Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Notch3'

375089

Institutional Source

Beutler Lab

Gene Symbol

Notch3

Ensembl Gene

ENSMUSG00000038146

Gene Name

notch 3

Synonyms

N3, hpbk

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32120820-32166880 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32147085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1014 (G1014D)

Ref Sequence

ENSEMBL: ENSMUSP00000085016 (fasta)

Gene Model

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

AlphaFold

Q61982

Predicted Effect

probably damaging
Transcript: ENSMUST00000087723
AA Change: G1014D

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

SMART Domains

Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: G1014D

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

Meta Mutation Damage Score

0.9147

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845 (GRCm38)	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086 (GRCm38)	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845 (GRCm38)	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm38)	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244 (GRCm38)	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691 (GRCm38)	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064 (GRCm38)	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956 (GRCm38)	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083 (GRCm38)	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710 (GRCm38)	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476 (GRCm38)	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034 (GRCm38)		probably benign	Het
Efemp2	A	T	19: 5,480,761 (GRCm38)		probably benign	Het
Emilin1	A	G	5: 30,917,066 (GRCm38)	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771 (GRCm38)	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572 (GRCm38)	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166 (GRCm38)		probably null	Het
Fbln2	T	C	6: 91,256,995 (GRCm38)		probably null	Het
Gga3	A	T	11: 115,591,321 (GRCm38)	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891 (GRCm38)		probably benign	Het
Gtpbp6	C	T	5: 110,107,311 (GRCm38)		probably benign	Het
Hps4	T	C	5: 112,375,368 (GRCm38)	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947 (GRCm38)	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154 (GRCm38)	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003 (GRCm38)	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490 (GRCm38)	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640 (GRCm38)	K169M	probably damaging	Het
Met	A	G	6: 17,549,059 (GRCm38)	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387 (GRCm38)	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094 (GRCm38)	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456 (GRCm38)	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430 (GRCm38)	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004 (GRCm38)	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394 (GRCm38)	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333 (GRCm38)	S429P	probably damaging	Het
Nup107	A	T	10: 117,751,418 (GRCm38)	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455 (GRCm38)	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627 (GRCm38)	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848 (GRCm38)	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510 (GRCm38)		probably benign	Het
Pde1a	A	T	2: 79,878,139 (GRCm38)	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981 (GRCm38)	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054 (GRCm38)	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740 (GRCm38)		probably null	Het
Rabac1	T	A	7: 24,969,967 (GRCm38)	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492 (GRCm38)		probably benign	Het
Rbm48	A	T	5: 3,591,853 (GRCm38)		probably benign	Het
Rft1	C	T	14: 30,677,804 (GRCm38)	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479 (GRCm38)	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453 (GRCm38)	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211 (GRCm38)	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654 (GRCm38)	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675 (GRCm38)	R308C	probably benign	Het
Smo	A	G	6: 29,753,571 (GRCm38)	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085 (GRCm38)	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555 (GRCm38)		probably null	Het
Tnk2	A	G	16: 32,679,630 (GRCm38)	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564 (GRCm38)	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758 (GRCm38)	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971 (GRCm38)	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205 (GRCm38)	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800 (GRCm38)	G184*	probably null	Het

