Incidental Mutation 'R0111:Notch2'
ID 20437
Institutional Source Beutler Lab
Gene Symbol Notch2
Ensembl Gene ENSMUSG00000027878
Gene Name notch 2
Synonyms Motch B, N2
MMRRC Submission 038397-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0111 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 3
Chromosomal Location 97920854-98057683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98046077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1710 (F1710L)
Ref Sequence ENSEMBL: ENSMUSP00000078741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079812]
AlphaFold O35516
Predicted Effect probably benign
Transcript: ENSMUST00000079812
AA Change: F1710L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: F1710L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.8%
Validation Efficiency 100% (65/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A T 17: 56,124,073 (GRCm39) H491L possibly damaging Het
Adgrg3 T C 8: 95,761,738 (GRCm39) probably benign Het
Arhgap5 T C 12: 52,606,743 (GRCm39) probably benign Het
Asic1 T C 15: 99,594,864 (GRCm39) Y334H probably damaging Het
Calcr T A 6: 3,717,157 (GRCm39) D101V probably damaging Het
Cdh2 A T 18: 16,907,566 (GRCm39) N57K probably benign Het
Clec4d C A 6: 123,245,006 (GRCm39) Y95* probably null Het
Cracr2a A G 6: 127,581,024 (GRCm39) T67A probably benign Het
Dennd5a A T 7: 109,533,961 (GRCm39) V53D probably damaging Het
Dnah7a T C 1: 53,507,843 (GRCm39) D3076G probably benign Het
Espnl T C 1: 91,272,464 (GRCm39) M608T probably benign Het
Fam149a C T 8: 45,794,183 (GRCm39) probably benign Het
Flnc T C 6: 29,454,339 (GRCm39) V1884A probably damaging Het
Helz2 A C 2: 180,879,595 (GRCm39) S674R probably benign Het
Hoxa2 T G 6: 52,141,467 (GRCm39) probably null Het
Ifi47 T A 11: 48,986,897 (GRCm39) N221K probably damaging Het
Ipo9 A G 1: 135,333,662 (GRCm39) V340A probably damaging Het
Kalrn A T 16: 33,851,960 (GRCm39) N373K probably damaging Het
Kif26a T C 12: 112,129,771 (GRCm39) probably benign Het
Kiss1r A G 10: 79,754,523 (GRCm39) T6A possibly damaging Het
Lama1 A T 17: 68,044,493 (GRCm39) I131F probably damaging Het
Nefm T C 14: 68,361,991 (GRCm39) D91G probably benign Het
Nos3 C T 5: 24,577,702 (GRCm39) T572I probably damaging Het
Or13e8 T C 4: 43,696,648 (GRCm39) N175S probably damaging Het
Or6c6c T A 10: 129,541,146 (GRCm39) I133N probably damaging Het
Ostm1 T C 10: 42,555,254 (GRCm39) L92P probably damaging Het
Pcdh15 T A 10: 74,462,651 (GRCm39) Y1445* probably null Het
Pde1b T C 15: 103,411,940 (GRCm39) S14P probably benign Het
Pitpna T C 11: 75,516,310 (GRCm39) V265A probably benign Het
Plec G T 15: 76,062,846 (GRCm39) T2476K probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Ppp3cc C T 14: 70,493,808 (GRCm39) probably null Het
Prss36 A G 7: 127,533,717 (GRCm39) L530P probably damaging Het
Ptpn13 T C 5: 103,728,629 (GRCm39) probably benign Het
Ptpn23 T C 9: 110,214,691 (GRCm39) D1570G probably damaging Het
Rab42 T C 4: 132,029,676 (GRCm39) D182G possibly damaging Het
Rbm27 T A 18: 42,438,737 (GRCm39) probably benign Het
Rp1 T C 1: 4,414,983 (GRCm39) E2043G probably damaging Het
Rufy3 C T 5: 88,778,443 (GRCm39) S341F probably damaging Het
Samd9l C T 6: 3,374,946 (GRCm39) V772I possibly damaging Het
Scaper A G 9: 55,510,074 (GRCm39) M654T probably benign Het
Shld2 T C 14: 33,989,686 (GRCm39) K407E probably damaging Het
Sipa1l3 G A 7: 29,047,743 (GRCm39) P333S probably damaging Het
Slc30a10 C A 1: 185,187,744 (GRCm39) R162S probably benign Het
Spryd3 A T 15: 102,036,972 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,166 (GRCm39) F66L probably benign Het
Tent5c T C 3: 100,380,102 (GRCm39) D218G probably damaging Het
Thap2 T C 10: 115,208,532 (GRCm39) N196S probably benign Het
Themis2 C A 4: 132,517,236 (GRCm39) R88L probably benign Het
Trip12 A T 1: 84,736,854 (GRCm39) probably benign Het
Ube3b T A 5: 114,528,437 (GRCm39) probably benign Het
Usp20 T A 2: 30,892,624 (GRCm39) H64Q probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r15 T C 5: 109,435,022 (GRCm39) R561G possibly damaging Het
Vsig10l A G 7: 43,117,525 (GRCm39) D604G probably damaging Het
Wdr90 A G 17: 26,067,418 (GRCm39) probably benign Het
Xirp2 A T 2: 67,338,722 (GRCm39) N321I probably damaging Het
Zfp595 A G 13: 67,468,984 (GRCm39) F11S possibly damaging Het
Zfp953 T A 13: 67,491,139 (GRCm39) H271L probably damaging 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
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
R7562:Notch2 UTSW 3 98,020,430 (GRCm39) missense probably damaging 1.00
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'- TCGACAACCGACAGTGTGTTCAAG -3'
(R):5'- GCTGTGGTCAAGGTGACTAAAGGTG -3'

Sequencing Primer
(F):5'- CCGACAGTGTGTTCAAGATTCAG -3'
(R):5'- TTCTCCCTGTGAACTGTGTC -3'
Posted On 2013-04-11