Incidental Mutation 'R2337:9930111J21Rik2'
ID 246591
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik2
Ensembl Gene ENSMUSG00000069892
Gene Name RIKEN cDNA 9930111J21 gene 2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R2337 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 48928487-48942069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48911131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 434 (N434S)
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 benign
Transcript: ENSMUST00000101295
AA Change: N434S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: N434S

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Acaca T C 11: 84,148,023 (GRCm39) S691P possibly damaging Het
Arid5b T C 10: 67,933,607 (GRCm39) D765G possibly damaging Het
Ccdc14 A G 16: 34,525,388 (GRCm39) H179R probably benign Het
Ccdc177 C T 12: 80,805,465 (GRCm39) A270T unknown Het
Cdh16 G T 8: 105,348,902 (GRCm39) T65K probably benign Het
Dag1 G T 9: 108,084,596 (GRCm39) Y848* probably null Het
Dnhd1 C T 7: 105,352,674 (GRCm39) T2609I probably benign Het
Eif1ad5 T A 12: 87,946,948 (GRCm39) V130E unknown Het
Fat4 A G 3: 39,034,160 (GRCm39) Y2604C probably damaging Het
Fhad1 T C 4: 141,649,655 (GRCm39) D164G possibly damaging Het
Fnip1 G A 11: 54,366,563 (GRCm39) D109N probably damaging Het
Gfm1 A G 3: 67,342,847 (GRCm39) D127G probably damaging Het
Gsap T A 5: 21,493,628 (GRCm39) I755N probably damaging Het
Hdgfl2 T C 17: 56,403,987 (GRCm39) V281A possibly damaging Het
Hmg20b T C 10: 81,184,347 (GRCm39) E50G probably damaging Het
Myo5a A G 9: 75,111,083 (GRCm39) D1498G probably damaging Het
Poc5 T C 13: 96,547,111 (GRCm39) V458A probably damaging Het
Tada2b T C 5: 36,634,258 (GRCm39) M107V probably benign Het
Tle6 T C 10: 81,428,490 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Xkr7 G A 2: 152,896,318 (GRCm39) V391M 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
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'- CTCCCCTCAAGGCATTGATAAAG -3'
(R):5'- ATGGTATCAGCAGCTGAGCTC -3'

Sequencing Primer
(F):5'- GATAAAGCTGGATTTTCCTGTCC -3'
(R):5'- CAGCTGAGCTCCCATTTTATCATAAG -3'
Posted On 2014-10-30