Incidental Mutation 'R2205:9930111J21Rik2'
ID 238992
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik2
Ensembl Gene ENSMUSG00000069892
Gene Name RIKEN cDNA 9930111J21 gene 2
Synonyms
MMRRC Submission 040207-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R2205 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 48928487-48942069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 48910149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 761 (L761F)
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 probably damaging
Transcript: ENSMUST00000101295
AA Change: L761F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: L761F

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,846,503 (GRCm39) S652P probably damaging Het
Acsl6 G A 11: 54,214,833 (GRCm39) G75S probably damaging Het
Adamts7 A T 9: 90,062,729 (GRCm39) K394N probably damaging Het
Ahdc1 A G 4: 132,793,220 (GRCm39) E1487G possibly damaging Het
Aknad1 A G 3: 108,664,609 (GRCm39) D406G probably damaging Het
Albfm1 A G 5: 90,717,421 (GRCm39) T201A possibly damaging Het
Ankrd2 C A 19: 42,032,558 (GRCm39) A273E probably damaging Het
Ankrd26 T A 6: 118,500,843 (GRCm39) H876L possibly damaging Het
Arhgap35 A T 7: 16,231,950 (GRCm39) probably null Het
Bag6 G A 17: 35,363,583 (GRCm39) G751R probably damaging Het
Brat1 G A 5: 140,690,888 (GRCm39) probably benign Het
Cacna1h C T 17: 25,599,234 (GRCm39) A1742T probably damaging Het
Catsperg1 G A 7: 28,884,671 (GRCm39) Q922* probably null Het
Cfap221 T G 1: 119,863,834 (GRCm39) Y570S possibly damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Chil3 T C 3: 106,071,562 (GRCm39) D34G probably benign Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Cpd A G 11: 76,693,070 (GRCm39) Y739H probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dhrs7 A T 12: 72,703,144 (GRCm39) V188E probably damaging Het
Dpp9 A C 17: 56,506,287 (GRCm39) I411S possibly damaging Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fitm2 G A 2: 163,314,516 (GRCm39) probably benign Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Gpatch1 C A 7: 34,991,197 (GRCm39) D616Y probably damaging Het
Gpc3 T A X: 51,486,083 (GRCm39) I344F probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Hoxb3 T A 11: 96,236,494 (GRCm39) S191T probably benign Het
Ifit1bl1 C T 19: 34,571,741 (GRCm39) E239K probably benign Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Irak1 G A X: 73,060,744 (GRCm39) T193I probably damaging Het
Megf8 C T 7: 25,041,173 (GRCm39) T1134I probably benign Het
Mtrex T C 13: 113,035,424 (GRCm39) I510V probably benign Het
Nipsnap1 C A 11: 4,839,974 (GRCm39) H232N possibly damaging Het
Nme4 A T 17: 26,311,114 (GRCm39) H150Q possibly damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
P2rx7 T A 5: 122,819,164 (GRCm39) Y529N probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pofut1 T A 2: 153,103,167 (GRCm39) M267K probably damaging Het
Rad54l2 T C 9: 106,594,997 (GRCm39) D320G probably damaging Het
Rdm1 C A 11: 101,525,629 (GRCm39) A225E probably damaging Het
Samm50 G A 15: 84,086,515 (GRCm39) A245T probably benign Het
Scfd2 A T 5: 74,386,028 (GRCm39) M597K possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Ssh3 A G 19: 4,319,101 (GRCm39) L3P probably damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Tbc1d31 A G 15: 57,816,916 (GRCm39) D717G probably benign Het
Timd5 A G 11: 46,419,394 (GRCm39) N70S probably benign Het
Tma7 C A 9: 108,911,294 (GRCm39) probably benign Het
Tmc1 A T 19: 20,918,269 (GRCm39) L2M probably benign Het
Tmem39b A C 4: 129,587,716 (GRCm39) S32A probably benign Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Tns3 T C 11: 8,481,719 (GRCm39) Y211C probably damaging Het
Ttc21b C T 2: 66,065,467 (GRCm39) G436S possibly damaging Het
Ttn T C 2: 76,681,907 (GRCm39) probably benign Het
Ube3b G A 5: 114,527,135 (GRCm39) V118M probably damaging Het
Usp34 A G 11: 23,335,147 (GRCm39) T1210A probably damaging Het
Vmn1r23 T C 6: 57,903,604 (GRCm39) D58G probably benign Het
Vmn2r104 A T 17: 20,250,083 (GRCm39) N729K probably benign Het
Wdr62 T A 7: 29,957,574 (GRCm39) probably null Het
Ywhah A G 5: 33,184,484 (GRCm39) N229S probably damaging Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfyve27 C A 19: 42,171,885 (GRCm39) A139D probably damaging Het
Zmat1 A G X: 133,873,861 (GRCm39) L476P possibly damaging Het
Zswim4 G T 8: 84,952,498 (GRCm39) T488N 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
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
R5595:9930111J21Rik2 UTSW 11 48,910,538 (GRCm39) missense possibly damaging 0.95
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'- TAAGGAGAGACTTGGCATCAC -3'
(R):5'- TACTGAGACTGCCATTGCC -3'

Sequencing Primer
(F):5'- CTTGCCACAGTATCAATGAAGAG -3'
(R):5'- GGGATTTCCTCAGACAGAAGATCTG -3'
Posted On 2014-10-02