Incidental Mutation 'R5595:9930111J21Rik2'
ID 437786
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik2
Ensembl Gene ENSMUSG00000069892
Gene Name RIKEN cDNA 9930111J21 gene 2
Synonyms
MMRRC Submission 043147-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R5595 (G1)
Quality Score 134
Status Not validated
Chromosome 11
Chromosomal Location 48928487-48942069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48910538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 632 (A632T)
Ref Sequence ENSEMBL: ENSMUSP00000098853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000101295] [ENSMUST00000179282]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056759
SMART Domains Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 1.5e-33 PFAM
Pfam:7tm_4 108 252 1.7e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101295
AA Change: A632T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: A632T

DomainStartEndE-ValueType
Pfam:IIGP 36 398 2e-125 PFAM
Pfam:DLIC 52 107 3.2e-5 PFAM
Pfam:MMR_HSR1 72 235 2e-11 PFAM
low complexity region 430 444 N/A INTRINSIC
Pfam:IIGP 447 820 2.3e-151 PFAM
Pfam:MMR_HSR1 483 607 5.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179282
SMART Domains Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7tm_4 1 276 3.6e-51 PFAM
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 3.8e-26 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,682,143 (GRCm39) F991S probably benign Het
4931406B18Rik A G 7: 43,147,296 (GRCm39) I218T possibly damaging Het
Akt1 A T 12: 112,625,050 (GRCm39) L166Q probably null Het
Alpk2 A T 18: 65,399,319 (GRCm39) D2086E probably damaging Het
Ankrd11 A T 8: 123,621,043 (GRCm39) C915* probably null Het
Ankrd44 T C 1: 54,801,506 (GRCm39) T274A probably damaging Het
Ankrd44 A T 1: 54,774,209 (GRCm39) I398K probably damaging Het
Arhgef2 A G 3: 88,550,283 (GRCm39) T663A probably benign Het
Btbd16 G A 7: 130,425,033 (GRCm39) M471I possibly damaging Het
Btbd16 C A 7: 130,425,034 (GRCm39) Q472K probably damaging Het
Cdc37 G A 9: 21,054,509 (GRCm39) R39C probably damaging Het
Cnnm1 A G 19: 43,453,596 (GRCm39) N537S possibly damaging Het
Cop1 T A 1: 159,077,643 (GRCm39) D159E probably benign Het
Crtac1 C T 19: 42,402,390 (GRCm39) V73I probably benign Het
Cryz T A 3: 154,312,155 (GRCm39) V84E probably damaging Het
Ctnnd2 C T 15: 30,669,689 (GRCm39) L433F probably benign Het
Ctsq C A 13: 61,184,874 (GRCm39) D271Y probably benign Het
Cyp3a25 A C 5: 145,931,673 (GRCm39) probably null Het
Dmbt1 G C 7: 130,655,797 (GRCm39) W412C probably benign Het
Eif4e1b G A 13: 54,934,529 (GRCm39) V131I possibly damaging Het
Epha1 A G 6: 42,341,568 (GRCm39) V494A possibly damaging Het
Fbxl4 T C 4: 22,433,641 (GRCm39) S593P probably damaging Het
Fbxo41 G A 6: 85,456,883 (GRCm39) P429S probably benign Het
Fem1al T C 11: 29,774,288 (GRCm39) N390D probably benign Het
Fgfr3 G A 5: 33,887,347 (GRCm39) C204Y probably damaging Het
Gbf1 T C 19: 46,272,861 (GRCm39) V1665A possibly damaging Het
Htt T A 5: 35,062,741 (GRCm39) V2825E probably damaging Het
Irs1 A T 1: 82,267,646 (GRCm39) V190E probably damaging Het
Kics2 T C 10: 121,576,052 (GRCm39) probably benign Het
Klk1 T C 7: 43,878,161 (GRCm39) probably null Het
Kmt2d T C 15: 98,747,905 (GRCm39) probably benign Het
Meox1 T C 11: 101,770,169 (GRCm39) E186G probably damaging Het
Micu2 G A 14: 58,209,201 (GRCm39) R86W probably damaging Het
Mrgprb1 A T 7: 48,097,432 (GRCm39) I160K probably damaging Het
