Incidental Mutation 'R8136:Notch2'
ID 632247
Institutional Source Beutler Lab
Gene Symbol Notch2
Ensembl Gene ENSMUSG00000027878
Gene Name notch 2
Synonyms Motch B, N2
MMRRC Submission 067564-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8136 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 97920854-98057683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98031537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 1137 (C1137Y)
Ref Sequence ENSEMBL: ENSMUSP00000078741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079812]
AlphaFold O35516
Predicted Effect probably damaging
Transcript: ENSMUST00000079812
AA Change: C1137Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: C1137Y

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: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.7%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,287,556 (GRCm39) M2462L probably benign Het
Aptx A G 4: 40,688,107 (GRCm39) probably null Het
Bmpr1b A G 3: 141,562,143 (GRCm39) I348T probably damaging Het
Btnl1 T A 17: 34,599,014 (GRCm39) probably null Het
Col27a1 T A 4: 63,202,190 (GRCm39) D960E probably benign Het
Crygn G T 5: 24,956,090 (GRCm39) R172S probably benign Het
Cyp26a1 T C 19: 37,689,654 (GRCm39) I450T probably benign Het
Emc2 A G 15: 43,375,202 (GRCm39) Y233C probably benign Het
Esyt2 C A 12: 116,327,079 (GRCm39) T549K probably benign Het
Garin5a T C 7: 44,149,704 (GRCm39) F142L probably damaging Het
Gatm T C 2: 122,426,018 (GRCm39) D411G probably damaging Het
Gpr65 T C 12: 98,241,415 (GRCm39) Y23H probably damaging Het
Itpr1 A G 6: 108,415,321 (GRCm39) R1752G probably benign Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,518,660 (GRCm39) probably benign Het
Map3k19 A C 1: 127,751,492 (GRCm39) S620A probably damaging Het
Mcm9 A G 10: 53,487,439 (GRCm39) *543Q probably null Het
Mfsd2a A T 4: 122,845,660 (GRCm39) C164S probably benign Het
Mta1 C A 12: 113,095,298 (GRCm39) R484S probably damaging Het
Nlrp9a T G 7: 26,256,678 (GRCm39) F99V probably benign Het
Or51a6 A T 7: 102,604,448 (GRCm39) M120K probably damaging Het
Pcnx1 A G 12: 81,964,780 (GRCm39) T316A probably benign Het
Peds1 A C 2: 167,486,879 (GRCm39) Y167D probably benign Het
Phf11a A G 14: 59,515,018 (GRCm39) V221A probably benign Het
Pigb A G 9: 72,929,602 (GRCm39) L327P possibly damaging Het
Rab3c A T 13: 110,317,554 (GRCm39) Y110* probably null Het
Sdk2 G A 11: 113,742,539 (GRCm39) T790M probably damaging Het
Skic3 A G 13: 76,261,222 (GRCm39) K131R probably benign Het
Slc22a2 C T 17: 12,824,917 (GRCm39) P260S probably damaging Het
Sppl2a T C 2: 126,755,201 (GRCm39) probably null Het
Tnn T A 1: 159,934,630 (GRCm39) Q1261L probably damaging Het
Treml4 C A 17: 48,571,745 (GRCm39) Y49* probably null Het
Ubr3 T C 2: 69,851,523 (GRCm39) I1827T probably damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Wls C A 3: 159,578,761 (GRCm39) Q108K probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp39 A T 11: 58,782,228 (GRCm39) V178D probably damaging Het
Zfp777 C A 6: 48,021,559 (GRCm39) R21L 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
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
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'- TGAAGCAAACCCTAGAGCAG -3'
(R):5'- CTGGCTGCAAACACTATGATAAGG -3'

Sequencing Primer
(F):5'- TAGAGCAGCCACCAGCCAG -3'
(R):5'- GGACGAGTAGACATTCATACTCTG -3'
Posted On 2020-06-30