Incidental Mutation 'R5896:2310061N02Rik'
ID 457556
Institutional Source Beutler Lab
Gene Symbol 2310061N02Rik
Ensembl Gene ENSMUSG00000050704
Gene Name RIKEN cDNA 2310061N02 gene
Synonyms
MMRRC Submission 044095-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5896 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 88504059-88504850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88504321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 159 (S159T)
Ref Sequence ENSEMBL: ENSMUSP00000062074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050882]
AlphaFold Q9D6S9
Predicted Effect probably damaging
Transcript: ENSMUST00000050882
AA Change: S159T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062074
Gene: ENSMUSG00000050704
AA Change: S159T

DomainStartEndE-ValueType
Pfam:PMG 1 169 1.7e-58 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 99% (86/87)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik T A 10: 76,288,664 (GRCm39) M53K probably benign Het
3425401B19Rik G A 14: 32,383,632 (GRCm39) Q778* probably null Het
Abhd16a T A 17: 35,310,701 (GRCm39) probably benign Het
Acp6 A G 3: 97,075,810 (GRCm39) K226R probably benign Het
Ankfy1 A G 11: 72,650,811 (GRCm39) D998G probably damaging Het
Apbb1 G T 7: 105,223,432 (GRCm39) P60T probably damaging Het
Apol9a T A 15: 77,288,705 (GRCm39) I221F probably benign Het
Arhgap29 A G 3: 121,805,736 (GRCm39) E947G possibly damaging Het
B430218F22Rik A T 13: 118,523,934 (GRCm39) probably benign Het
Carmil3 ACCCCC ACCCCCCC 14: 55,741,456 (GRCm39) probably null Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccdc93 G T 1: 121,390,849 (GRCm39) V274L possibly damaging Het
Cdc25a A G 9: 109,713,433 (GRCm39) D191G probably benign Het
Cimip2a A T 2: 25,110,578 (GRCm39) M129L probably benign Het
Cmya5 A G 13: 93,182,373 (GRCm39) probably null Het
Crebzf TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 7: 90,092,479 (GRCm39) probably benign Het
Csde1 T C 3: 102,947,859 (GRCm39) probably benign Het
Ctdp1 A G 18: 80,502,003 (GRCm39) L177P probably damaging Het
Dnah5 T A 15: 28,272,206 (GRCm39) H1003Q probably benign Het
Epb41l2 T A 10: 25,369,494 (GRCm39) N604K probably damaging Het
Fig4 T A 10: 41,130,881 (GRCm39) N465Y possibly damaging Het
Gemin7 G A 7: 19,299,223 (GRCm39) S124F probably damaging Het
Gli3 G A 13: 15,900,765 (GRCm39) R1384K probably benign Het
Gm12258 G A 11: 58,750,457 (GRCm39) C544Y probably damaging Het
Grm1 C T 10: 10,956,294 (GRCm39) probably benign Het
H2-T15 T A 17: 36,367,236 (GRCm39) M329L probably benign Het
Hps4 C T 5: 112,517,351 (GRCm39) T246I probably benign Het
Ifngr2 A T 16: 91,358,653 (GRCm39) E284D possibly damaging Het
Impdh2 A G 9: 108,441,165 (GRCm39) T148A probably benign Het
Irx3 T C 8: 92,527,763 (GRCm39) S36G probably benign Het
Itga5 T A 15: 103,259,514 (GRCm39) K667N probably benign Het
Itgad G A 7: 127,773,188 (GRCm39) C15Y probably benign Het
Ly75 T G 2: 60,213,490 (GRCm39) E29A probably benign Het
Magi1 T A 6: 93,685,180 (GRCm39) S506C probably damaging Het
Map4 G A 9: 109,901,702 (GRCm39) V781M possibly damaging Het
Med23 T C 10: 24,778,043 (GRCm39) L797P probably damaging Het
Naip1 C T 13: 100,559,636 (GRCm39) G1123R probably benign Het
Ncor1 G T 11: 62,274,016 (GRCm39) P55Q probably damaging Het
