Incidental Mutation 'R7562:Notch2'
ID 585178
Institutional Source Beutler Lab
Gene Symbol Notch2
Ensembl Gene ENSMUSG00000027878
Gene Name notch 2
Synonyms Motch B, N2
MMRRC Submission 045627-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7562 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 97920854-98057683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98020430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 775 (L775P)
Ref Sequence ENSEMBL: ENSMUSP00000078741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079812]
AlphaFold O35516
Predicted Effect probably damaging
Transcript: ENSMUST00000079812
AA Change: L775P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: L775P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 27 63 5.79e-2 SMART
EGF 67 102 1.54e-6 SMART
EGF 108 143 6.25e-7 SMART
EGF 147 180 5.28e-5 SMART
EGF_CA 182 219 6.14e-15 SMART
EGF 224 258 5.08e-7 SMART
EGF_CA 260 296 1.95e-8 SMART
EGF_CA 298 336 3.91e-8 SMART
EGF_CA 338 374 7.69e-7 SMART
EGF 378 413 6.86e-4 SMART
EGF_CA 415 454 4.15e-12 SMART
EGF_CA 456 492 3.24e-14 SMART
EGF_CA 494 530 4.77e-12 SMART
EGF_CA 532 568 2.04e-11 SMART
EGF_CA 570 605 1.18e-7 SMART
EGF_CA 607 643 7.12e-11 SMART
EGF_CA 645 680 1.82e-8 SMART
EGF_CA 682 718 1.42e-10 SMART
EGF_CA 720 755 1.25e-6 SMART
EGF_CA 757 793 3.61e-12 SMART
EGF_CA 795 831 1.53e-10 SMART
EGF 836 871 1.34e-6 SMART
EGF_CA 873 909 6.05e-14 SMART
EGF_CA 911 947 9.54e-12 SMART
EGF_CA 949 985 1.39e-13 SMART
EGF_CA 987 1023 1.26e-11 SMART
EGF_CA 1025 1061 9.31e-15 SMART
EGF 1066 1099 1.39e-4 SMART
EGF 1104 1147 2.6e-4 SMART
EGF_CA 1149 1185 1.55e-11 SMART
EGF_CA 1187 1223 2.74e-12 SMART
EGF_CA 1225 1262 4.15e-12 SMART
EGF 1267 1302 1.43e-1 SMART
EGF 1307 1343 2.33e-6 SMART
EGF 1377 1412 9.85e-5 SMART
NL 1418 1456 8.55e-19 SMART
NL 1459 1497 2.27e-14 SMART
NL 1498 1535 1.16e-11 SMART
NOD 1539 1595 3.4e-28 SMART
NODP 1619 1679 1.66e-22 SMART
transmembrane domain 1680 1702 N/A INTRINSIC
ANK 1828 1872 2.18e2 SMART
ANK 1877 1906 3.36e-2 SMART
ANK 1910 1940 1.81e2 SMART
ANK 1944 1973 6.61e-1 SMART
ANK 1977 2006 5.24e-4 SMART
ANK 2010 2039 3.41e-3 SMART
low complexity region 2179 2193 N/A INTRINSIC
low complexity region 2232 2241 N/A INTRINSIC
DUF3454 2382 2447 4.62e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in embryonic or neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,030,563 (GRCm39) T544M probably benign Het
Adamts12 A G 15: 11,270,697 (GRCm39) R651G probably benign Het
Adck1 G A 12: 88,335,203 (GRCm39) D30N possibly damaging Het
Alcam T A 16: 52,089,186 (GRCm39) I505F probably benign Het
Alms1 T C 6: 85,597,394 (GRCm39) L740P probably damaging Het
Ankib1 C T 5: 3,797,021 (GRCm39) D264N probably null Het
Arid2 T G 15: 96,299,849 (GRCm39) H1787Q probably damaging Het
