART
EGF	82	119	1.78e-2	SMART
EGF	123	157	1.13e-4	SMART
EGF_CA	159	196	1.89e-15	SMART
EGF	201	235	3.85e-7	SMART
EGF_CA	237	273	3.97e-9	SMART
EGF_CA	275	313	4.63e-10	SMART
EGF_CA	315	351	1.05e-8	SMART
EGF	355	390	1.28e-3	SMART
EGF_CA	392	430	6.29e-12	SMART
EGF_CA	432	468	1.11e-12	SMART
EGF_CA	470	506	4.21e-13	SMART
EGF_CA	508	544	8.43e-13	SMART
EGF_CA	546	581	9.54e-12	SMART
EGF_CA	583	619	1.31e-9	SMART
EGF_CA	621	656	2.03e-6	SMART
EGF_CA	658	694	2.28e-9	SMART
EGF	699	731	7.18e-7	SMART
EGF	738	771	2.5e-6	SMART
EGF	775	809	8e-5	SMART
EGF_CA	811	848	4.77e-12	SMART
EGF_CA	850	886	3.81e-11	SMART
EGF_CA	888	923	1.47e-12	SMART
EGF_CA	925	961	3.4e-8	SMART
EGF	966	999	5.74e-6	SMART
EGF	1004	1035	7.18e-7	SMART
EGF	1040	1083	1.21e-4	SMART
EGF_CA	1085	1121	1.29e-8	SMART
EGF_CA	1123	1159	1.45e-11	SMART
EGF_CA	1161	1204	1.26e-11	SMART
EGF	1209	1245	1.53e-1	SMART
EGF	1250	1288	8e-5	SMART
EGF	1293	1326	1.13e1	SMART
EGF	1339	1374	5.36e-6	SMART
NL	1381	1419	1.63e-15	SMART
NL	1422	1460	1.78e-16	SMART
NL	1461	1502	1.75e-15	SMART
NOD	1506	1562	2.98e-24	SMART
NODP	1577	1641	1.34e-26	SMART
transmembrane domain	1644	1666	N/A	INTRINSIC
low complexity region	1774	1783	N/A	INTRINSIC
ANK	1789	1834	1.48e3	SMART
ANK	1839	1868	1.61e-4	SMART
ANK	1872	1902	1.42e0	SMART
ANK	1906	1935	1.77e-1	SMART
ANK	1939	1968	3.18e-3	SMART
ANK	1972	2001	5.16e-3	SMART
low complexity region	2028	2054	N/A	INTRINSIC
low complexity region	2108	2123	N/A	INTRINSIC
low complexity region	2169	2193	N/A	INTRINSIC
DUF3454	2218	2275	2.81e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180839

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
PHENOTYPE: Some, but not all, null alleles cause defects in artery morphology and in T cell development. Progressive emaciation and kyphosis with paraphimosis occurs in an intron 31 splice donor site point mutant. In conjunction with Notch1 deficiency, abnormalities in embryonic development have been observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795 (GRCm39)	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,644,559 (GRCm39)	V148E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,485,536 (GRCm39)	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900 (GRCm39)		probably benign	Het
Arrb2	T	C	11: 70,329,484 (GRCm39)	S265P	probably damaging	Het
Baiap2	T	C	11: 119,887,496 (GRCm39)	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,103 (GRCm39)	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907 (GRCm39)	V96F	probably damaging	Het
Cenpe	T	C	3: 134,965,149 (GRCm39)		probably null	Het
Crocc2	C	A	1: 93,143,363 (GRCm39)	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,289,546 (GRCm39)	C61*	probably null	Het
Dazl	T	C	17: 50,595,718 (GRCm39)	I56V	probably benign	Het
Dnah12	A	T	14: 26,456,904 (GRCm39)	D890V	probably damaging	Het
Dnah9	C	A	11: 65,986,140 (GRCm39)	E1165*	probably null	Het
