Incidental Mutation 'R7860:Notch3'
ID 607464
Institutional Source Beutler Lab
Gene Symbol Notch3
Ensembl Gene ENSMUSG00000038146
Gene Name notch 3
Synonyms hpbk, N3
MMRRC Submission 045913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7860 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 32339794-32385826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32341747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 2002 (T2002A)
Ref Sequence ENSEMBL: ENSMUSP00000085016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087723]
AlphaFold Q61982
Predicted Effect possibly damaging
Transcript: ENSMUST00000087723
AA Change: T2002A

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: T2002A

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 0.3293 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (78/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,905,707 (GRCm39) T493A probably damaging Het
Aars1 A G 8: 111,776,493 (GRCm39) K650E probably benign Het
Abcb1b C T 5: 8,882,258 (GRCm39) S793F probably benign Het
Adamts18 T A 8: 114,501,908 (GRCm39) I318F probably damaging Het
Adcy8 A G 15: 64,571,322 (GRCm39) I1137T probably damaging Het
Ambra1 T A 2: 91,603,838 (GRCm39) F607L probably benign Het
Ankrd46 A T 15: 36,479,566 (GRCm39) V175D possibly damaging Het
Arhgap28 C A 17: 68,208,277 (GRCm39) E114* probably null Het
Arrdc1 C T 2: 24,816,158 (GRCm39) G282S probably damaging Het
Atp1a3 A T 7: 24,681,216 (GRCm39) L790Q probably damaging Het
Bend5 T A 4: 111,272,406 (GRCm39) V12D probably damaging Het
Bod1l C T 5: 41,976,608 (GRCm39) E1569K probably damaging Het
Cdc123 T A 2: 5,808,775 (GRCm39) I234L probably benign Het
Cep126 T G 9: 8,120,749 (GRCm39) E91D probably damaging Het
Cep89 T A 7: 35,113,570 (GRCm39) D199E possibly damaging Het
Ces1d T C 8: 93,897,765 (GRCm39) T442A probably benign Het
Chsy3 C T 18: 59,542,299 (GRCm39) A479V probably benign Het
Clcn4 C A 7: 7,296,060 (GRCm39) G261C probably damaging Het
Clhc1 A T 11: 29,507,651 (GRCm39) probably null Het
Cnot3 T A 7: 3,658,565 (GRCm39) probably null Het
Col9a1 C A 1: 24,276,261 (GRCm39) P723H probably damaging Het
Crybg3 A T 16: 59,375,605 (GRCm39) M169K probably benign Het
Cxxc4 A G 3: 133,963,814 (GRCm39) R353G probably benign Het
Dennd3 A T 15: 73,412,657 (GRCm39) I440F probably damaging Het
Dnai3 A G 3: 145,772,675 (GRCm39) L457P probably damaging Het
Elmo3 G T 8: 106,035,649 (GRCm39) S553I probably damaging Het
Elovl2 A G 13: 41,340,943 (GRCm39) Y198H probably benign Het
Epm2aip1 A G 9: 111,101,105 (GRCm39) Y26C probably damaging Het
Ext1 A C 15: 52,953,335 (GRCm39) C510G possibly damaging Het
Extl3 A T 14: 65,314,938 (GRCm39) D81E probably benign Het
Fbxl5 T A 5: 43,916,018 (GRCm39) T465S probably benign Het
Fbxo31 G A 8: 122,291,384 (GRCm39) probably null Het
Gabrr2 A T 4: 33,081,470 (GRCm39) K169* probably null Het
Haus4 A G 14: 54,779,602 (GRCm39) Y341H probably damaging Het
Itgae A T 11: 73,011,099 (GRCm39) probably null Het