Asf1a C T 10: 53,482,283 (GRCm39) R102* probably null Het
Atp2b1 C A 10: 98,858,667 (GRCm39) probably null Het
Bdp1 T C 13: 100,162,049 (GRCm39) D2291G probably benign Het
Bnip5 T C 17: 29,128,778 (GRCm39) D45G probably benign Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Catsperg2 A G 7: 29,397,144 (GRCm39) F1120L probably benign Het
Ccdc80 C T 16: 44,943,266 (GRCm39) A792V probably damaging Het
Cdcp3 T A 7: 130,904,426 (GRCm39) D2381E unknown Het
Cenpe C T 3: 134,954,395 (GRCm39) R1751W probably damaging Het
Cenpm T C 15: 82,125,562 (GRCm39) I66V probably benign Het
Clcn4 A G 7: 7,298,081 (GRCm39) W103R possibly damaging Het
Cntn2 T C 1: 132,454,055 (GRCm39) D317G possibly damaging Het
Cwf19l1 G A 19: 44,117,680 (GRCm39) T154M probably damaging Het
Cyp2a4 T A 7: 26,012,321 (GRCm39) M368K possibly damaging Het
Dars1 A G 1: 128,294,763 (GRCm39) S413P possibly damaging Het
Dscc1 A G 15: 54,947,581 (GRCm39) Y200H probably benign Het
Dsn1 A T 2: 156,842,792 (GRCm39) D183E probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fancc A T 13: 63,550,867 (GRCm39) probably null Het
Fbxo34 T A 14: 47,767,135 (GRCm39) M216K probably benign Het
Fer1l6 T G 15: 58,432,331 (GRCm39) S293A probably benign Het
Foxn1 T A 11: 78,261,958 (GRCm39) E137V probably damaging Het
Fshr A C 17: 89,295,925 (GRCm39) F261V probably damaging Het
Gabrb3 C T 7: 57,461,926 (GRCm39) R153* probably null Het
Garin1b T C 6: 29,323,833 (GRCm39) V186A probably damaging Het
Gps2 C A 11: 69,807,308 (GRCm39) N321K probably benign Het
Hdgf T C 3: 87,813,993 (GRCm39) M20T possibly damaging Het
Igdcc4 G T 9: 65,031,306 (GRCm39) A415S probably damaging Het
Kif26b A G 1: 178,742,541 (GRCm39) E879G probably damaging Het
Krt13 T C 11: 100,010,162 (GRCm39) Y273C probably damaging Het
Mab21l4 C A 1: 93,087,689 (GRCm39) V55F probably damaging Het
Mag A G 7: 30,608,559 (GRCm39) V185A possibly damaging Het
Map3k21 C T 8: 126,665,539 (GRCm39) T576M probably damaging Het
Mtcl2 A C 2: 156,895,509 (GRCm39) L332R probably damaging Het
Mtrr A G 13: 68,714,336 (GRCm39) F468L probably damaging Het
Myb C T 10: 21,017,653 (GRCm39) probably null Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nckap5l A T 15: 99,321,166 (GRCm39) probably null Het
Nop9 C T 14: 55,986,809 (GRCm39) R240W probably benign Het
Or13a27 T C 7: 139,925,143 (GRCm39) Y253C probably damaging Het
Or4c116 C T 2: 88,942,629 (GRCm39) V76I probably benign Het
Or55b10 T A 7: 102,143,227 (GRCm39) I252F possibly damaging Het
Or7a40 T C 16: 16,491,579 (GRCm39) N89D probably benign Het
Or8c9 A G 9: 38,241,239 (GRCm39) T116A probably damaging Het
Oxa1l T A 14: 54,600,934 (GRCm39) W136R probably damaging Het
Palm3 T A 8: 84,748,136 (GRCm39) V7E possibly damaging Het