Dnmt3l	T	A	10: 77,892,665 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,739,960 (GRCm39)	N62S	possibly damaging	Het
Entr1	T	C	2: 26,275,559 (GRCm39)	D244G	probably damaging	Het
Fam216b	T	A	14: 78,322,503 (GRCm39)	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,481,954 (GRCm39)	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gvin3	T	C	7: 106,197,442 (GRCm39)		noncoding transcript	Het
Igf2r	T	C	17: 12,944,303 (GRCm39)	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,512,413 (GRCm39)	F20L	probably benign	Het
Klhl5	T	A	5: 65,298,625 (GRCm39)	L135M	possibly damaging	Het
Klk1b16	A	T	7: 43,790,412 (GRCm39)	M196L	possibly damaging	Het
Ltf	T	C	9: 110,858,719 (GRCm39)	M489T	possibly damaging	Het
Mctp2	G	T	7: 71,863,835 (GRCm39)	R343S	possibly damaging	Het
Nbas	T	A	12: 13,584,578 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,343,932 (GRCm39)	M177L	probably benign	Het
Net1	C	T	13: 3,936,170 (GRCm39)	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000 (GRCm39)	F375L	probably damaging	Het
Obsl1	A	T	1: 75,479,905 (GRCm39)		probably benign	Het
Or2ag16	A	T	7: 106,352,290 (GRCm39)	F102I	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Or51v14	G	T	7: 103,260,797 (GRCm39)	Y254*	probably null	Het
Or5g23	A	G	2: 85,438,627 (GRCm39)	F209S	probably benign	Het
Or5j3	G	A	2: 86,128,561 (GRCm39)	V134M	possibly damaging	Het
Or5p79	A	C	7: 108,221,924 (GRCm39)	I302L	probably damaging	Het
Orai1	A	T	5: 123,167,564 (GRCm39)	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,899,785 (GRCm39)	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,654,998 (GRCm39)	T199K	probably damaging	Het
Prkd1	T	A	12: 50,389,920 (GRCm39)	I819F	probably damaging	Het
Ptpn9	T	C	9: 56,964,121 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,478,666 (GRCm39)	E255G	probably damaging	Het
Sema3e	T	C	5: 14,286,099 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,115,699 (GRCm39)	M282V	possibly damaging	Het
Slco1a7	A	G	6: 141,686,193 (GRCm39)	F216L	probably benign	Het
Slco2b1	A	G	7: 99,335,132 (GRCm39)	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,916,309 (GRCm39)		noncoding transcript	Het
Slco6d1	A	T	1: 98,371,369 (GRCm39)	I285F	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sp9	C	A	2: 73,104,641 (GRCm39)	N398K	probably damaging	Het
Sycp2	A	C	2: 178,019,495 (GRCm39)		probably null	Het
Tbc1d23	T	C	16: 57,019,291 (GRCm39)	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,734,179 (GRCm39)	R285G	probably benign	Het
Trim2	T	A	3: 84,074,960 (GRCm39)	Q694L	probably null	Het
Trim23	T	A	13: 104,328,541 (GRCm39)	V293D	probably damaging	Het
Ttn	A	G	2: 76,665,183 (GRCm39)		probably benign	Het
Vmn2r12	T	A	5: 109,238,261 (GRCm39)	Y493F	probably benign	Het
Vps41	T	A	13: 19,046,708 (GRCm39)	I753N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Yme1l1	G	A	2: 23,083,246 (GRCm39)	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,541,149 (GRCm39)	C198S	probably damaging	Het