Jmjd7 C T 2: 119,860,996 (GRCm39) H149Y possibly damaging Het
Kcnh2 C T 5: 24,529,561 (GRCm39) C725Y probably damaging Het
Mroh1 C T 15: 76,331,532 (GRCm39) P1252L probably benign Het
Ms4a14 A G 19: 11,280,308 (GRCm39) F750S probably benign Het
Naf1 T A 8: 67,313,165 (GRCm39) D49E unknown Het
Or10q12 T A 19: 13,745,716 (GRCm39) D3E probably benign Het
Or14c44 A G 7: 86,057,119 (GRCm39) probably benign Het
Or1e33 A T 11: 73,738,333 (GRCm39) I206N probably benign Het
Or2d3c A T 7: 106,525,777 (GRCm39) D296E probably benign Het
Or2l13b A T 16: 19,349,167 (GRCm39) C168S probably damaging Het
Or7e175 A T 9: 20,048,871 (GRCm39) N153I probably benign Het
Or9s23 G A 1: 92,501,810 (GRCm39) D306N probably benign Het
Pck1 A G 2: 172,997,743 (GRCm39) T271A possibly damaging Het
Penk A G 4: 4,133,976 (GRCm39) W224R possibly damaging Het
Per2 C A 1: 91,372,481 (GRCm39) V198F probably damaging Het
Phf11d A G 14: 59,599,280 (GRCm39) M23T probably damaging Het
Pla2g4d A G 2: 120,097,211 (GRCm39) V796A probably benign Het
Pramel51 A T 12: 88,143,122 (GRCm39) N360K possibly damaging Het
Prdx6 A T 1: 161,069,428 (GRCm39) probably null Het
Prep A T 10: 44,967,108 (GRCm39) N47I probably damaging Het
Prodh2 A T 7: 30,212,064 (GRCm39) probably null Het
Prss38 G T 11: 59,265,996 (GRCm39) H96N probably damaging Het
Rab11a C A 9: 64,635,613 (GRCm39) E47* probably null Het
Rad18 C T 6: 112,626,798 (GRCm39) G369D probably benign Het
Rragc T C 4: 123,823,717 (GRCm39) V330A probably damaging Het
Serpina9 A T 12: 103,967,680 (GRCm39) H238Q probably benign Het
Serpinb3b T A 1: 107,085,467 (GRCm39) K91N probably damaging Het
Slc16a12 T G 19: 34,652,730 (GRCm39) S139R probably benign Het
Slc22a27 T A 19: 7,887,472 (GRCm39) probably null Het
Slc25a11 A G 11: 70,536,005 (GRCm39) V243A probably benign Het
Slc38a9 A T 13: 112,868,148 (GRCm39) I545F probably benign Het
Slc39a8 A T 3: 135,590,157 (GRCm39) H349L probably damaging Het
Slk C T 19: 47,630,510 (GRCm39) T1227I possibly damaging Het
Spdye4b A G 5: 143,180,609 (GRCm39) E25G possibly damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
St3gal1 A G 15: 66,983,114 (GRCm39) V214A probably benign Het
St7l T A 3: 104,833,893 (GRCm39) M550K probably benign Het
Tbk1 A C 10: 121,388,151 (GRCm39) F638C possibly damaging Het
Tex101 A T 7: 24,369,190 (GRCm39) C114S probably damaging Het
Ttll13 A G 7: 79,905,135 (GRCm39) M384V probably benign Het
Ugt2b37 A T 5: 87,402,189 (GRCm39) D147E probably damaging Het
Vmn1r10 A T 6: 57,090,686 (GRCm39) T93S probably benign Het
Wasl G A 6: 24,619,396 (GRCm39) P375S unknown Het
Zfp236 C A 18: 82,692,481 (GRCm39) E165* probably null Het
Zfp839 A T 12: 110,822,060 (GRCm39) R291S probably 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
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
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'- TTCTTGGTCCCAGACTGCAC -3'
(R):5'- TGGAATCCAAACTCAGGTCCATC -3'

Sequencing Primer
(F):5'- AGACTGCACCGCTTTGAG -3'
(R):5'- AAACTCAGGTCCATCTATTTCCAGGG -3'
Posted On 2019-12-20