Pkhd1l1 C G 15: 44,378,326 (GRCm39) R1027G possibly damaging Het
Prickle2 A T 6: 92,352,929 (GRCm39) *902K probably null Het
Rassf7 C T 7: 140,797,101 (GRCm39) R105* probably null Het
Septin9 T C 11: 117,217,337 (GRCm39) probably null Het
Sorbs3 T C 14: 70,444,976 (GRCm39) N34S probably benign Het
Sos2 T C 12: 69,682,412 (GRCm39) T269A probably benign Het
Spata20 T G 11: 94,373,379 (GRCm39) K497N probably benign Het
Speg A G 1: 75,407,923 (GRCm39) D3206G probably damaging Het
Tenm4 A G 7: 96,538,021 (GRCm39) T1865A probably damaging Het
Tmc5 A T 7: 118,222,549 (GRCm39) Y83F probably benign Het
Tmem175 T A 5: 108,789,715 (GRCm39) D103E probably damaging Het
Top2b A C 14: 16,412,946 (GRCm38) M952L probably benign Het
Vmn2r6 T C 3: 64,463,941 (GRCm39) I298V probably benign Het
Vmn2r69 T C 7: 85,056,420 (GRCm39) I573V probably benign Het
Vmn2r93 A G 17: 18,518,731 (GRCm39) I63M probably benign Het
Zfp568 G A 7: 29,722,681 (GRCm39) R542H probably benign Het
Other mutations in Notch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Notch2 APN 3 98,018,991 (GRCm39) missense possibly damaging 0.77
IGL01517:Notch2 APN 3 98,045,971 (GRCm39) missense probably benign 0.16
IGL01630:Notch2 APN 3 98,053,934 (GRCm39) missense possibly damaging 0.77
IGL01637:Notch2 APN 3 98,053,376 (GRCm39) missense probably damaging 1.00
IGL01828:Notch2 APN 3 97,979,929 (GRCm39) missense probably damaging 1.00
IGL01998:Notch2 APN 3 98,050,422 (GRCm39) missense probably damaging 1.00
IGL02008:Notch2 APN 3 98,054,612 (GRCm39) missense probably damaging 1.00
IGL02030:Notch2 APN 3 98,006,737 (GRCm39) splice site probably null
IGL02155:Notch2 APN 3 98,045,806 (GRCm39) missense probably damaging 0.98
IGL02268:Notch2 APN 3 98,044,713 (GRCm39) missense probably damaging 1.00
IGL02301:Notch2 APN 3 98,048,870 (GRCm39) missense probably benign 0.08
IGL02336:Notch2 APN 3 98,045,711 (GRCm39) missense possibly damaging 0.73
IGL02340:Notch2 APN 3 98,054,652 (GRCm39) nonsense probably null
IGL02536:Notch2 APN 3 98,009,723 (GRCm39) missense probably benign 0.03
IGL02589:Notch2 APN 3 98,011,663 (GRCm39) critical splice acceptor site probably null
IGL02633:Notch2 APN 3 98,024,013 (GRCm39) splice site probably benign
IGL02691:Notch2 APN 3 98,042,923 (GRCm39) nonsense probably null
IGL02832:Notch2 APN 3 98,044,689 (GRCm39) missense probably benign 0.12
IGL02894:Notch2 APN 3 98,009,748 (GRCm39) nonsense probably null
IGL02902:Notch2 APN 3 98,018,890 (GRCm39) missense probably damaging 1.00
IGL02967:Notch2 APN 3 98,053,460 (GRCm39) missense probably damaging 0.99
IGL03015:Notch2 APN 3 97,979,965 (GRCm39) missense possibly damaging 0.83
PIT4378001:Notch2 UTSW 3 98,050,272 (GRCm39) missense probably damaging 1.00
PIT4519001:Notch2 UTSW 3 98,005,424 (GRCm39) missense probably damaging 1.00
