Incidental Mutation 'R1974:Notch2'
ID 221371
Institutional Source Beutler Lab
Gene Symbol Notch2
Ensembl Gene ENSMUSG00000027878
Gene Name notch 2
Synonyms Motch B, N2
MMRRC Submission 039987-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1974 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 97920854-98057683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 97980071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 195 (G195D)
Ref Sequence ENSEMBL: ENSMUSP00000078741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079812]
AlphaFold O35516
Predicted Effect probably damaging
Transcript: ENSMUST00000079812
AA Change: G195D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: G195D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198324
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,028 (GRCm39) L739Q probably damaging Het
4933436I01Rik A T X: 66,963,655 (GRCm39) Y401* probably null Het
Abcg3 A G 5: 105,111,504 (GRCm39) V321A probably benign Het
Acad10 C A 5: 121,764,248 (GRCm39) V894L possibly damaging Het
Adam9 A G 8: 25,482,240 (GRCm39) I255T probably damaging Het
Ago3 T C 4: 126,240,544 (GRCm39) Y785C probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Akap4 A G X: 6,943,595 (GRCm39) S633G probably benign Het
Alox15 T A 11: 70,240,799 (GRCm39) T194S probably benign Het
Amh T C 10: 80,642,250 (GRCm39) S207P probably benign Het
Apc T A 18: 34,433,057 (GRCm39) C415S possibly damaging Het
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Atp5mf A T 5: 145,121,389 (GRCm39) L64Q probably damaging Het
Barhl2 C G 5: 106,605,179 (GRCm39) E177Q probably benign Het
C1qtnf5 T C 9: 44,020,072 (GRCm39) V232A probably damaging Het
Calr T C 8: 85,570,786 (GRCm39) I290V probably benign Het
Cdh19 G C 1: 110,817,889 (GRCm39) Q618E possibly damaging Het
Celsr2 G T 3: 108,321,530 (GRCm39) D427E probably damaging Het
Cep250 T C 2: 155,831,424 (GRCm39) S1294P probably damaging Het
Chrna7 T A 7: 62,749,034 (GRCm39) T483S probably damaging Het
Clmn A T 12: 104,758,121 (GRCm39) W132R probably damaging Het
Cpsf2 G A 12: 101,956,306 (GRCm39) D370N probably benign Het
Crnn T C 3: 93,056,594 (GRCm39) V460A probably benign Het
Daam1 T A 12: 72,035,703 (GRCm39) I957N probably damaging Het
Defb9 T C 8: 22,371,905 (GRCm39) K36R probably benign Het
Dock10 T A 1: 80,488,143 (GRCm39) I2007F possibly damaging Het
Dpm1 A T 2: 168,059,667 (GRCm39) V143D probably damaging Het
Dync1h1 T C 12: 110,592,166 (GRCm39) V1110A possibly damaging Het
Erlec1 T G 11: 30,889,604 (GRCm39) K373N possibly damaging Het
Fbxo40 C T 16: 36,790,303 (GRCm39) G269E probably benign Het
Fbxw7 T A 3: 84,862,242 (GRCm39) C70S possibly damaging Het
Fhip2a T C 19: 57,373,809 (GRCm39) F690L probably damaging Het
Fnbp1 G T 2: 30,943,059 (GRCm39) R280S probably null Het
Gapvd1 G A 2: 34,590,853 (GRCm39) R940C probably damaging Het
Gfod2 T C 8: 106,444,142 (GRCm39) K134E possibly damaging Het
Gpi1 A T 7: 33,920,228 (GRCm39) probably null Het
Grik2 A T 10: 49,008,923 (GRCm39) N721K possibly damaging Het
Gsn G T 2: 35,191,483 (GRCm39) G455V probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Inf2 A G 12: 112,574,771 (GRCm39) T781A unknown Het
Iscu A G 5: 113,915,079 (GRCm39) probably benign Het
Kcna4 G A 2: 107,126,565 (GRCm39) G433D possibly damaging Het
Kir3dl2 T A X: 135,357,024 (GRCm39) N146I probably benign Het
Klrg1 T A 6: 122,259,721 (GRCm39) Q17L possibly damaging Het
Krt82 T G 15: 101,453,597 (GRCm39) Q263P probably benign Het
Mfrp T C 9: 44,017,669 (GRCm39) C554R probably damaging Het
Minar1 T G 9: 89,483,256 (GRCm39) T714P probably damaging Het
Mst1r T C 9: 107,791,962 (GRCm39) Y833H probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nipal4 T C 11: 46,042,210 (GRCm39) N157S probably damaging Het
Nrcam A T 12: 44,610,776 (GRCm39) H492L probably benign Het
Or10aa1 A T 1: 173,870,154 (GRCm39) I213F probably damaging Het
Or4p21 A T 2: 88,276,853 (GRCm39) I143N probably damaging Het
Papln G A 12: 83,828,811 (GRCm39) R817H probably damaging Het
Pcnx2 T C 8: 126,614,110 (GRCm39) E447G probably benign Het
Pdp2 T C 8: 105,320,538 (GRCm39) V129A probably benign Het
Plch2 A G 4: 155,069,410 (GRCm39) F1072S possibly damaging Het
Prag1 T A 8: 36,570,081 (GRCm39) D221E probably damaging Het
Prkg1 T C 19: 31,563,095 (GRCm39) D102G probably damaging Het
Psme4 T A 11: 30,769,011 (GRCm39) D662E probably benign Het
Ptprn T C 1: 75,231,464 (GRCm39) probably null Het
Ptprz1 A G 6: 22,986,310 (GRCm39) D370G probably damaging Het
Qser1 A G 2: 104,590,886 (GRCm39) S1637P probably damaging Het
Sema6a T A 18: 47,403,696 (GRCm39) H642L probably benign Het
Slc30a5 A T 13: 100,950,461 (GRCm39) F209I probably benign Het
Slc4a3 G T 1: 75,528,835 (GRCm39) E508* probably null Het
Stpg2 C T 3: 139,014,944 (GRCm39) R370* probably null Het
Tas2r113 T A 6: 132,870,796 (GRCm39) F275I probably benign Het
Tmem132d T G 5: 128,346,263 (GRCm39) K86N probably damaging Het
Tpgs2 A T 18: 25,273,593 (GRCm39) F189L probably damaging Het
Trmt6 A G 2: 132,652,968 (GRCm39) S104P probably damaging Het
Trpv3 T C 11: 73,174,514 (GRCm39) S294P probably damaging Het
Ugt2b36 A G 5: 87,228,727 (GRCm39) probably null Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r107 T A 17: 20,575,879 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A 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
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'- TCCTTTAGGGAAGCAGTGTCAG -3'
(R):5'- ACCTTCATCCTGAGGTTGGTTTAC -3'

Sequencing Primer
(F):5'- GTCAGTGGACAGATGCCTG -3'
(R):5'- AAGAGAGAGCTCCTCACCTGG -3'
Posted On 2014-08-25