Incidental Mutation 'R2099:Notch2'
ID 233225
Institutional Source Beutler Lab
Gene Symbol Notch2
Ensembl Gene ENSMUSG00000027878
Gene Name notch 2
Synonyms Motch B, N2
MMRRC Submission 040103-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2099 (G1)
Quality Score 106
Status Not validated
Chromosome 3
Chromosomal Location 97920854-98057683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98022637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 819 (C819R)
Ref Sequence ENSEMBL: ENSMUSP00000078741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079812]
AlphaFold O35516
Predicted Effect possibly damaging
Transcript: ENSMUST00000079812
AA Change: C819R

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078741
Gene: ENSMUSG00000027878
AA Change: C819R

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,817,820 (GRCm39) R14Q unknown Het
Aga C A 8: 53,974,166 (GRCm39) Y286* probably null Het
Anks1 T C 17: 28,197,465 (GRCm39) probably null Het
Arih2 A T 9: 108,493,937 (GRCm39) F159I probably damaging Het
Asxl1 A T 2: 153,194,187 (GRCm39) M46L possibly damaging Het
Atp23 G T 10: 126,727,595 (GRCm39) probably null Het
Carmil1 T A 13: 24,357,650 (GRCm39) L66F probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cramp1 A G 17: 25,192,059 (GRCm39) V1027A probably benign Het
Cx3cr1 G A 9: 119,881,339 (GRCm39) A21V probably benign Het
Dcxr A G 11: 120,616,403 (GRCm39) F221S probably damaging Het
Dio2 T C 12: 90,696,597 (GRCm39) *130W probably null Het
Dnah2 T C 11: 69,384,063 (GRCm39) D1051G probably damaging Het
Ehbp1l1 T C 19: 5,768,429 (GRCm39) E958G possibly damaging Het
Eif3a C A 19: 60,752,551 (GRCm39) probably benign Het
Ephb2 T C 4: 136,388,066 (GRCm39) D678G probably damaging Het
Fpr3 G T 17: 18,191,443 (GRCm39) R238L probably damaging Het
Frem3 A G 8: 81,342,488 (GRCm39) S1594G probably benign Het
Gbp4 A C 5: 105,268,947 (GRCm39) L402W probably damaging Het
Gdpd5 T A 7: 99,097,696 (GRCm39) L164Q probably damaging Het
Il4i1 T C 7: 44,487,616 (GRCm39) probably null Het
Kcp G T 6: 29,496,164 (GRCm39) C723* probably null Het
Klhl18 A G 9: 110,284,486 (GRCm39) F2L probably damaging Het
Lepr T A 4: 101,630,185 (GRCm39) D633E probably damaging Het
Lifr A G 15: 7,186,732 (GRCm39) I79V probably benign Het
Mcrs1 A G 15: 99,147,827 (GRCm39) S27P probably benign Het
Mmp3 A G 9: 7,453,672 (GRCm39) D431G probably benign Het
Mtor T A 4: 148,634,649 (GRCm39) Y2423* probably null Het
Ndc80 A T 17: 71,811,773 (GRCm39) D484E probably benign Het
Ndufb8 T A 19: 44,543,749 (GRCm39) probably benign Het
Nmur2 A T 11: 55,931,589 (GRCm39) S41T probably benign Het
Or10d3 A G 9: 39,461,963 (GRCm39) V68A probably benign Het
Or4f7 A G 2: 111,644,177 (GRCm39) I298T probably benign Het
Or6c35 A T 10: 129,169,152 (GRCm39) N134I probably damaging Het
Pheta1 C T 5: 121,991,349 (GRCm39) P237L possibly damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Samd7 T C 3: 30,810,709 (GRCm39) V242A probably benign Het
Sde2 T C 1: 180,693,713 (GRCm39) L401P probably damaging Het
Slc20a1 A G 2: 129,049,758 (GRCm39) D340G probably benign Het
Slc2a5 T A 4: 150,227,634 (GRCm39) Y484* probably null Het
Spata31d1a A G 13: 59,853,885 (GRCm39) L27P probably damaging Het
Sqstm1 T C 11: 50,093,811 (GRCm39) T269A possibly damaging Het
Syne2 T C 12: 76,026,747 (GRCm39) V3525A probably benign Het
Tctn1 G A 5: 122,380,772 (GRCm39) P512L probably damaging Het
Tlr1 A G 5: 65,082,411 (GRCm39) F722S probably damaging Het
Treh A G 9: 44,595,943 (GRCm39) Y376C probably damaging Het
Trim47 T C 11: 115,997,170 (GRCm39) N529S probably damaging Het
Trrap T C 5: 144,719,049 (GRCm39) V184A possibly damaging Het
Tyrp1 T A 4: 80,753,616 (GRCm39) N102K possibly damaging Het
Uspl1 T A 5: 149,151,568 (GRCm39) S724T probably damaging Het
Vmn2r2 C A 3: 64,024,474 (GRCm39) K702N probably damaging Het
Zfp267 C T 3: 36,218,361 (GRCm39) T128I possibly 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
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
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'- TTTTCACAACCACCAGGAGAGC -3'
(R):5'- TACTAAGGAGATGCAAGGCCCTG -3'

Sequencing Primer
(F):5'- CTGGTGAGTAACTGAGGCTGAC -3'
(R):5'- GTCCTCAGAGTATCGTCA -3'
Posted On 2014-09-18