Other mutations in Notch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Notch3	APN	17	32,377,088 (GRCm39)	nonsense	probably null
IGL01065:Notch3	APN	17	32,365,390 (GRCm39)	nonsense	probably null
IGL01296:Notch3	APN	17	32,385,731 (GRCm39)	missense	unknown
IGL01322:Notch3	APN	17	32,363,445 (GRCm39)	missense	probably damaging	1.00
IGL01343:Notch3	APN	17	32,362,410 (GRCm39)	missense	probably benign	0.10
IGL01358:Notch3	APN	17	32,363,721 (GRCm39)	missense	probably damaging	1.00
IGL01600:Notch3	APN	17	32,363,472 (GRCm39)	missense	probably damaging	1.00
IGL01622:Notch3	APN	17	32,377,844 (GRCm39)	missense	possibly damaging	0.50
IGL01623:Notch3	APN	17	32,377,844 (GRCm39)	missense	possibly damaging	0.50
IGL01971:Notch3	APN	17	32,343,321 (GRCm39)	missense	probably damaging	1.00
IGL02000:Notch3	APN	17	32,341,716 (GRCm39)	missense	probably damaging	0.99
IGL02072:Notch3	APN	17	32,366,048 (GRCm39)	nonsense	probably null
IGL02145:Notch3	APN	17	32,373,715 (GRCm39)	missense	probably benign	0.01
IGL02256:Notch3	APN	17	32,351,298 (GRCm39)	missense	probably damaging	1.00
IGL02366:Notch3	APN	17	32,363,179 (GRCm39)	missense	probably benign
IGL02476:Notch3	APN	17	32,377,612 (GRCm39)	missense	possibly damaging	0.67
IGL02502:Notch3	APN	17	32,377,252 (GRCm39)	nonsense	probably null
IGL02551:Notch3	APN	17	32,373,705 (GRCm39)	splice site	probably benign
divide	UTSW	17	32,356,787 (GRCm39)	splice site	probably null
impressed	UTSW	17	32,385,652 (GRCm39)	missense	probably benign
indented	UTSW	17	32,366,937 (GRCm39)	missense	probably benign	0.00
Lopressor	UTSW	17	32,372,858 (GRCm39)	missense	probably damaging	1.00
marginal	UTSW	17	32,383,198 (GRCm39)	missense	probably benign
PIT4486001:Notch3	UTSW	17	32,373,737 (GRCm39)	missense	probably damaging	1.00
R0115:Notch3	UTSW	17	32,352,436 (GRCm39)	missense	possibly damaging	0.82
R0201:Notch3	UTSW	17	32,375,122 (GRCm39)	splice site	probably benign
R0630:Notch3	UTSW	17	32,366,446 (GRCm39)	splice site	probably benign
R1167:Notch3	UTSW	17	32,341,719 (GRCm39)	missense	possibly damaging	0.95
R1432:Notch3	UTSW	17	32,383,198 (GRCm39)	missense	probably benign
R1567:Notch3	UTSW	17	32,377,554 (GRCm39)	missense	possibly damaging	0.77
R1623:Notch3	UTSW	17	32,358,165 (GRCm39)	missense	probably benign	0.00
R1663:Notch3	UTSW	17	32,375,093 (GRCm39)	missense	probably damaging	1.00
R1668:Notch3	UTSW	17	32,377,563 (GRCm39)	missense	probably damaging	0.99
R1789:Notch3	UTSW	17	32,377,699 (GRCm39)	missense	probably damaging	1.00
R1813:Notch3	UTSW	17	32,362,402 (GRCm39)	missense	probably benign	0.08
R1837:Notch3	UTSW	17	32,343,296 (GRCm39)	missense	probably damaging	1.00
R1896:Notch3	UTSW	17	32,362,402 (GRCm39)	missense	probably benign	0.08
R1937:Notch3	UTSW	17	32,372,826 (GRCm39)	missense	probably benign	0.03
