Incidental Mutation 'R7162:Notch3'
ID 557686
Institutional Source Beutler Lab
Gene Symbol Notch3
Ensembl Gene ENSMUSG00000038146
Gene Name notch 3
Synonyms hpbk, N3
MMRRC Submission 045261-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7162 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 32339794-32385826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32365423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1096 (H1096Q)
Ref Sequence ENSEMBL: ENSMUSP00000085016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087723]
AlphaFold Q61982
Predicted Effect probably damaging
Transcript: ENSMUST00000087723
AA Change: H1096Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: H1096Q

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (85/86)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C T 1: 87,055,471 (GRCm39) T506I unknown Het
Ank1 T C 8: 23,622,370 (GRCm39) W1640R possibly damaging Het
Atp2a2 A G 5: 122,627,387 (GRCm39) M126T probably benign Het
Bptf A T 11: 106,934,457 (GRCm39) probably null Het
Brat1 T C 5: 140,696,004 (GRCm39) V125A probably benign Het
Cables1 T C 18: 12,059,423 (GRCm39) probably null Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Cacna1b A C 2: 24,590,034 (GRCm39) I558S probably benign Het
Ccdc166 A G 15: 75,853,044 (GRCm39) S308P probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cfhr2 A G 1: 139,741,264 (GRCm39) V237A probably benign Het
Clybl C A 14: 122,608,732 (GRCm39) S108* probably null Het
Cubn A G 2: 13,347,309 (GRCm39) Y2070H probably damaging Het
Cyp8b1 A G 9: 121,744,777 (GRCm39) F185S probably damaging Het
Dennd2c T A 3: 103,063,423 (GRCm39) V620D probably damaging Het
Dis3l2 T C 1: 86,971,752 (GRCm39) F597L possibly damaging Het
Eif3f G A 7: 108,539,938 (GRCm39) R282H probably benign Het
Ell C A 8: 71,031,559 (GRCm39) R86S possibly damaging Het
Eppk1 A G 15: 75,990,809 (GRCm39) V2024A possibly damaging Het
Exoc6 T C 19: 37,565,566 (GRCm39) I214T probably damaging Het
Faim2 A G 15: 99,419,048 (GRCm39) probably null Het
Gli1 A G 10: 127,168,306 (GRCm39) S516P probably benign Het
Gm18596 A T 10: 77,578,034 (GRCm39) S147T unknown Het
Gm19965 A G 1: 116,750,095 (GRCm39) Y592C unknown Het
Gng12 T C 6: 66,994,285 (GRCm39) S36P unknown Het
Gramd2b G A 18: 56,618,529 (GRCm39) probably null Het
Hmcn1 T A 1: 150,624,744 (GRCm39) T1054S probably benign Het
Ifngr1 A G 10: 19,485,101 (GRCm39) T367A probably benign Het
Il21r G T 7: 125,231,483 (GRCm39) V304L probably benign Het
Ino80d G A 1: 63,104,894 (GRCm39) T394M probably damaging Het
Itfg2 C T 6: 128,387,546 (GRCm39) V380M probably damaging Het
Kcna5 C T 6: 126,510,806 (GRCm39) V441I possibly damaging Het
Kcp T A 6: 29,497,199 (GRCm39) probably null Het
Kdf1 C T 4: 133,257,229 (GRCm39) T375I unknown Het
Klk1b1 A T 7: 43,618,671 (GRCm39) D16V probably damaging Het
Krtap5-4 A C 7: 141,857,335 (GRCm39) T2P unknown Het
Lamtor1 A G 7: 101,555,243 (GRCm39) D13G probably benign Het
Lrp10 T C 14: 54,703,163 (GRCm39) V72A possibly damaging Het
Lrrc1 C A 9: 77,339,472 (GRCm39) A503S probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Myo5b C G 18: 74,828,498 (GRCm39) L717V probably benign Het