PIT4581001:Notch2 UTSW 3 98,011,778 (GRCm39) missense probably damaging 1.00
R0111:Notch2 UTSW 3 98,046,077 (GRCm39) missense probably benign 0.00
R0129:Notch2 UTSW 3 98,053,936 (GRCm39) missense probably benign 0.08
R0143:Notch2 UTSW 3 98,053,433 (GRCm39) missense probably damaging 0.99
R0480:Notch2 UTSW 3 98,053,853 (GRCm39) missense possibly damaging 0.88
R0523:Notch2 UTSW 3 98,018,914 (GRCm39) missense probably benign 0.00
R0523:Notch2 UTSW 3 97,978,286 (GRCm39) missense probably benign 0.34
R0531:Notch2 UTSW 3 98,009,767 (GRCm39) splice site probably benign
R0537:Notch2 UTSW 3 98,024,057 (GRCm39) missense possibly damaging 0.70
R0987:Notch2 UTSW 3 98,041,993 (GRCm39) splice site probably null
R1485:Notch2 UTSW 3 98,007,573 (GRCm39) missense probably benign 0.00
R1555:Notch2 UTSW 3 98,038,656 (GRCm39) missense possibly damaging 0.93
R1625:Notch2 UTSW 3 98,018,891 (GRCm39) missense probably damaging 1.00
R1699:Notch2 UTSW 3 98,052,443 (GRCm39) missense probably damaging 1.00
R1765:Notch2 UTSW 3 98,029,242 (GRCm39) missense probably damaging 1.00
R1794:Notch2 UTSW 3 98,006,863 (GRCm39) missense possibly damaging 0.53
R1974:Notch2 UTSW 3 97,980,071 (GRCm39) missense probably damaging 1.00
R2086:Notch2 UTSW 3 98,009,683 (GRCm39) missense probably damaging 1.00
R2099:Notch2 UTSW 3 98,022,637 (GRCm39) missense possibly damaging 0.79
R3778:Notch2 UTSW 3 98,053,939 (GRCm39) missense probably damaging 1.00
R3924:Notch2 UTSW 3 98,029,350 (GRCm39) nonsense probably null
R4018:Notch2 UTSW 3 98,011,881 (GRCm39) missense probably damaging 1.00
R4151:Notch2 UTSW 3 98,054,387 (GRCm39) missense possibly damaging 0.95
R4417:Notch2 UTSW 3 98,038,586 (GRCm39) missense possibly damaging 0.95
R4510:Notch2 UTSW 3 98,053,637 (GRCm39) missense probably benign 0.02
R4511:Notch2 UTSW 3 98,053,637 (GRCm39) missense probably benign 0.02
R4636:Notch2 UTSW 3 98,053,420 (GRCm39) missense probably benign 0.02
R4661:Notch2 UTSW 3 98,042,829 (GRCm39) missense probably damaging 1.00
R4856:Notch2 UTSW 3 98,009,735 (GRCm39) missense probably damaging 1.00
R4886:Notch2 UTSW 3 98,009,735 (GRCm39) missense probably damaging 1.00
R4945:Notch2 UTSW 3 98,019,037 (GRCm39) missense probably benign 0.01
R4970:Notch2 UTSW 3 98,008,952 (GRCm39) critical splice donor site probably null
R4974:Notch2 UTSW 3 98,046,949 (GRCm39) missense probably benign 0.39
R5082:Notch2 UTSW 3 98,007,690 (GRCm39) missense probably damaging 1.00
R5112:Notch2 UTSW 3 98,008,952 (GRCm39) critical splice donor site probably null
R5156:Notch2 UTSW 3 98,031,626 (GRCm39) missense possibly damaging 0.53
R5433:Notch2 UTSW 3 98,033,450 (GRCm39) missense probably damaging 1.00
R5539:Notch2 UTSW 3 98,044,898 (GRCm39) missense probably damaging 0.99
