Mutagenetix > Incidental Mutations

Incidental Mutation 'R4885:Notch3'

375671

Institutional Source

Beutler Lab

Gene Symbol

Notch3

Ensembl Gene

ENSMUSG00000038146

Gene Name

notch 3

Synonyms

N3, hpbk

MMRRC Submission

042851-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4885 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

32120820-32166880 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32141377 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1527 (R1527C)

Ref Sequence

ENSEMBL: ENSMUSP00000085016 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000087723
AA Change: R1527C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: R1527C

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

0.9166

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (77/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,551,675	T317A	probably benign	Het
Adck1	G	A	12: 88,441,095	A199T	probably benign	Het
Adgrb1	A	T	15: 74,572,162	M1038L	probably benign	Het
Anapc10	C	T	8: 79,729,150	T76I	probably benign	Het
Bptf	C	T	11: 107,074,648	S1177N	probably benign	Het
Bsn	A	T	9: 108,107,527	Y337*	probably null	Het
C77080	C	T	4: 129,224,445	R214Q	probably damaging	Het
C87499	T	A	4: 88,627,982	L374F	possibly damaging	Het
Ccl20	T	A	1: 83,117,859	V48E	possibly damaging	Het
Ccnl1	C	T	3: 65,956,899	D122N	probably damaging	Het
Chat	C	G	14: 32,454,610	G69A	probably damaging	Het
Cr2	T	A	1: 195,158,731	I418F	possibly damaging	Het
Dmxl1	G	C	18: 49,878,795	A1340P	probably damaging	Het
Eef2k	G	A	7: 120,891,932	R547Q	probably benign	Het
Eml2	G	A	7: 19,204,010	S793N	probably benign	Het
Enox1	T	A	14: 77,720,850	L632Q	probably damaging	Het
Fabp9	T	C	3: 10,194,678	K92E	probably damaging	Het
Fam214a	T	C	9: 75,006,367	L94P	probably damaging	Het
Fam234a	T	C	17: 26,213,585	H530R	probably benign	Het
Fancm	C	T	12: 65,102,643	Q728*	probably null	Het
Fgd3	G	A	13: 49,263,989	T666M	possibly damaging	Het
Foxs1	T	C	2: 152,932,381	M251V	probably benign	Het
Fsip2	A	T	2: 82,988,094	M4724L	probably benign	Het
Gemin6	G	A	17: 80,227,898	E96K	probably damaging	Het
Gfi1	C	A	5: 107,723,286	V80F	probably damaging	Het
Hectd1	A	G	12: 51,800,722	V442A	probably damaging	Het
Hist2h3b	G	T	3: 96,268,961	V90F	possibly damaging	Het
Ift80	A	G	3: 68,950,496	I272T	probably damaging	Het
Impact	C	G	18: 12,986,373	A214G	probably damaging	Het
Insl6	C	T	19: 29,325,156	E54K	probably benign	Het
Irak3	T	A	10: 120,182,681	D54V	probably damaging	Het
Itk	C	T	11: 46,336,344		probably null	Het
Ivl	A	T	3: 92,572,411	C116S	probably benign	Het
Kcnq4	G	A	4: 120,713,063	A361V	probably benign	Het
L1td1	C	T	4: 98,737,311	P581L	probably benign	Het
Lrp1b	T	C	2: 41,468,893	E656G	probably benign	Het
Macrod2	A	G	2: 140,420,065	T89A	possibly damaging	Het
Mettl13	T	C	1: 162,537,268	D514G	probably damaging	Het
Mfsd13b	A	T	7: 120,991,488	I151F	possibly damaging	Het
Mical3	G	A	6: 120,935,253	P1882S	probably damaging	Het
Mycbp2	T	C	14: 103,145,946	E394G	possibly damaging	Het
Myo16	T	A	8: 10,438,892	S688T	probably damaging	Het
Neb	T	C	2: 52,286,046	Y1467C	probably damaging	Het
Nkx6-3	C	A	8: 23,153,898	P105Q	possibly damaging	Het
Nlrp1b	T	C	11: 71,217,884	T264A	possibly damaging	Het
Nnat	G	A	2: 157,561,758	C122Y	probably damaging	Het
Olfr1388	C	T	11: 49,444,622	T257I	probably damaging	Het
Olfr186	A	G	16: 59,027,155	Y251H	probably damaging	Het
Olfr262	T	G	19: 12,240,718		probably null	Het
Pds5b	C	T	5: 150,716,462	T14I	probably benign	Het
Phf19	A	T	2: 34,899,706	I334N	probably damaging	Het
Pik3ap1	T	C	19: 41,375,926	D118G	probably benign	Het
Pkhd1	T	A	1: 20,070,488	E3886V	possibly damaging	Het
Pkp1	A	G	1: 135,918,952	S21P	possibly damaging	Het
Rack1	C	A	11: 48,805,636	A290E	probably damaging	Het
Rbm15	A	G	3: 107,332,254	V276A	probably benign	Het
Rnf216	A	T	5: 143,090,580	L183*	probably null	Het
Sc5d	T	C	9: 42,255,626	I206V	probably benign	Het
Scpep1	A	G	11: 88,935,911	I233T	probably benign	Het
Sh3pxd2a	A	G	19: 47,268,693	Y529H	probably damaging	Het
Slc1a4	A	C	11: 20,304,384	V494G	probably damaging	Het
Slc38a7	T	C	8: 95,848,602	T17A	probably benign	Het
Smg6	T	C	11: 75,041,918	S73P	probably damaging	Het
Stk32b	T	C	5: 37,466,797	Y202C	probably damaging	Het
Tas2r137	A	G	6: 40,491,400	S55G	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Ttc3	T	C	16: 94,419,465	I568T	probably damaging	Het
Ttc3	G	C	16: 94,426,831		probably null	Het
Ttc41	T	G	10: 86,759,102	N913K	possibly damaging	Het
Vrk1	G	A	12: 106,057,972	V236M	probably damaging	Het
Wscd1	C	T	11: 71,760,146	R100C	probably damaging	Het
Zc3h18	C	T	8: 122,401,706		probably benign	Het