R1954:Notch3	UTSW	17	32,385,652 (GRCm39)	missense	probably benign
R2014:Notch3	UTSW	17	32,376,974 (GRCm39)	missense	probably benign	0.00
R2058:Notch3	UTSW	17	32,362,618 (GRCm39)	missense	probably benign
R2068:Notch3	UTSW	17	32,354,482 (GRCm39)	missense	probably benign	0.00
R2097:Notch3	UTSW	17	32,341,728 (GRCm39)	missense	probably damaging	1.00
R2112:Notch3	UTSW	17	32,363,584 (GRCm39)	missense	probably benign	0.19
R2156:Notch3	UTSW	17	32,366,818 (GRCm39)	missense	probably damaging	1.00
R2211:Notch3	UTSW	17	32,366,952 (GRCm39)	missense	probably benign	0.00
R2324:Notch3	UTSW	17	32,369,108 (GRCm39)	splice site	probably benign
R2432:Notch3	UTSW	17	32,372,778 (GRCm39)	missense	probably damaging	1.00
R3117:Notch3	UTSW	17	32,377,089 (GRCm39)	missense	probably damaging	1.00
R3236:Notch3	UTSW	17	32,377,435 (GRCm39)	missense	probably damaging	0.96
R3409:Notch3	UTSW	17	32,369,676 (GRCm39)	missense	possibly damaging	0.67
R3434:Notch3	UTSW	17	32,377,592 (GRCm39)	missense	possibly damaging	0.80
R3435:Notch3	UTSW	17	32,377,592 (GRCm39)	missense	possibly damaging	0.80
R3438:Notch3	UTSW	17	32,372,564 (GRCm39)	missense	probably damaging	1.00
R3926:Notch3	UTSW	17	32,372,531 (GRCm39)	missense	possibly damaging	0.92
R4087:Notch3	UTSW	17	32,377,087 (GRCm39)	missense	possibly damaging	0.60
R4115:Notch3	UTSW	17	32,377,407 (GRCm39)	missense	probably damaging	1.00
R4214:Notch3	UTSW	17	32,351,181 (GRCm39)	missense	possibly damaging	0.96
R4234:Notch3	UTSW	17	32,360,315 (GRCm39)	missense	probably damaging	0.97
R4242:Notch3	UTSW	17	32,362,719 (GRCm39)	missense	possibly damaging	0.74
R4658:Notch3	UTSW	17	32,373,737 (GRCm39)	missense	probably damaging	1.00
R4878:Notch3	UTSW	17	32,366,059 (GRCm39)	missense	probably damaging	1.00
R4879:Notch3	UTSW	17	32,366,937 (GRCm39)	missense	probably benign	0.00
R4885:Notch3	UTSW	17	32,360,351 (GRCm39)	missense	probably damaging	0.98
R4924:Notch3	UTSW	17	32,363,705 (GRCm39)	missense	probably damaging	1.00
R5084:Notch3	UTSW	17	32,376,864 (GRCm39)	critical splice donor site	probably null
R5086:Notch3	UTSW	17	32,362,308 (GRCm39)	missense	probably benign	0.13
R5343:Notch3	UTSW	17	32,362,257 (GRCm39)	missense	probably benign	0.03
R5503:Notch3	UTSW	17	32,366,029 (GRCm39)	missense	probably benign	0.00
R5698:Notch3	UTSW	17	32,376,961 (GRCm39)	missense	probably damaging	1.00
R5824:Notch3	UTSW	17	32,372,835 (GRCm39)	missense	possibly damaging	0.92
R5969:Notch3	UTSW	17	32,372,858 (GRCm39)	missense	probably damaging	1.00
R6050:Notch3	UTSW	17	32,362,501 (GRCm39)	missense	probably benign
R6274:Notch3	UTSW	17	32,366,264 (GRCm39)	missense	probably benign
R6276:Notch3	UTSW	17	32,373,723 (GRCm39)	missense	probably benign	0.10
R6313:Notch3	UTSW	17	32,370,128 (GRCm39)	splice site	probably null
R6316:Notch3	UTSW	17	32,356,787 (GRCm39)	splice site	probably null
