Mutagenetix > Incidental Mutation

Incidental Mutation 'R1663:Notch3'

186968

Institutional Source

Beutler Lab

Gene Symbol

Notch3

Ensembl Gene

ENSMUSG00000038146

Gene Name

notch 3

Synonyms

hpbk, N3

MMRRC Submission

039699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32339794-32385826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32375093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 407 (G407D)

Ref Sequence

ENSEMBL: ENSMUSP00000085016 (fasta)

Gene Model

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

AlphaFold

Q61982

Predicted Effect

probably damaging
Transcript: ENSMUST00000087723
AA Change: G407D

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

SMART Domains

Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: G407D

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,177,949 (GRCm39)	T11S	probably benign	Het
Adgb	T	C	10: 10,215,419 (GRCm39)	M1529V	possibly damaging	Het
Ankrd36	T	A	11: 5,570,126 (GRCm39)	D531E	possibly damaging	Het
Ankzf1	C	T	1: 75,172,914 (GRCm39)	P337S	probably damaging	Het
Apc	A	G	18: 34,401,378 (GRCm39)	I55V	probably damaging	Het
Aplnr	A	G	2: 84,967,038 (GRCm39)	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,472,914 (GRCm39)	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,253,899 (GRCm39)	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,328,429 (GRCm39)	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,580,322 (GRCm39)	Q1082R	possibly damaging	Het
Atl2	A	G	17: 80,172,140 (GRCm39)	S28P	probably damaging	Het
Brd7	T	C	8: 89,084,651 (GRCm39)	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,480,744 (GRCm39)	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,363,956 (GRCm39)	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,620,277 (GRCm39)	M38K	probably damaging	Het
Cldn14	A	G	16: 93,716,166 (GRCm39)	S227P	probably damaging	Het
Clspn	T	A	4: 126,459,768 (GRCm39)	C332S	probably benign	Het
Col5a1	T	C	2: 27,841,488 (GRCm39)	S370P	unknown	Het
Comp	T	C	8: 70,826,250 (GRCm39)	L10P	possibly damaging	Het
Dcc	A	T	18: 71,959,123 (GRCm39)	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,618,340 (GRCm39)	Q250*	probably null	Het
Drd5	T	C	5: 38,478,198 (GRCm39)	F397S	probably benign	Het
Dst	T	C	1: 34,202,466 (GRCm39)	S265P	probably damaging	Het
Dync2i1	T	C	12: 116,193,230 (GRCm39)	Q574R	probably benign	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Eno3	T	C	11: 70,553,100 (GRCm39)		probably null	Het
Fam13a	G	A	6: 58,931,357 (GRCm39)	R408*	probably null	Het
Gipc2	T	A	3: 151,799,801 (GRCm39)	M310L	probably benign	Het
Gm14496	T	C	2: 181,639,230 (GRCm39)	V440A	probably benign	Het
Gzmg	A	T	14: 56,394,265 (GRCm39)	C210S	probably damaging	Het
Helb	G	T	10: 119,941,338 (GRCm39)	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439 (GRCm39)	I190N	possibly damaging	Het
Hk3	A	T	13: 55,154,388 (GRCm39)	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,312,852 (GRCm39)	S221P	probably damaging	Het
Ifna9	T	C	4: 88,510,220 (GRCm39)	T135A	probably benign	Het
Igfn1	C	T	1: 135,896,046 (GRCm39)	G1507R	probably benign	Het
Kank3	A	G	17: 34,037,349 (GRCm39)	T218A	probably benign	Het
Kcp	G	T	6: 29,498,964 (GRCm39)	R337S	possibly damaging	Het
Krt74	A	T	15: 101,665,109 (GRCm39)		noncoding transcript	Het
Lrp1	A	T	10: 127,392,790 (GRCm39)	D2758E	probably damaging	Het
Ly75	T	C	2: 60,144,578 (GRCm39)	E1295G	probably damaging	Het
Mccc1	C	A	3: 36,033,082 (GRCm39)	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,657 (GRCm39)	T198M	probably benign	Het
Mtmr2	C	T	9: 13,714,797 (GRCm39)	T519I	probably damaging	Het
Nbea	A	G	3: 55,553,407 (GRCm39)	S2632P	possibly damaging	Het
Nbn	T	A	4: 15,970,903 (GRCm39)	D295E	probably benign	Het
Ndufb8	T	C	19: 44,538,820 (GRCm39)	Y167C	probably damaging	Het
Nisch	A	G	14: 30,913,478 (GRCm39)		probably benign	Het
Nucb1	A	G	7: 45,148,288 (GRCm39)	F175S	probably damaging	Het
Or1l8	T	G	2: 36,817,346 (GRCm39)	Y260S	probably damaging	Het
Or6c6c	G	A	10: 129,541,160 (GRCm39)	V138M	probably benign	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or8b44	T	G	9: 38,410,868 (GRCm39)	I301R	unknown	Het
Pip5k1c	T	C	10: 81,148,349 (GRCm39)	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857 (GRCm39)		probably benign	Het
Prkag1	A	G	15: 98,713,776 (GRCm39)	V18A	probably damaging	Het
Rad50	T	C	11: 53,559,050 (GRCm39)	N1063S	probably benign	Het
Rnf170	C	T	8: 26,619,171 (GRCm39)	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,328,498 (GRCm39)	D1977G	probably benign	Het
Sema3a	G	A	5: 13,607,092 (GRCm39)		probably null	Het
Setx	T	A	2: 29,016,917 (GRCm39)	C7S	probably damaging	Het
Slc23a2	A	G	2: 131,907,384 (GRCm39)	I417T	probably damaging	Het
Spink6	T	G	18: 44,204,588 (GRCm39)	F18C	unknown	Het
Sptbn1	T	C	11: 30,070,783 (GRCm39)	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,699,609 (GRCm39)	Y188H	probably damaging	Het
Tecpr1	C	A	5: 144,134,762 (GRCm39)	K1040N	probably benign	Het
Tll1	T	A	8: 64,470,720 (GRCm39)	Y901F	probably benign	Het
Tmem81	C	T	1: 132,435,635 (GRCm39)	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,758 (GRCm39)	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,313,411 (GRCm39)	I827N	probably benign	Het
Wdr35	A	G	12: 9,070,000 (GRCm39)	K857R	probably benign	Het
Zfp110	A	G	7: 12,582,569 (GRCm39)	T406A	probably benign	Het
Zfp52	T	C	17: 21,782,084 (GRCm39)	L644P	possibly damaging	Het
Zfp605	G	A	5: 110,275,451 (GRCm39)	V190I	probably benign	Het
Zfp964	A	G	8: 70,116,733 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,649,805 (GRCm39)	S779P	probably benign	Het
Zswim5	T	A	4: 116,844,092 (GRCm39)	N1043K	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
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
R5389:Notch3	UTSW	17	32,358,163 (GRCm39)	missense	probably benign
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'- GCCATGCAGATGCAAGTAAACTGG -3'
(R):5'- AACCCCTGCCATGAGGATGCTATC -3'

Sequencing Primer
(F):5'- GCCAATTCGGTCAAGACACG -3'
(R):5'- CATGAGGATGCTATCTGTGACAC -3'

Posted On

2014-05-09