Other mutations in Notch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Notch3	APN	17	32158114	nonsense	probably null
IGL01065:Notch3	APN	17	32146416	nonsense	probably null
IGL01296:Notch3	APN	17	32166757	missense	unknown
IGL01322:Notch3	APN	17	32144471	missense	probably damaging	1.00
IGL01343:Notch3	APN	17	32143436	missense	probably benign	0.10
IGL01358:Notch3	APN	17	32144747	missense	probably damaging	1.00
IGL01600:Notch3	APN	17	32144498	missense	probably damaging	1.00
IGL01622:Notch3	APN	17	32158870	missense	possibly damaging	0.50
IGL01623:Notch3	APN	17	32158870	missense	possibly damaging	0.50
IGL01971:Notch3	APN	17	32124347	missense	probably damaging	1.00
IGL02000:Notch3	APN	17	32122742	missense	probably damaging	0.99
IGL02072:Notch3	APN	17	32147074	nonsense	probably null
IGL02145:Notch3	APN	17	32154741	missense	probably benign	0.01
IGL02256:Notch3	APN	17	32132324	missense	probably damaging	1.00
IGL02366:Notch3	APN	17	32144205	missense	probably benign
IGL02476:Notch3	APN	17	32158638	missense	possibly damaging	0.67
IGL02502:Notch3	APN	17	32158278	nonsense	probably null
IGL02551:Notch3	APN	17	32154731	splice site	probably benign
divide	UTSW	17	32137813	splice site	probably null
Lopressor	UTSW	17	32153884	missense	probably damaging	1.00
PIT4486001:Notch3	UTSW	17	32154763	missense	probably damaging	1.00
R0115:Notch3	UTSW	17	32133462	missense	possibly damaging	0.82
R0201:Notch3	UTSW	17	32156148	splice site	probably benign
R0630:Notch3	UTSW	17	32147472	splice site	probably benign
R1167:Notch3	UTSW	17	32122745	missense	possibly damaging	0.95
R1432:Notch3	UTSW	17	32164224	missense	probably benign
R1567:Notch3	UTSW	17	32158580	missense	possibly damaging	0.77
R1623:Notch3	UTSW	17	32139191	missense	probably benign	0.00
R1663:Notch3	UTSW	17	32156119	missense	probably damaging	1.00
R1668:Notch3	UTSW	17	32158589	missense	probably damaging	0.99
R1789:Notch3	UTSW	17	32158725	missense	probably damaging	1.00
R1813:Notch3	UTSW	17	32143428	missense	probably benign	0.08
R1837:Notch3	UTSW	17	32124322	missense	probably damaging	1.00
R1896:Notch3	UTSW	17	32143428	missense	probably benign	0.08
R1937:Notch3	UTSW	17	32153852	missense	probably benign	0.03
R1954:Notch3	UTSW	17	32166678	missense	probably benign
R2014:Notch3	UTSW	17	32158000	missense	probably benign	0.00
R2058:Notch3	UTSW	17	32143644	missense	probably benign
R2068:Notch3	UTSW	17	32135508	missense	probably benign	0.00
R2097:Notch3	UTSW	17	32122754	missense	probably damaging	1.00
R2112:Notch3	UTSW	17	32144610	missense	probably benign	0.19
R2156:Notch3	UTSW	17	32147844	missense	probably damaging	1.00
R2211:Notch3	UTSW	17	32147978	missense	probably benign	0.00
R2324:Notch3	UTSW	17	32150134	splice site	probably benign
R2432:Notch3	UTSW	17	32153804	missense	probably damaging	1.00
R3117:Notch3	UTSW	17	32158115	missense	probably damaging	1.00
