Incidental Mutation 'R6118:Rbm12b2'
ID 485200
Institutional Source Beutler Lab
Gene Symbol Rbm12b2
Ensembl Gene ENSMUSG00000052137
Gene Name RNA binding motif protein 12 B2
Synonyms C430048L16Rik
MMRRC Submission 044267-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R6118 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 12089439-12096243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12095135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 665 (S665P)
Ref Sequence ENSEMBL: ENSMUSP00000092765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063839] [ENSMUST00000095143]
AlphaFold Q66JV4
Predicted Effect probably benign
Transcript: ENSMUST00000063839
AA Change: S665P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066311
Gene: ENSMUSG00000052137
AA Change: S665P

DomainStartEndE-ValueType
RRM 4 72 2.1e-1 SMART
low complexity region 115 125 N/A INTRINSIC
RRM 155 225 5.59e-4 SMART
RRM 284 355 4.87e-4 SMART
RRM 402 474 2.28e-9 SMART
RRM 759 832 7.49e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095143
AA Change: S665P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092765
Gene: ENSMUSG00000052137
AA Change: S665P

DomainStartEndE-ValueType
RRM 4 72 2.1e-1 SMART
low complexity region 115 125 N/A INTRINSIC
RRM 155 225 5.59e-4 SMART
RRM 284 355 4.87e-4 SMART
RRM 402 474 2.28e-9 SMART
RRM 759 832 7.49e-5 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T G 10: 10,307,035 (GRCm39) K316N probably damaging Het
Als2 A T 1: 59,242,228 (GRCm39) V609E possibly damaging Het
Ank3 A G 10: 69,830,231 (GRCm39) I71V probably damaging Het
Antxr2 T A 5: 98,097,060 (GRCm39) D351V probably damaging Het
Arel1 A G 12: 84,988,713 (GRCm39) V12A possibly damaging Het
Atad1 C T 19: 32,664,697 (GRCm39) R239H possibly damaging Het
B3galnt2 A G 13: 14,166,094 (GRCm39) T330A probably damaging Het
Bag6 T A 17: 35,362,600 (GRCm39) I636N probably damaging Het
C1qtnf6 T C 15: 78,409,595 (GRCm39) D84G probably damaging Het
Ceacam20 T C 7: 19,705,654 (GRCm39) V215A possibly damaging Het
Chtf18 C T 17: 25,938,133 (GRCm39) D967N probably damaging Het
Cntnap2 T A 6: 47,170,011 (GRCm39) I1159K possibly damaging Het
Col2a1 T C 15: 97,896,448 (GRCm39) D67G unknown Het
Csde1 T A 3: 102,962,070 (GRCm39) V627E probably benign Het
Epb41l1 G A 2: 156,364,397 (GRCm39) E969K probably benign Het
Fam53c A C 18: 34,901,743 (GRCm39) E220A probably damaging Het
Gabbr2 C T 4: 46,736,459 (GRCm39) R474Q probably damaging Het
H2bc18 T A 3: 96,177,267 (GRCm39) V67E probably damaging Het
Hap1 G T 11: 100,246,620 (GRCm39) T95N probably benign Het
Jmjd1c A G 10: 67,075,791 (GRCm39) K1886R probably damaging Het
Kndc1 A G 7: 139,503,717 (GRCm39) D1007G probably damaging Het
Mcm2 C T 6: 88,864,818 (GRCm39) A553T probably damaging Het
Memo1 T C 17: 74,509,302 (GRCm39) Y239C possibly damaging Het
Meox2 GCACCACCACCACCACCACCA GCACCACCACCACCACCA 12: 37,159,030 (GRCm39) probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Obsl1 A G 1: 75,468,722 (GRCm39) probably benign Het
Or4c107 T A 2: 88,789,462 (GRCm39) Y217* probably null Het
Or8k35 T A 2: 86,424,758 (GRCm39) H138L probably benign Het
Pold3 A G 7: 99,745,614 (GRCm39) S180P possibly damaging Het
Rfc4 A T 16: 22,939,693 (GRCm39) S86T probably damaging Het
Rfx6 T A 10: 51,587,962 (GRCm39) N277K possibly damaging Het
Ryr2 C A 13: 11,807,575 (GRCm39) V865F possibly damaging Het
Skint4 T A 4: 111,977,019 (GRCm39) probably null Het
Slc38a10 T C 11: 120,023,669 (GRCm39) Y249C probably damaging Het
Slco1b2 A G 6: 141,603,236 (GRCm39) T206A probably benign Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tbc1d1 C T 5: 64,441,380 (GRCm39) L655F probably damaging Het
Tpp2 A T 1: 43,979,306 (GRCm39) I68F probably damaging Het
Trim30c G T 7: 104,031,288 (GRCm39) T509K probably benign Het
Zfp827 G T 8: 79,803,067 (GRCm39) K546N possibly damaging Het
Other mutations in Rbm12b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB004:Rbm12b2 UTSW 4 12,095,417 (GRCm39) missense possibly damaging 0.76
BB014:Rbm12b2 UTSW 4 12,095,417 (GRCm39) missense possibly damaging 0.76
R1486:Rbm12b2 UTSW 4 12,094,841 (GRCm39) missense probably benign 0.00
R2260:Rbm12b2 UTSW 4 12,095,061 (GRCm39) missense probably benign 0.00
R2421:Rbm12b2 UTSW 4 12,095,127 (GRCm39) missense possibly damaging 0.87
R4867:Rbm12b2 UTSW 4 12,094,805 (GRCm39) missense probably damaging 1.00
R7927:Rbm12b2 UTSW 4 12,095,417 (GRCm39) missense possibly damaging 0.76
R9215:Rbm12b2 UTSW 4 12,095,471 (GRCm39) missense probably damaging 1.00
R9794:Rbm12b2 UTSW 4 12,095,335 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACAGGAAGATGATTTTAGGCAG -3'
(R):5'- GATCAAAGTTCACAAAGGGATGTTG -3'

Sequencing Primer
(F):5'- TTTAGGCAGTGTCATGAGAAAGATC -3'
(R):5'- GTTCACAAAGGGATGTTGACCTC -3'
Posted On 2017-08-16