Incidental Mutation 'R1623:Notch3'
ID 174832
Institutional Source Beutler Lab
Gene Symbol Notch3
Ensembl Gene ENSMUSG00000038146
Gene Name notch 3
Synonyms hpbk, N3
MMRRC Submission 039660-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1623 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 32339794-32385826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32358165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1686 (D1686G)
Ref Sequence ENSEMBL: ENSMUSP00000085016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087723]
AlphaFold Q61982
Predicted Effect probably benign
Transcript: ENSMUST00000087723
AA Change: D1686G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: D1686G

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 94.9%
  • 20x: 87.6%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A T 2: 22,984,356 (GRCm39) D294V probably damaging Het
Actn2 A T 13: 12,355,320 (GRCm39) I21N probably benign Het
Adamts2 C A 11: 50,558,942 (GRCm39) P219H possibly damaging Het
Atg16l2 A G 7: 100,939,113 (GRCm39) F584L probably benign Het
Ccdc81 C T 7: 89,535,390 (GRCm39) R282Q probably benign Het
Ccn4 G T 15: 66,763,448 (GRCm39) V12L possibly damaging Het
Cd200r3 G A 16: 44,771,811 (GRCm39) C25Y possibly damaging Het
Cdkl4 C T 17: 80,863,731 (GRCm39) probably null Het
Chrne T C 11: 70,509,254 (GRCm39) E109G possibly damaging Het
Clmp A G 9: 40,693,856 (GRCm39) T358A probably benign Het
Cmtr1 G T 17: 29,906,021 (GRCm39) probably null Het
Col25a1 A G 3: 130,343,699 (GRCm39) E389G probably damaging Het
Ctc1 C T 11: 68,911,968 (GRCm39) T49M probably damaging Het
Cyth3 T A 5: 143,687,127 (GRCm39) M120K probably damaging Het
D430041D05Rik T A 2: 103,983,308 (GRCm39) E1996V probably damaging Het
Dnah9 T C 11: 65,928,463 (GRCm39) M2069V probably damaging Het
Dsg1c T C 18: 20,408,234 (GRCm39) Y428H probably damaging Het
Exosc8 T A 3: 54,641,752 (GRCm39) T7S probably damaging Het
F5 A G 1: 164,023,191 (GRCm39) Y1583C probably damaging Het
Fam178b A G 1: 36,683,405 (GRCm39) I105T probably damaging Het
Fam181a T A 12: 103,282,591 (GRCm39) Y165* probably null Het
Fbn2 G T 18: 58,181,620 (GRCm39) N1880K possibly damaging Het
Gbgt1 A T 2: 28,394,988 (GRCm39) M209L probably benign Het
Gkn2 C A 6: 87,355,152 (GRCm39) Y120* probably null Het
Gm14295 T A 2: 176,499,157 (GRCm39) D1E probably damaging Het
Gpr141 A T 13: 19,936,082 (GRCm39) probably null Het
Gramd2b C A 18: 56,565,423 (GRCm39) P26Q probably benign Het
Greb1 A G 12: 16,724,771 (GRCm39) I1801T probably damaging Het
Gstm3 T A 3: 107,875,151 (GRCm39) I64F possibly damaging Het
Gtse1 A G 15: 85,751,779 (GRCm39) Y324C probably benign Het
Hal C G 10: 93,352,159 (GRCm39) T650R probably benign Het
Hdac7 G A 15: 97,706,285 (GRCm39) Q293* probably null Het
Hdlbp A T 1: 93,351,591 (GRCm39) N437K probably damaging Het
Hif1an A G 19: 44,557,862 (GRCm39) D248G probably damaging Het
Hivep3 T C 4: 119,952,901 (GRCm39) S406P possibly damaging Het
Hmcn2 A T 2: 31,348,051 (GRCm39) D4899V possibly damaging Het
Ikzf3 C T 11: 98,381,157 (GRCm39) probably null Het