R3236:Notch3	UTSW	17	32158461	missense	probably damaging	0.96
R3409:Notch3	UTSW	17	32150702	missense	possibly damaging	0.67
R3434:Notch3	UTSW	17	32158618	missense	possibly damaging	0.80
R3435:Notch3	UTSW	17	32158618	missense	possibly damaging	0.80
R3438:Notch3	UTSW	17	32153590	missense	probably damaging	1.00
R3926:Notch3	UTSW	17	32153557	missense	possibly damaging	0.92
R4087:Notch3	UTSW	17	32158113	missense	possibly damaging	0.60
R4115:Notch3	UTSW	17	32158433	missense	probably damaging	1.00
R4214:Notch3	UTSW	17	32132207	missense	possibly damaging	0.96
R4234:Notch3	UTSW	17	32141341	missense	probably damaging	0.97
R4242:Notch3	UTSW	17	32143745	missense	possibly damaging	0.74
R4658:Notch3	UTSW	17	32154763	missense	probably damaging	1.00
R4878:Notch3	UTSW	17	32147085	missense	probably damaging	1.00
R4879:Notch3	UTSW	17	32147963	missense	probably benign	0.00
R4924:Notch3	UTSW	17	32144731	missense	probably damaging	1.00
R5084:Notch3	UTSW	17	32157890	critical splice donor site	probably null
R5086:Notch3	UTSW	17	32143334	missense	probably benign	0.13
R5343:Notch3	UTSW	17	32143283	missense	probably benign	0.03
R5389:Notch3	UTSW	17	32139189	missense	probably benign
R5503:Notch3	UTSW	17	32147055	missense	probably benign	0.00
R5698:Notch3	UTSW	17	32157987	missense	probably damaging	1.00
R5824:Notch3	UTSW	17	32153861	missense	possibly damaging	0.92
R5969:Notch3	UTSW	17	32153884	missense	probably damaging	1.00
R6050:Notch3	UTSW	17	32143527	missense	probably benign
R6274:Notch3	UTSW	17	32147290	missense	probably benign
R6276:Notch3	UTSW	17	32154749	missense	probably benign	0.10
R6313:Notch3	UTSW	17	32151154	intron	probably null
R6316:Notch3	UTSW	17	32137813	splice site	probably null
R6380:Notch3	UTSW	17	32144559	missense	probably damaging	1.00
R6401:Notch3	UTSW	17	32158623	missense	probably benign	0.01
R6502:Notch3	UTSW	17	32158217	missense	probably damaging	1.00
R6741:Notch3	UTSW	17	32143484	missense	probably benign	0.16
R7131:Notch3	UTSW	17	32144217	missense	probably benign
R7140:Notch3	UTSW	17	32156377	missense	possibly damaging	0.84
R7162:Notch3	UTSW	17	32146449	missense	probably damaging	0.98
R7171:Notch3	UTSW	17	32158962	missense	probably damaging	1.00
R7449:Notch3	UTSW	17	32157966	missense	probably damaging	1.00
R7450:Notch3	UTSW	17	32141391	missense	possibly damaging	0.69
R7554:Notch3	UTSW	17	32122371	missense	probably benign	0.03
R7575:Notch3	UTSW	17	32154819	missense	possibly damaging	0.81
R7632:Notch3	UTSW	17	32158506	missense	probably benign
R7633:Notch3	UTSW	17	32158622	missense	probably benign	0.17
T0975:Notch3	UTSW	17	32146417	missense	probably damaging	0.99
Z1088:Notch3	UTSW	17	32158652	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGAGCTCTCAACTAAGAAGCGTG -3'
(R):5'- TTATGAGAAGTACTGCGCCG -3'

Sequencing Primer
(F):5'- GTGCCCTAACCGCTGTAC -3'
(R):5'- GCCGACCACTTTGCAGATG -3'

Posted On

2016-03-17