Nckap1l T A 15: 103,384,085 (GRCm39) M561K possibly damaging Het
Or4c104 A T 2: 88,586,749 (GRCm39) I90N probably damaging Het
Or52s6 A T 7: 103,091,635 (GRCm39) S232T probably damaging Het
Or56b35 A T 7: 104,963,213 (GRCm39) M1L probably benign Het
Otoa T A 7: 120,721,200 (GRCm39) L405H probably damaging Het
Phyhip A T 14: 70,704,314 (GRCm39) M178L probably benign Het
Pkd1l3 A T 8: 110,382,152 (GRCm39) N1630I probably damaging Het
Plek2 T A 12: 78,940,883 (GRCm39) T247S probably benign Het
Rhbdl3 T C 11: 80,228,409 (GRCm39) V293A probably damaging Het
Rock2 T A 12: 16,992,810 (GRCm39) F193Y probably damaging Het
Scn3a C T 2: 65,291,057 (GRCm39) M1896I probably benign Het
Snrnp200 T C 2: 127,067,933 (GRCm39) V810A probably damaging Het
Taar4 G A 10: 23,836,639 (GRCm39) S83N probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tec T A 5: 72,926,087 (GRCm39) I322F possibly damaging Het
Teddm2 T C 1: 153,726,146 (GRCm39) I190V probably benign Het
Tmem117 A G 15: 94,992,765 (GRCm39) E475G probably damaging Het
Trip10 T A 17: 57,569,460 (GRCm39) Y495N probably damaging Het
Ush2a T C 1: 188,638,695 (GRCm39) V4035A possibly damaging Het
Utrn C T 10: 12,558,062 (GRCm39) V1466M possibly damaging Het
Vasp A G 7: 18,991,816 (GRCm39) probably benign Het
Vmn1r89 A T 7: 12,953,857 (GRCm39) M130L possibly damaging Het
Vmn2r2 A T 3: 64,034,036 (GRCm39) D495E possibly damaging Het
Zfp213 A G 17: 23,780,160 (GRCm39) V120A possibly damaging Het
Other mutations in 9930111J21Rik2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1986:9930111J21Rik2 UTSW 11 48,910,119 (GRCm39) missense possibly damaging 0.83
R2023:9930111J21Rik2 UTSW 11 48,911,144 (GRCm39) missense probably benign 0.01
R2202:9930111J21Rik2 UTSW 11 48,910,149 (GRCm39) missense probably damaging 1.00
R2205:9930111J21Rik2 UTSW 11 48,910,149 (GRCm39) missense probably damaging 1.00
R2337:9930111J21Rik2 UTSW 11 48,911,131 (GRCm39) missense probably benign 0.01
R3709:9930111J21Rik2 UTSW 11 48,910,480 (GRCm39) missense probably damaging 1.00
R3716:9930111J21Rik2 UTSW 11 48,910,363 (GRCm39) missense probably damaging 0.96
R3738:9930111J21Rik2 UTSW 11 48,910,108 (GRCm39) nonsense probably null
R3739:9930111J21Rik2 UTSW 11 48,910,108 (GRCm39) nonsense probably null
R4034:9930111J21Rik2 UTSW 11 48,910,108 (GRCm39) nonsense probably null
R5413:9930111J21Rik2 UTSW 11 48,911,204 (GRCm39) missense possibly damaging 0.91
R5611:9930111J21Rik2 UTSW 11 48,910,828 (GRCm39) missense possibly damaging 0.91
R5651:9930111J21Rik2 UTSW 11 48,910,700 (GRCm39) missense probably damaging 0.99
R5715:9930111J21Rik2 UTSW 11 48,910,777 (GRCm39) missense probably damaging 1.00
R6169:9930111J21Rik2 UTSW 11 48,910,088 (GRCm39) splice site probably null
R6218:9930111J21Rik2 UTSW 11 48,910,134 (GRCm39) missense probably benign 0.06
R6536:9930111J21Rik2 UTSW 11 48,910,550 (GRCm39) missense probably benign 0.03
R7186:9930111J21Rik2 UTSW 11 48,910,100 (GRCm39) missense possibly damaging 0.96
R7891:9930111J21Rik2 UTSW 11 48,910,543 (GRCm39) missense probably benign 0.11
R8056:9930111J21Rik2 UTSW 11 48,910,909 (GRCm39) missense probably benign 0.40
R8419:9930111J21Rik2 UTSW 11 48,910,312 (GRCm39) missense probably damaging 1.00
R8726:9930111J21Rik2 UTSW 11 48,910,507 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGTCAAGGTCTCTTCCAACTTC -3'
(R):5'- TGATGCACATCTGGCCAAAAC -3'

Sequencing Primer
(F):5'- GCCAGATCTTCTGTCTGAGGAAATC -3'
(R):5'- GATGCACATCTGGCCAAAACTATTG -3'
Posted On 2016-10-26