Incidental Mutation 'R0880:Ess2'
ID 80486
Institutional Source Beutler Lab
Gene Symbol Ess2
Ensembl Gene ENSMUSG00000003527
Gene Name ess-2 splicing factor
Synonyms Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el
MMRRC Submission 039047-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R0880 (G1)
Quality Score 201
Status Not validated
Chromosome 16
Chromosomal Location 17718573-17729212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17729051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000003621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000012279] [ENSMUST00000232423] [ENSMUST00000232493]
AlphaFold O70279
Predicted Effect probably damaging
Transcript: ENSMUST00000003621
AA Change: V40A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: V40A

DomainStartEndE-ValueType
low complexity region 7 34 N/A INTRINSIC
Pfam:Es2 37 405 1.9e-76 PFAM
low complexity region 434 455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000012279
SMART Domains Protein: ENSMUSP00000012279
Gene: ENSMUSG00000022738

DomainStartEndE-ValueType
low complexity region 59 85 N/A INTRINSIC
low complexity region 95 119 N/A INTRINSIC
HOX 136 198 2.9e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232111
Predicted Effect possibly damaging
Transcript: ENSMUST00000232423
AA Change: V40A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000232493
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: The human ortholog of this gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of human chromosome band 22q11.2. The encoded protein localizes to the nucleus, and the orthologous protein in humans co-purifies with C complex spliceosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,537,609 (GRCm39) Y701H possibly damaging Het
Akap6 A G 12: 53,186,291 (GRCm39) D1235G possibly damaging Het
Arhgef18 A G 8: 3,439,032 (GRCm39) probably benign Het
Astn2 A G 4: 65,566,567 (GRCm39) Y812H probably damaging Het
Bmpr1b G T 3: 141,576,557 (GRCm39) S92* probably null Het
Camsap2 T C 1: 136,208,708 (GRCm39) D934G probably benign Het
Cdh23 A G 10: 60,242,200 (GRCm39) V1076A possibly damaging Het
Cdhr1 T C 14: 36,802,591 (GRCm39) D624G possibly damaging Het
Cfap57 A T 4: 118,439,035 (GRCm39) Y830* probably null Het
Eml3 A G 19: 8,918,279 (GRCm39) D790G possibly damaging Het
Gucy2c T C 6: 136,686,830 (GRCm39) probably null Het
Helz2 A C 2: 180,877,928 (GRCm39) S957A probably benign Het
Ifi209 T A 1: 173,472,379 (GRCm39) S407T probably damaging Het
Iftap T A 2: 101,406,455 (GRCm39) T158S probably benign Het
Muc6 T C 7: 141,217,270 (GRCm39) T2403A possibly damaging Het
Nfe2 T C 15: 103,157,689 (GRCm39) N101D probably damaging Het
Nsf A T 11: 103,804,198 (GRCm39) V178D possibly damaging Het
P4ha3 A G 7: 99,955,116 (GRCm39) T324A probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Rhbdf1 T C 11: 32,163,432 (GRCm39) probably null Het
Samd9l G A 6: 3,377,064 (GRCm39) L66F probably damaging Het
Speg T C 1: 75,381,705 (GRCm39) F1024S probably damaging Het
Sspo A G 6: 48,452,869 (GRCm39) N2859S possibly damaging Het
Tnfrsf21 G A 17: 43,348,733 (GRCm39) W115* probably null Het
Other mutations in Ess2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Ess2 APN 16 17,720,796 (GRCm39) missense probably damaging 1.00
IGL02279:Ess2 APN 16 17,720,775 (GRCm39) missense possibly damaging 0.95
R0227:Ess2 UTSW 16 17,720,135 (GRCm39) missense probably damaging 0.97
R0316:Ess2 UTSW 16 17,727,958 (GRCm39) missense probably benign 0.06
R0669:Ess2 UTSW 16 17,725,419 (GRCm39) missense probably damaging 1.00
R1230:Ess2 UTSW 16 17,727,814 (GRCm39) missense probably benign 0.00
R1429:Ess2 UTSW 16 17,720,069 (GRCm39) nonsense probably null
R1633:Ess2 UTSW 16 17,727,831 (GRCm39) missense probably benign 0.03
R1891:Ess2 UTSW 16 17,725,644 (GRCm39) nonsense probably null
R2035:Ess2 UTSW 16 17,727,950 (GRCm39) critical splice donor site probably null
R2267:Ess2 UTSW 16 17,727,859 (GRCm39) missense probably damaging 1.00
R7126:Ess2 UTSW 16 17,729,154 (GRCm39) missense unknown
R7804:Ess2 UTSW 16 17,729,031 (GRCm39) missense probably damaging 0.96
R8479:Ess2 UTSW 16 17,728,805 (GRCm39) splice site probably null
R8826:Ess2 UTSW 16 17,722,954 (GRCm39) missense probably damaging 1.00
R9194:Ess2 UTSW 16 17,728,028 (GRCm39) missense probably damaging 1.00
R9628:Ess2 UTSW 16 17,720,757 (GRCm39) missense probably damaging 0.99
Z1176:Ess2 UTSW 16 17,720,174 (GRCm39) missense possibly damaging 0.85
Z1177:Ess2 UTSW 16 17,727,786 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCACTCAATGACGAAGCCAGTTCC -3'
(R):5'- TCTAGATGGGCATGAGCAACGC -3'

Sequencing Primer
(F):5'- GAAAACTGGATGCCCACTTCTG -3'
(R):5'- AGTGACATCATTGGAGCGCC -3'
Posted On 2013-11-07