Myoz3 T A 18: 60,709,485 (GRCm39) R225S probably damaging Het
Myrf A G 19: 10,196,010 (GRCm39) F335L possibly damaging Het
Nfib A C 4: 82,268,677 (GRCm39) S292A probably damaging Het
Nt5c1a A G 4: 123,107,898 (GRCm39) R194G probably benign Het
Or10d3 A G 9: 39,461,525 (GRCm39) I214T probably damaging Het
Or5a1 A G 19: 12,097,501 (GRCm39) F192L possibly damaging Het
Parp4 A G 14: 56,886,333 (GRCm39) E1804G unknown Het
Pcdhac2 A T 18: 37,278,840 (GRCm39) I607L probably benign Het
Pcdhb5 A G 18: 37,454,739 (GRCm39) D373G probably benign Het
Pcf11 A T 7: 92,313,221 (GRCm39) V154E probably damaging Het
Pdia3 T G 2: 121,260,002 (GRCm39) D180E probably benign Het
Piezo2 C A 18: 63,257,780 (GRCm39) V313F possibly damaging Het
Pik3ap1 C A 19: 41,309,965 (GRCm39) A452S probably benign Het
Plb1 A G 5: 32,507,007 (GRCm39) K1194R probably benign Het
Pld3 A C 7: 27,231,899 (GRCm39) W431G probably damaging Het
Plekha3 T C 2: 76,523,110 (GRCm39) probably null Het
Ppm1f G T 16: 16,732,057 (GRCm39) R169L probably damaging Het
Ppp2r3d A G 9: 124,439,673 (GRCm38) V60A Het
Prop1 T A 11: 50,842,881 (GRCm39) D102V probably damaging Het
Rbm27 G A 18: 42,447,092 (GRCm39) G446R unknown Het
Rc3h2 C A 2: 37,299,617 (GRCm39) V138L possibly damaging Het
Rorc G A 3: 94,284,915 (GRCm39) probably null Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sart3 A G 5: 113,900,896 (GRCm39) Y181H probably damaging Het
Sbpl A T 17: 24,172,439 (GRCm39) M160K possibly damaging Het
Sh3gl3 A G 7: 81,933,350 (GRCm39) S238G probably benign Het
Slc22a30 A G 19: 8,314,081 (GRCm39) probably null Het
Slc3a1 A T 17: 85,371,442 (GRCm39) R665* probably null Het
Stk32a C A 18: 43,430,649 (GRCm39) Y186* probably null Het
Stxbp6 T C 12: 44,949,663 (GRCm39) N89D probably benign Het
Svep1 A G 4: 58,070,262 (GRCm39) F2508S possibly damaging Het
Tas1r1 A G 4: 152,116,695 (GRCm39) V313A possibly damaging Het
Tmem81 T C 1: 132,435,355 (GRCm39) Y54H probably damaging Het
Tmtc1 T C 6: 148,172,985 (GRCm39) N582S probably damaging Het
Top2b T C 14: 16,416,653 (GRCm38) S1138P probably benign Het
Trim24 T A 6: 37,942,456 (GRCm39) N989K possibly damaging Het
Trim72 T A 7: 127,606,821 (GRCm39) M145K probably benign Het
Ttll9 T A 2: 152,831,523 (GRCm39) S154T probably damaging Het
Tusc3 T C 8: 39,593,741 (GRCm39) V286A probably benign Het
Vat1l C A 8: 114,963,518 (GRCm39) H185N probably damaging Het
Vmn1r209 A T 13: 22,990,128 (GRCm39) D187E probably damaging Het
Vmn2r87 T C 10: 130,313,416 (GRCm39) N450S probably benign Het
Wdr7 T A 18: 63,857,210 (GRCm39) D95E possibly damaging Het
Zfp937 C T 2: 150,081,439 (GRCm39) H490Y probably benign Het
Zfp974 A T 7: 27,610,944 (GRCm39) H260Q 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
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
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
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'- TGCTGACTCTGGATGAAGCTG -3'
(R):5'- ACACTAGGGATTGATGGCAGTG -3'

Sequencing Primer
(F):5'- CTGAGTGATACAGAGTGCTTACC -3'
(R):5'- ATGGCCACCTCTGAGTCTGATG -3'
Posted On 2019-06-26