R6380:Notch3	UTSW	17	32,363,533 (GRCm39)	missense	probably damaging	1.00
R6401:Notch3	UTSW	17	32,377,597 (GRCm39)	missense	probably benign	0.01
R6502:Notch3	UTSW	17	32,377,191 (GRCm39)	missense	probably damaging	1.00
R6741:Notch3	UTSW	17	32,362,458 (GRCm39)	missense	probably benign	0.16
R7131:Notch3	UTSW	17	32,363,191 (GRCm39)	missense	probably benign
R7140:Notch3	UTSW	17	32,375,351 (GRCm39)	missense	possibly damaging	0.84
R7162:Notch3	UTSW	17	32,365,423 (GRCm39)	missense	probably damaging	0.98
R7171:Notch3	UTSW	17	32,377,936 (GRCm39)	missense	probably damaging	1.00
R7449:Notch3	UTSW	17	32,376,940 (GRCm39)	missense	probably damaging	1.00
R7450:Notch3	UTSW	17	32,360,365 (GRCm39)	missense	possibly damaging	0.69
R7554:Notch3	UTSW	17	32,341,345 (GRCm39)	missense	probably benign	0.03
R7575:Notch3	UTSW	17	32,373,793 (GRCm39)	missense	possibly damaging	0.81
R7632:Notch3	UTSW	17	32,377,480 (GRCm39)	missense	probably benign
R7633:Notch3	UTSW	17	32,377,596 (GRCm39)	missense	probably benign	0.17
R7860:Notch3	UTSW	17	32,341,747 (GRCm39)	missense	possibly damaging	0.67
R8052:Notch3	UTSW	17	32,365,545 (GRCm39)	missense	probably damaging	1.00
R8250:Notch3	UTSW	17	32,351,310 (GRCm39)	missense	probably damaging	1.00
R8296:Notch3	UTSW	17	32,341,713 (GRCm39)	missense	probably damaging	1.00
R8306:Notch3	UTSW	17	32,377,086 (GRCm39)	missense	probably damaging	0.99
R8458:Notch3	UTSW	17	32,375,024 (GRCm39)	missense	probably damaging	1.00
R8539:Notch3	UTSW	17	32,375,329 (GRCm39)	missense	possibly damaging	0.92
R8865:Notch3	UTSW	17	32,341,090 (GRCm39)	missense	probably benign	0.01
R8925:Notch3	UTSW	17	32,372,792 (GRCm39)	missense	probably benign	0.14
R8927:Notch3	UTSW	17	32,372,792 (GRCm39)	missense	probably benign	0.14
R9062:Notch3	UTSW	17	32,341,692 (GRCm39)	missense	possibly damaging	0.93
R9079:Notch3	UTSW	17	32,383,033 (GRCm39)	intron	probably benign
R9089:Notch3	UTSW	17	32,370,521 (GRCm39)	missense	probably benign	0.00
R9260:Notch3	UTSW	17	32,362,216 (GRCm39)	critical splice donor site	probably null
R9289:Notch3	UTSW	17	32,377,254 (GRCm39)	missense	probably damaging	1.00
R9294:Notch3	UTSW	17	32,362,665 (GRCm39)	missense	probably benign	0.03
R9661:Notch3	UTSW	17	32,373,792 (GRCm39)	missense	probably damaging	1.00
R9779:Notch3	UTSW	17	32,372,757 (GRCm39)	missense	probably damaging	1.00
T0975:Notch3	UTSW	17	32,365,391 (GRCm39)	missense	probably damaging	0.99
Z1088:Notch3	UTSW	17	32,377,626 (GRCm39)	missense	possibly damaging	0.94
Z1176:Notch3	UTSW	17	32,370,344 (GRCm39)	missense	probably damaging	1.00
Z1176:Notch3	UTSW	17	32,360,490 (GRCm39)	missense	probably benign	0.12
Z1177:Notch3	UTSW	17	32,385,668 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACACTGAAGGCCCAGATG -3'
(R):5'- CCTGATACTTGGCTGAAGGC -3'

Sequencing Primer
(F):5'- CACTGAAGGCCCAGATGGAGTC -3'
(R):5'- ATACTTGGCTGAAGGCTCATC -3'

Posted On

2016-08-04