Odr4 A T 1: 150,256,111 (GRCm39) N211K probably benign Het
Ofcc1 T A 13: 40,334,060 (GRCm39) I344F probably benign Het
Or4a74 C A 2: 89,439,667 (GRCm39) V260F probably damaging Het
Or4d5 A T 9: 40,012,189 (GRCm39) M199K probably damaging Het
Or5d35 A G 2: 87,855,465 (GRCm39) Y133C probably damaging Het
Or5k1 G A 16: 58,618,095 (GRCm39) T38I probably damaging Het
Otub2 C T 12: 103,369,687 (GRCm39) probably benign Het
Parva A G 7: 112,143,960 (GRCm39) M83V probably benign Het
Pcdha8 T A 18: 37,126,572 (GRCm39) N351K probably benign Het
Pcdhb5 T A 18: 37,455,732 (GRCm39) L704* probably null Het
Pkd1l3 T A 8: 110,353,468 (GRCm39) L683H probably damaging Het
Plekhn1 C T 4: 156,308,331 (GRCm39) R288H probably benign Het
Polr2a A T 11: 69,627,086 (GRCm39) N1457K probably damaging Het
Ppp1r12b A G 1: 134,693,719 (GRCm39) S981P probably damaging Het
Ppp1r9a A G 6: 5,159,648 (GRCm39) K1062E probably damaging Het
Ptpre A T 7: 135,276,007 (GRCm39) T498S probably benign Het
Pus7l C T 15: 94,427,332 (GRCm39) probably null Het
Rptn C T 3: 93,305,639 (GRCm39) Q991* probably null Het
Rsu1 T G 2: 13,229,170 (GRCm39) E76A probably damaging Het
Septin11 T A 5: 93,304,824 (GRCm39) F214I probably damaging Het
Slc1a7 G T 4: 107,869,587 (GRCm39) A551S probably benign Het
Slc45a2 T A 15: 11,000,941 (GRCm39) Y13* probably null Het
Slc7a14 T G 3: 31,311,719 (GRCm39) L100F probably damaging Het
Slit3 A G 11: 35,598,932 (GRCm39) E1512G probably damaging Het
Stat5a A G 11: 100,767,883 (GRCm39) Q458R possibly damaging Het
Svep1 T C 4: 58,084,906 (GRCm39) T1811A possibly damaging Het
Tarbp1 A G 8: 127,179,667 (GRCm39) F624L probably benign Het
Tfeb T G 17: 48,070,433 (GRCm39) probably null Het
Tnxb G A 17: 34,891,126 (GRCm39) G490R probably damaging Het
Tra2b T C 16: 22,077,953 (GRCm39) Y32C probably damaging Het
Trpv4 C T 5: 114,760,708 (GRCm39) probably benign Het
Uvrag A T 7: 98,637,414 (GRCm39) L138* probably null Het
Vwf A T 6: 125,655,725 (GRCm39) probably null Het
Wdr47 G A 3: 108,526,322 (GRCm39) D282N probably damaging Het
Xirp2 A G 2: 67,340,290 (GRCm39) N844D possibly damaging Het
Xirp2 A G 2: 67,339,042 (GRCm39) M428V probably benign Het
Znfx1 G A 2: 166,880,920 (GRCm39) T288I probably damaging Het
Other mutations in 2310061N02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0127:2310061N02Rik UTSW 16 88,504,342 (GRCm39) missense probably benign 0.01
R0966:2310061N02Rik UTSW 16 88,504,310 (GRCm39) missense probably damaging 1.00
R1834:2310061N02Rik UTSW 16 88,504,786 (GRCm39) missense unknown
R1854:2310061N02Rik UTSW 16 88,504,668 (GRCm39) missense possibly damaging 0.74
R4792:2310061N02Rik UTSW 16 88,504,651 (GRCm39) missense possibly damaging 0.95
R5431:2310061N02Rik UTSW 16 88,504,426 (GRCm39) missense possibly damaging 0.67
R6416:2310061N02Rik UTSW 16 88,504,779 (GRCm39) missense unknown
R6737:2310061N02Rik UTSW 16 88,504,456 (GRCm39) missense probably damaging 1.00
R7629:2310061N02Rik UTSW 16 88,504,293 (GRCm39) missense probably benign 0.03
X0021:2310061N02Rik UTSW 16 88,504,785 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CACGCTCCAAGAATTTATGAATAGG -3'
(R):5'- GGCCACATATGCTGGCTTTC -3'

Sequencing Primer
(F):5'- GGACCTTGTCTTTAAACCC -3'
(R):5'- CTTGGTTTTAGGTCCAGCAGC -3'
Posted On 2017-02-15