Incidental Mutation 'R7495:Ice2'
ID 581039
Institutional Source Beutler Lab
Gene Symbol Ice2
Ensembl Gene ENSMUSG00000032235
Gene Name interactor of little elongation complex ELL subunit 2
Synonyms Narg2, B230343B06Rik
MMRRC Submission 045568-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # R7495 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 69305185-69340360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69323511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 669 (V669L)
Ref Sequence ENSEMBL: ENSMUSP00000034761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034761]
AlphaFold Q3UZ18
Predicted Effect probably benign
Transcript: ENSMUST00000034761
AA Change: V669L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: V669L

DomainStartEndE-ValueType
low complexity region 408 422 N/A INTRINSIC
low complexity region 434 473 N/A INTRINSIC
low complexity region 563 580 N/A INTRINSIC
low complexity region 615 629 N/A INTRINSIC
Pfam:NARG2_C 726 936 1.7e-85 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,915,871 (GRCm39) E1251G probably damaging Het
Apba1 T C 19: 23,913,963 (GRCm39) probably null Het
Arap2 C T 5: 62,833,893 (GRCm39) S858N possibly damaging Het
Capn10 T C 1: 92,871,092 (GRCm39) F301L probably damaging Het
Catip T C 1: 74,401,851 (GRCm39) W9R probably benign Het
Cfap46 A G 7: 139,183,112 (GRCm39) probably null Het
Cpq C T 15: 33,302,586 (GRCm39) R246C probably damaging Het
Dgkh A G 14: 78,816,239 (GRCm39) S1067P probably benign Het
Dpp3 T C 19: 4,967,941 (GRCm39) E316G probably damaging Het
Dpp9 T C 17: 56,502,044 (GRCm39) Q508R probably benign Het
Frem2 T C 3: 53,424,258 (GRCm39) N3060D probably benign Het
Fstl5 A G 3: 76,615,099 (GRCm39) Y720C possibly damaging Het
Gm28168 T C 1: 117,875,637 (GRCm39) S89P possibly damaging Het
Hk2 C T 6: 82,704,346 (GRCm39) G900E probably damaging Het
Hrh1 A C 6: 114,457,634 (GRCm39) D305A probably benign Het
Htt C T 5: 34,968,821 (GRCm39) S435L probably benign Het
Klk1b27 G A 7: 43,705,500 (GRCm39) V191I probably benign Het
Med12l A G 3: 59,152,194 (GRCm39) K993R probably damaging Het
Nfe2l1 A G 11: 96,710,622 (GRCm39) Y536H probably damaging Het
Nr4a2 T C 2: 57,002,171 (GRCm39) D94G possibly damaging Het
Oit3 T C 10: 59,259,765 (GRCm39) D546G possibly damaging Het
Paxbp1 T C 16: 90,813,837 (GRCm39) T847A probably damaging Het
Pde12 A T 14: 26,389,994 (GRCm39) N238K probably benign Het
Pfkfb3 A C 2: 11,487,312 (GRCm39) I366S probably damaging Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Ptprb C A 10: 116,177,353 (GRCm39) Q1018K probably benign Het
Rxfp3 C A 15: 11,036,011 (GRCm39) G454C probably damaging Het
Scn5a A G 9: 119,372,200 (GRCm39) V223A probably damaging Het
Sema4c C A 1: 36,589,774 (GRCm39) V527L probably benign Het
Slk C A 19: 47,627,417 (GRCm39) P1182T probably damaging Het
Stt3a A G 9: 36,659,235 (GRCm39) V368A probably benign Het
Trpm3 T C 19: 22,875,160 (GRCm39) F601L probably benign Het
