Incidental Mutation 'R6502:Notch3'
ID 519825
Institutional Source Beutler Lab
Gene Symbol Notch3
Ensembl Gene ENSMUSG00000038146
Gene Name notch 3
Synonyms hpbk, N3
MMRRC Submission 044634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6502 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 32339794-32385826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32377191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 267 (W267R)
Ref Sequence ENSEMBL: ENSMUSP00000085016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087723]
AlphaFold Q61982
Predicted Effect probably damaging
Transcript: ENSMUST00000087723
AA Change: W267R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: W267R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,333,908 (GRCm39) I24K probably benign Het
Adamts9 A T 6: 92,849,316 (GRCm39) C467S probably damaging Het
Adcy7 G A 8: 89,052,107 (GRCm39) R925Q probably damaging Het
Akap6 G A 12: 53,186,998 (GRCm39) G1471S probably damaging Het
Ap2b1 T C 11: 83,233,505 (GRCm39) V506A probably damaging Het
Apob A G 12: 8,051,814 (GRCm39) I1113M probably damaging Het
Arsg A T 11: 109,408,162 (GRCm39) N105Y probably damaging Het
Blm T A 7: 80,131,223 (GRCm39) Y872F probably damaging Het
Btaf1 A T 19: 36,961,017 (GRCm39) N797Y probably benign Het
Camsap1 T C 2: 25,846,320 (GRCm39) E201G probably damaging Het
Ccdc122 T A 14: 77,279,509 (GRCm39) probably null Homo
Ccdc141 A G 2: 77,000,745 (GRCm39) V29A probably damaging Het
Cd244a T A 1: 171,405,447 (GRCm39) D277E probably benign Het
Cfap157 T C 2: 32,670,690 (GRCm39) Y186C probably damaging Het
Ciita C T 16: 10,329,774 (GRCm39) A686V probably damaging Het
Clptm1l T C 13: 73,765,884 (GRCm39) probably null Het
Col16a1 C T 4: 129,949,787 (GRCm39) P50L probably damaging Het
Crisp3 A T 17: 40,546,804 (GRCm39) V38D probably damaging Het
Cyfip2 T C 11: 46,112,173 (GRCm39) E1010G probably damaging Het
Dvl3 G A 16: 20,346,133 (GRCm39) E488K probably damaging Het
Eed C A 7: 89,626,237 (GRCm39) E45D probably benign Het
Eln A G 5: 134,754,628 (GRCm39) probably benign Het
Fah T A 7: 84,244,043 (GRCm39) I239F probably damaging Het
Fbxw5 T A 2: 25,392,448 (GRCm39) Y77N possibly damaging Het
Garnl3 T C 2: 32,896,833 (GRCm39) E602G possibly damaging Het
Gkn3 A T 6: 87,365,786 (GRCm39) M11K probably benign Het
Glt1d1 A G 5: 127,784,045 (GRCm39) Y333C probably damaging Het
Gm10762 A T 2: 128,809,090 (GRCm39) Y86* probably null Het
Gm14496 A G 2: 181,642,386 (GRCm39) M686V probably benign Het
Gse1 T A 8: 121,280,428 (GRCm39) probably null Het
Herc4 C A 10: 63,153,197 (GRCm39) T1035K probably benign Het
Hmcn2 T A 2: 31,272,490 (GRCm39) N1323K probably damaging Het
Hnrnpd T A 5: 100,114,025 (GRCm39) E3D probably damaging Het
Htr7 T A 19: 35,947,010 (GRCm39) I335F probably damaging Het
Ift70b T A 2: 75,767,448 (GRCm39) N435I possibly damaging Het
Itgae A T 11: 73,036,418 (GRCm39) I1119F probably benign Het
Lcn11 T C 2: 25,669,103 (GRCm39) F137S probably benign Het
Lrp3 T G 7: 34,903,413 (GRCm39) D311A possibly damaging Het
Lrrc1 G T 9: 77,349,473 (GRCm39) D364E probably damaging Het
Lrrc37a T A 11: 103,383,005 (GRCm39) E2456V unknown Het
Lrriq1 T C 10: 103,063,045 (GRCm39) Y87C probably damaging Het
Mcc A T 18: 44,601,457 (GRCm39) L449* probably null Het
Mcc A T 18: 44,601,458 (GRCm39) L624M probably damaging Het
Mcm9 T C 10: 53,488,935 (GRCm39) T496A probably damaging Het
Myef2 T A 2: 124,958,602 (GRCm39) D109V probably damaging Het
Myom3 C T 4: 135,489,824 (GRCm39) probably benign Het
Nanos1 G T 19: 60,744,977 (GRCm39) G92W possibly damaging Het
Ncor1 T A 11: 62,272,240 (GRCm39) K84* probably null Het
Neb T A 2: 52,181,094 (GRCm39) D1171V probably benign Het
Or5d39 A T 2: 87,980,360 (GRCm39) M1K probably null Het
Or8d1 A C 9: 38,766,933 (GRCm39) T192P probably damaging Het
Per2 A G 1: 91,355,485 (GRCm39) S758P probably benign Het
Pi4k2a A G 19: 42,079,371 (GRCm39) Q144R probably benign Het
Pirb A T 7: 3,720,392 (GRCm39) V327E probably benign Het
Pla2g4a C T 1: 149,748,367 (GRCm39) W272* probably null Het
Plekha4 T A 7: 45,180,000 (GRCm39) M1K probably null Het
Ppt2 A G 17: 34,844,894 (GRCm39) C117R probably damaging Het
Prph A T 15: 98,954,267 (GRCm39) I222F probably damaging Het
Rbm43 T C 2: 51,815,588 (GRCm39) D211G probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Rnf123 G T 9: 107,945,531 (GRCm39) Q380K possibly damaging Het
Rnf145 T C 11: 44,415,932 (GRCm39) F49S probably damaging Het
Sall4 A G 2: 168,597,628 (GRCm39) I404T probably damaging Het
Slc25a39 G A 11: 102,295,286 (GRCm39) P228L probably damaging Het
Tbc1d14 T C 5: 36,677,825 (GRCm39) T377A possibly damaging Het
Tbc1d17 A G 7: 44,491,049 (GRCm39) I555T probably benign Het
Tmem131l A T 3: 83,829,715 (GRCm39) S980T probably damaging Het
Tmem14a G T 1: 21,299,662 (GRCm39) L97F possibly damaging Het
Tmem98 T C 11: 80,703,461 (GRCm39) V26A probably benign Het
Tmppe G T 9: 114,234,720 (GRCm39) G340W probably damaging Het
Tsc1 T C 2: 28,555,613 (GRCm39) S237P probably damaging Het
Ubr4 C T 4: 139,171,982 (GRCm39) R2992W probably damaging Het
Ugt2a2 A G 5: 87,608,318 (GRCm39) V673A possibly damaging Het
Vmn2r19 T C 6: 123,293,067 (GRCm39) Y370H possibly damaging Het
Vmn2r20 A G 6: 123,373,342 (GRCm39) F500S possibly damaging Het
Zc3h7b A G 15: 81,653,252 (GRCm39) Y47C probably benign Het
Zdhhc13 A G 7: 48,465,308 (GRCm39) E406G possibly damaging Het
Zfp418 T C 7: 7,185,599 (GRCm39) S521P 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
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'- CCAGTAGGTTGAAGCAGGTACC -3'
(R):5'- TCACATATGACTGTGCTTGCC -3'

Sequencing Primer
(F):5'- TTGAAGCAGGTACCCCCATTGTG -3'
(R):5'- CCTGGTAAGTAAGTTGTGCCCAG -3'
Posted On 2018-06-06