R5813:Notch2 UTSW 3 98,042,744 (GRCm39) missense probably benign
R5827:Notch2 UTSW 3 97,980,178 (GRCm39) missense possibly damaging 0.64
R5908:Notch2 UTSW 3 98,031,239 (GRCm39) intron probably benign
R6021:Notch2 UTSW 3 98,029,288 (GRCm39) missense probably damaging 1.00
R6090:Notch2 UTSW 3 98,042,693 (GRCm39) nonsense probably null
R6103:Notch2 UTSW 3 98,043,059 (GRCm39) missense possibly damaging 0.94
R6111:Notch2 UTSW 3 98,053,609 (GRCm39) missense probably benign 0.00
R6168:Notch2 UTSW 3 98,052,533 (GRCm39) missense probably damaging 1.00
R6382:Notch2 UTSW 3 98,048,859 (GRCm39) missense probably damaging 1.00
R6404:Notch2 UTSW 3 97,989,314 (GRCm39) missense probably damaging 1.00
R6419:Notch2 UTSW 3 98,007,705 (GRCm39) critical splice donor site probably null
R6454:Notch2 UTSW 3 98,044,722 (GRCm39) missense possibly damaging 0.47
R6626:Notch2 UTSW 3 98,008,921 (GRCm39) missense probably damaging 1.00
R6629:Notch2 UTSW 3 98,028,197 (GRCm39) missense possibly damaging 0.65
R6706:Notch2 UTSW 3 98,045,746 (GRCm39) missense possibly damaging 0.94
R6735:Notch2 UTSW 3 98,041,902 (GRCm39) missense probably damaging 1.00
R6837:Notch2 UTSW 3 97,978,170 (GRCm39) splice site probably null
R7021:Notch2 UTSW 3 98,042,762 (GRCm39) missense probably benign
R7028:Notch2 UTSW 3 98,009,703 (GRCm39) missense probably damaging 1.00
R7228:Notch2 UTSW 3 98,044,633 (GRCm39) nonsense probably null
R7320:Notch2 UTSW 3 98,038,643 (GRCm39) missense possibly damaging 0.94
R7361:Notch2 UTSW 3 98,038,718 (GRCm39) missense probably benign 0.04
R7630:Notch2 UTSW 3 98,044,824 (GRCm39) missense possibly damaging 0.65
R7637:Notch2 UTSW 3 98,053,939 (GRCm39) missense probably damaging 1.00
R7748:Notch2 UTSW 3 98,045,800 (GRCm39) missense possibly damaging 0.69
R7764:Notch2 UTSW 3 98,050,304 (GRCm39) missense probably damaging 1.00
R7817:Notch2 UTSW 3 98,014,443 (GRCm39) missense probably damaging 1.00
R7952:Notch2 UTSW 3 98,007,552 (GRCm39) missense probably benign 0.30
R8136:Notch2 UTSW 3 98,031,537 (GRCm39) missense probably damaging 1.00
R8159:Notch2 UTSW 3 98,028,238 (GRCm39) missense possibly damaging 0.95
R8679:Notch2 UTSW 3 98,029,218 (GRCm39) critical splice acceptor site probably null
R8879:Notch2 UTSW 3 98,042,915 (GRCm39) missense possibly damaging 0.73
R9146:Notch2 UTSW 3 98,011,854 (GRCm39) missense probably damaging 1.00
R9398:Notch2 UTSW 3 98,009,668 (GRCm39) missense probably damaging 1.00
R9422:Notch2 UTSW 3 98,054,668 (GRCm39) missense probably damaging 1.00
R9594:Notch2 UTSW 3 98,041,889 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- GGAAAGGTGAAACTGGCTTTC -3'
(R):5'- TCTCTGCTAAGCTGAAAGTAGAAAG -3'

Sequencing Primer
(F):5'- TGAAACTGGCTTTCACCTATCTC -3'
(R):5'- ACATATCTCAGACATACTAACTGCTC -3'
Posted On 2019-10-17