Ttn T C 2: 76,540,299 (GRCm39) D34229G probably benign Het
Vmn2r107 A G 17: 20,595,271 (GRCm39) H608R possibly damaging Het
Vmn2r49 A T 7: 9,710,826 (GRCm39) C635* probably null Het
Zfp473 A T 7: 44,387,368 (GRCm39) F95Y probably benign Het
Zfp984 A C 4: 147,839,287 (GRCm39) S521R possibly damaging Het
Other mutations in Ice2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Ice2 APN 9 69,323,395 (GRCm39) missense probably benign 0.04
IGL01626:Ice2 APN 9 69,314,614 (GRCm39) missense probably benign 0.39
IGL03035:Ice2 APN 9 69,332,970 (GRCm39) missense probably benign 0.06
R0227:Ice2 UTSW 9 69,319,510 (GRCm39) missense probably benign 0.08
R1373:Ice2 UTSW 9 69,314,401 (GRCm39) missense probably benign 0.01
R1381:Ice2 UTSW 9 69,307,809 (GRCm39) missense probably damaging 1.00
R1599:Ice2 UTSW 9 69,318,724 (GRCm39) missense probably null 0.01
R1778:Ice2 UTSW 9 69,322,930 (GRCm39) missense probably benign 0.04
R1818:Ice2 UTSW 9 69,339,383 (GRCm39) missense probably benign 0.00
R1829:Ice2 UTSW 9 69,314,635 (GRCm39) missense probably damaging 0.99
R1876:Ice2 UTSW 9 69,322,857 (GRCm39) missense possibly damaging 0.85
R1878:Ice2 UTSW 9 69,335,858 (GRCm39) critical splice donor site probably null
R2026:Ice2 UTSW 9 69,323,607 (GRCm39) missense probably benign 0.00
R2915:Ice2 UTSW 9 69,318,122 (GRCm39) missense probably benign 0.19
R4097:Ice2 UTSW 9 69,328,953 (GRCm39) missense possibly damaging 0.95
R4815:Ice2 UTSW 9 69,314,400 (GRCm39) missense probably damaging 1.00
R4861:Ice2 UTSW 9 69,322,730 (GRCm39) missense probably benign 0.00
R4861:Ice2 UTSW 9 69,322,730 (GRCm39) missense probably benign 0.00
R5066:Ice2 UTSW 9 69,315,573 (GRCm39) missense probably benign 0.00
R5653:Ice2 UTSW 9 69,335,662 (GRCm39) missense probably benign 0.00
R5898:Ice2 UTSW 9 69,315,544 (GRCm39) missense probably benign 0.08
R5951:Ice2 UTSW 9 69,319,651 (GRCm39) missense possibly damaging 0.67
R6176:Ice2 UTSW 9 69,324,354 (GRCm39) missense probably damaging 1.00
R6566:Ice2 UTSW 9 69,323,511 (GRCm39) missense probably benign
R6632:Ice2 UTSW 9 69,335,734 (GRCm39) missense probably benign 0.07
R7195:Ice2 UTSW 9 69,335,782 (GRCm39) missense possibly damaging 0.91
R7272:Ice2 UTSW 9 69,324,365 (GRCm39) missense possibly damaging 0.46
R7365:Ice2 UTSW 9 69,307,794 (GRCm39) missense probably damaging 1.00
R7535:Ice2 UTSW 9 69,339,360 (GRCm39) missense probably damaging 0.98
R7937:Ice2 UTSW 9 69,318,067 (GRCm39) missense possibly damaging 0.71
R8124:Ice2 UTSW 9 69,307,777 (GRCm39) missense probably damaging 1.00
R8381:Ice2 UTSW 9 69,317,453 (GRCm39) missense probably damaging 1.00
R8525:Ice2 UTSW 9 69,318,698 (GRCm39) missense probably damaging 1.00
R9586:Ice2 UTSW 9 69,314,478 (GRCm39) missense probably damaging 1.00
R9672:Ice2 UTSW 9 69,322,899 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCAAATTCTTCAGCACAGG -3'
(R):5'- GACTGTGATCCCCTCCATAAGC -3'

Sequencing Primer
(F):5'- ACAGGCTTCTGCAGGGAATC -3'
(R):5'- GCTTAGTAGCCCAGGTATATACC -3'
Posted On 2019-10-17