Other mutations in Notch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Notch3	APN	17	32,158,114 (GRCm38)	nonsense	probably null
IGL01065:Notch3	APN	17	32,146,416 (GRCm38)	nonsense	probably null
IGL01296:Notch3	APN	17	32,166,757 (GRCm38)	missense	unknown
IGL01322:Notch3	APN	17	32,144,471 (GRCm38)	missense	probably damaging	1.00
IGL01343:Notch3	APN	17	32,143,436 (GRCm38)	missense	probably benign	0.10
IGL01358:Notch3	APN	17	32,144,747 (GRCm38)	missense	probably damaging	1.00
IGL01600:Notch3	APN	17	32,144,498 (GRCm38)	missense	probably damaging	1.00
IGL01622:Notch3	APN	17	32,158,870 (GRCm38)	missense	possibly damaging	0.50
IGL01623:Notch3	APN	17	32,158,870 (GRCm38)	missense	possibly damaging	0.50
IGL01971:Notch3	APN	17	32,124,347 (GRCm38)	missense	probably damaging	1.00
IGL02000:Notch3	APN	17	32,122,742 (GRCm38)	missense	probably damaging	0.99
IGL02072:Notch3	APN	17	32,147,074 (GRCm38)	nonsense	probably null
IGL02145:Notch3	APN	17	32,154,741 (GRCm38)	missense	probably benign	0.01
IGL02256:Notch3	APN	17	32,132,324 (GRCm38)	missense	probably damaging	1.00
IGL02366:Notch3	APN	17	32,144,205 (GRCm38)	missense	probably benign
IGL02476:Notch3	APN	17	32,158,638 (GRCm38)	missense	possibly damaging	0.67
IGL02502:Notch3	APN	17	32,158,278 (GRCm38)	nonsense	probably null
IGL02551:Notch3	APN	17	32,154,731 (GRCm38)	splice site	probably benign
divide	UTSW	17	32,137,813 (GRCm38)	splice site	probably null
impressed	UTSW	17	32,166,678 (GRCm38)	missense	probably benign
indented	UTSW	17	32,147,963 (GRCm38)	missense	probably benign	0.00
Lopressor	UTSW	17	32,153,884 (GRCm38)	missense	probably damaging	1.00
marginal	UTSW	17	32,164,224 (GRCm38)	missense	probably benign
PIT4486001:Notch3	UTSW	17	32,154,763 (GRCm38)	missense	probably damaging	1.00
R0115:Notch3	UTSW	17	32,133,462 (GRCm38)	missense	possibly damaging	0.82
R0201:Notch3	UTSW	17	32,156,148 (GRCm38)	splice site	probably benign
R0630:Notch3	UTSW	17	32,147,472 (GRCm38)	splice site	probably benign
R1167:Notch3	UTSW	17	32,122,745 (GRCm38)	missense	possibly damaging	0.95
R1432:Notch3	UTSW	17	32,164,224 (GRCm38)	missense	probably benign
R1567:Notch3	UTSW	17	32,158,580 (GRCm38)	missense	possibly damaging	0.77
R1623:Notch3	UTSW	17	32,139,191 (GRCm38)	missense	probably benign	0.00
R1663:Notch3	UTSW	17	32,156,119 (GRCm38)	missense	probably damaging	1.00
R1668:Notch3	UTSW	17	32,158,589 (GRCm38)	missense	probably damaging	0.99
R1789:Notch3	UTSW	17	32,158,725 (GRCm38)	missense	probably damaging	1.00
R1813:Notch3	UTSW	17	32,143,428 (GRCm38)	missense	probably benign	0.08
R1837:Notch3	UTSW	17	32,124,322 (GRCm38)	missense	probably damaging	1.00
R1896:Notch3	UTSW	17	32,143,428 (GRCm38)	missense	probably benign	0.08
R1937:Notch3	UTSW	17	32,153,852 (GRCm38)	missense	probably benign	0.03
R1954:Notch3	UTSW	17	32,166,678 (GRCm38)	missense	probably benign
R2014:Notch3	UTSW	17	32,158,000 (GRCm38)	missense	probably benign	0.00
R2058:Notch3	UTSW	17	32,143,644 (GRCm38)	missense	probably benign
R2068:Notch3	UTSW	17	32,135,508 (GRCm38)	missense	probably benign	0.00
R2097:Notch3	UTSW	17	32,122,754 (GRCm38)	missense	probably damaging	1.00
R2112:Notch3	UTSW	17	32,144,610 (GRCm38)	missense	probably benign	0.19
R2156:Notch3	UTSW	17	32,147,844 (GRCm38)	missense	probably damaging	1.00
R2211:Notch3	UTSW	17	32,147,978 (GRCm38)	missense	probably benign	0.00
R2324:Notch3	UTSW	17	32,150,134 (GRCm38)	splice site	probably benign
R2432:Notch3	UTSW	17	32,153,804 (GRCm38)	missense	probably damaging	1.00
R3117:Notch3	UTSW	17	32,158,115 (GRCm38)	missense	probably damaging	1.00
R3236:Notch3	UTSW	17	32,158,461 (GRCm38)	missense	probably damaging	0.96
R3409:Notch3	UTSW	17	32,150,702 (GRCm38)	missense	possibly damaging	0.67
R3434:Notch3	UTSW	17	32,158,618 (GRCm38)	missense	possibly damaging	0.80
R3435:Notch3	UTSW	17	32,158,618 (GRCm38)	missense	possibly damaging	0.80
R3438:Notch3	UTSW	17	32,153,590 (GRCm38)	missense	probably damaging	1.00
R3926:Notch3	UTSW	17	32,153,557 (GRCm38)	missense	possibly damaging	0.92
R4087:Notch3	UTSW	17	32,158,113 (GRCm38)	missense	possibly damaging	0.60
R4115:Notch3	UTSW	17	32,158,433 (GRCm38)	missense	probably damaging	1.00
R4214:Notch3	UTSW	17	32,132,207 (GRCm38)	missense	possibly damaging	0.96