Inka2 G A 3: 105,624,136 (GRCm39) G151D probably damaging Het
Itgb4 C A 11: 115,882,142 (GRCm39) Y819* probably null Het
Itpripl1 T C 2: 126,983,555 (GRCm39) D189G possibly damaging Het
Kmt2e A G 5: 23,687,500 (GRCm39) Y450C probably damaging Het
Mc4r A G 18: 66,993,068 (GRCm39) L15P probably benign Het
Mical1 T G 10: 41,357,389 (GRCm39) probably null Het
Mical3 C T 6: 121,001,768 (GRCm39) V575M probably damaging Het
Mki67 A T 7: 135,310,547 (GRCm39) probably null Het
Mocs2 G A 13: 114,961,158 (GRCm39) E52K probably benign Het
Myo7b T C 18: 32,133,104 (GRCm39) N415S probably damaging Het
Notch1 G A 2: 26,368,624 (GRCm39) T555I possibly damaging Het
Oit3 A G 10: 59,264,061 (GRCm39) F358L probably damaging Het
Or10x1 A C 1: 174,196,515 (GRCm39) I11L probably benign Het
Or6k4 A T 1: 173,964,883 (GRCm39) D191V probably damaging Het
Orai1 T A 5: 123,167,265 (GRCm39) I146N probably damaging Het
Pck1 A G 2: 172,996,511 (GRCm39) I142V probably benign Het
Pdap1 C T 5: 145,069,739 (GRCm39) V89M possibly damaging Het
Phf11a T C 14: 59,525,000 (GRCm39) D68G possibly damaging Het
Pilrb2 T C 5: 137,869,510 (GRCm39) N30S probably damaging Het
Pkd1 G A 17: 24,797,243 (GRCm39) V2551I probably damaging Het
Pnpla7 T C 2: 24,942,611 (GRCm39) V132A probably damaging Het
Prr35 G A 17: 26,166,508 (GRCm39) P343L probably benign Het
Rad18 C T 6: 112,605,480 (GRCm39) S398N probably damaging Het
Rdh16f1 C A 10: 127,626,722 (GRCm39) N258K probably benign Het
Riox2 A G 16: 59,303,405 (GRCm39) H240R probably damaging Het
Ruvbl1 C T 6: 88,462,752 (GRCm39) A292V probably damaging Het
Ryr1 C T 7: 28,794,915 (GRCm39) G1151S probably damaging Het
Serpinb9b T C 13: 33,213,548 (GRCm39) I35T possibly damaging Het
Slc1a1 T A 19: 28,882,122 (GRCm39) M328K probably benign Het
Slc7a13 A T 4: 19,824,031 (GRCm39) T267S possibly damaging Het
Speer3 G T 5: 13,846,335 (GRCm39) M218I probably benign Het
Sptan1 A G 2: 29,876,432 (GRCm39) I271V probably damaging Het
Swap70 A G 7: 109,863,255 (GRCm39) T195A probably benign Het
Tgs1 T A 4: 3,585,964 (GRCm39) N280K probably benign Het
Tonsl A G 15: 76,522,709 (GRCm39) C181R probably damaging Het
Trdn A G 10: 33,134,098 (GRCm39) K333R possibly damaging Het
Trpc4 T A 3: 54,206,600 (GRCm39) M600K probably damaging Het
Ubr3 C T 2: 69,808,067 (GRCm39) Q1183* probably null Het
Ubxn4 T A 1: 128,200,588 (GRCm39) L360I possibly damaging Het
Ugt2b1 T A 5: 87,074,267 (GRCm39) T31S probably benign Het
Uspl1 T C 5: 149,152,009 (GRCm39) S1056P probably damaging Het
Vmn2r60 A T 7: 41,785,279 (GRCm39) K164* probably null Het
Vwce T A 19: 10,624,108 (GRCm39) L333* probably null Het
Wdr95 T A 5: 149,497,581 (GRCm39) L253Q probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp142 T C 1: 74,610,934 (GRCm39) T851A possibly damaging Het
Other mutations in Notch3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AACACTGAAGGCCCAGATGGAGTC -3'
(R):5'- GTTGAAGCCCTGTGAGTAAAGCCC -3'

Sequencing Primer
(F):5'- CCCAGATGGAGTCTGTAGTTAAG -3'
(R):5'- GAGTAAAGCCCCATCTTCTGG -3'
Posted On 2014-04-24