R4234:Notch3	UTSW	17	32,141,341 (GRCm38)	missense	probably damaging	0.97
R4242:Notch3	UTSW	17	32,143,745 (GRCm38)	missense	possibly damaging	0.74
R4658:Notch3	UTSW	17	32,154,763 (GRCm38)	missense	probably damaging	1.00
R4879:Notch3	UTSW	17	32,147,963 (GRCm38)	missense	probably benign	0.00
R4885:Notch3	UTSW	17	32,141,377 (GRCm38)	missense	probably damaging	0.98
R4924:Notch3	UTSW	17	32,144,731 (GRCm38)	missense	probably damaging	1.00
R5084:Notch3	UTSW	17	32,157,890 (GRCm38)	critical splice donor site	probably null
R5086:Notch3	UTSW	17	32,143,334 (GRCm38)	missense	probably benign	0.13
R5343:Notch3	UTSW	17	32,143,283 (GRCm38)	missense	probably benign	0.03
R5389:Notch3	UTSW	17	32,139,189 (GRCm38)	missense	probably benign
R5503:Notch3	UTSW	17	32,147,055 (GRCm38)	missense	probably benign	0.00
R5698:Notch3	UTSW	17	32,157,987 (GRCm38)	missense	probably damaging	1.00
R5824:Notch3	UTSW	17	32,153,861 (GRCm38)	missense	possibly damaging	0.92
R5969:Notch3	UTSW	17	32,153,884 (GRCm38)	missense	probably damaging	1.00
R6050:Notch3	UTSW	17	32,143,527 (GRCm38)	missense	probably benign
R6274:Notch3	UTSW	17	32,147,290 (GRCm38)	missense	probably benign
R6276:Notch3	UTSW	17	32,154,749 (GRCm38)	missense	probably benign	0.10
R6313:Notch3	UTSW	17	32,151,154 (GRCm38)	splice site	probably null
R6316:Notch3	UTSW	17	32,137,813 (GRCm38)	splice site	probably null
R6380:Notch3	UTSW	17	32,144,559 (GRCm38)	missense	probably damaging	1.00
R6401:Notch3	UTSW	17	32,158,623 (GRCm38)	missense	probably benign	0.01
R6502:Notch3	UTSW	17	32,158,217 (GRCm38)	missense	probably damaging	1.00
R6741:Notch3	UTSW	17	32,143,484 (GRCm38)	missense	probably benign	0.16
R7131:Notch3	UTSW	17	32,144,217 (GRCm38)	missense	probably benign
R7140:Notch3	UTSW	17	32,156,377 (GRCm38)	missense	possibly damaging	0.84
R7162:Notch3	UTSW	17	32,146,449 (GRCm38)	missense	probably damaging	0.98
R7171:Notch3	UTSW	17	32,158,962 (GRCm38)	missense	probably damaging	1.00
R7449:Notch3	UTSW	17	32,157,966 (GRCm38)	missense	probably damaging	1.00
R7450:Notch3	UTSW	17	32,141,391 (GRCm38)	missense	possibly damaging	0.69
R7554:Notch3	UTSW	17	32,122,371 (GRCm38)	missense	probably benign	0.03
R7575:Notch3	UTSW	17	32,154,819 (GRCm38)	missense	possibly damaging	0.81
R7632:Notch3	UTSW	17	32,158,506 (GRCm38)	missense	probably benign
R7633:Notch3	UTSW	17	32,158,622 (GRCm38)	missense	probably benign	0.17
R7860:Notch3	UTSW	17	32,122,773 (GRCm38)	missense	possibly damaging	0.67
R8052:Notch3	UTSW	17	32,146,571 (GRCm38)	missense	probably damaging	1.00
R8250:Notch3	UTSW	17	32,132,336 (GRCm38)	missense	probably damaging	1.00
R8296:Notch3	UTSW	17	32,122,739 (GRCm38)	missense	probably damaging	1.00
R8306:Notch3	UTSW	17	32,158,112 (GRCm38)	missense	probably damaging	0.99
R8458:Notch3	UTSW	17	32,156,050 (GRCm38)	missense	probably damaging	1.00
R8539:Notch3	UTSW	17	32,156,355 (GRCm38)	missense	possibly damaging	0.92
R8865:Notch3	UTSW	17	32,122,116 (GRCm38)	missense	probably benign	0.01
R8925:Notch3	UTSW	17	32,153,818 (GRCm38)	missense	probably benign	0.14
R8927:Notch3	UTSW	17	32,153,818 (GRCm38)	missense	probably benign	0.14
R9062:Notch3	UTSW	17	32,122,718 (GRCm38)	missense	possibly damaging	0.93
R9079:Notch3	UTSW	17	32,164,059 (GRCm38)	intron	probably benign
R9089:Notch3	UTSW	17	32,151,547 (GRCm38)	missense	probably benign	0.00
R9260:Notch3	UTSW	17	32,143,242 (GRCm38)	critical splice donor site	probably null
R9289:Notch3	UTSW	17	32,158,280 (GRCm38)	missense	probably damaging	1.00
R9294:Notch3	UTSW	17	32,143,691 (GRCm38)	missense	probably benign	0.03
R9661:Notch3	UTSW	17	32,154,818 (GRCm38)	missense	probably damaging	1.00
R9779:Notch3	UTSW	17	32,153,783 (GRCm38)	missense	probably damaging	1.00
T0975:Notch3	UTSW	17	32,146,417 (GRCm38)	missense	probably damaging	0.99
Z1088:Notch3	UTSW	17	32,158,652 (GRCm38)	missense	possibly damaging	0.94
Z1176:Notch3	UTSW	17	32,151,370 (GRCm38)	missense	probably damaging	1.00
Z1176:Notch3	UTSW	17	32,141,516 (GRCm38)	missense	probably benign	0.12
Z1177:Notch3	UTSW	17	32,166,694 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGGCGCTCTCATTTGGC -3'
(R):5'- ATTTGAATGCACCTGCCGGG -3'

Sequencing Primer
(F):5'- GCTCATGCCAGCAAGAGG -3'
(R):5'- AGGGCTTCACTGGGAGTC -3'

Posted On

2016-03-17