Incidental Mutation 'IGL03147:Rbmxl2'
ID 453116
Institutional Source Beutler Lab
Gene Symbol Rbmxl2
Ensembl Gene ENSMUSG00000073894
Gene Name RNA binding motif protein, X-linked-like 2
Synonyms 1700012H05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # IGL03147 (G1)
Quality Score 197
Status Validated
Chromosome 7
Chromosomal Location 106808652-106810123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 106808858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 48 (S48A)
Ref Sequence ENSEMBL: ENSMUSP00000095739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098135]
AlphaFold Q9DAE2
Predicted Effect probably benign
Transcript: ENSMUST00000098135
AA Change: S48A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000095739
Gene: ENSMUSG00000073894
AA Change: S48A

DomainStartEndE-ValueType
RRM 9 82 1.12e-26 SMART
low complexity region 91 125 N/A INTRINSIC
Pfam:RBM1CTR 169 214 9.9e-21 PFAM
Blast:RRM 219 250 5e-11 BLAST
low complexity region 285 307 N/A INTRINSIC
low complexity region 316 337 N/A INTRINSIC
low complexity region 358 384 N/A INTRINSIC
Meta Mutation Damage Score 0.2390 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 91% (39/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Acan A G 7: 78,740,804 (GRCm39) E390G probably damaging Het
Ano3 A G 2: 110,527,763 (GRCm39) S552P probably damaging Het
Ccser1 A G 6: 61,289,144 (GRCm39) S436G probably benign Het
Chek2 A G 5: 110,996,536 (GRCm39) D166G probably damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Deup1 A T 9: 15,521,910 (GRCm39) M85K probably damaging Het
Dnaaf10 G A 11: 17,179,845 (GRCm39) G282E probably damaging Het
Exo1 A G 1: 175,716,354 (GRCm39) Y157C probably damaging Het
Ext1 T A 15: 52,951,468 (GRCm39) I539F probably damaging Het
Gcn1 T C 5: 115,748,917 (GRCm39) V1849A possibly damaging Het
Gpr161 A G 1: 165,144,877 (GRCm39) T389A probably benign Het
Hjurp TGGG TTGCGGG 1: 88,194,002 (GRCm39) probably benign Het
Mir205hg T A 1: 193,189,768 (GRCm39) noncoding transcript Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Ncoa1 T A 12: 4,309,342 (GRCm39) Y1318F probably damaging Het
Or4c120 A G 2: 89,001,316 (GRCm39) M80T probably benign Het
Pml T C 9: 58,137,326 (GRCm39) H491R possibly damaging Het
Rgs6 A G 12: 83,138,620 (GRCm39) D318G probably damaging Het
Rmc1 T C 18: 12,302,286 (GRCm39) probably benign Het
Sfi1 G A 11: 3,136,080 (GRCm39) T84I possibly damaging Het
Slc2a2 A G 3: 28,773,519 (GRCm39) M275V possibly damaging Het
Sp110 GC GCC 1: 85,519,288 (GRCm39) probably null Het
Specc1 T C 11: 62,009,108 (GRCm39) V288A probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Srsf11 C T 3: 157,732,377 (GRCm39) V118I probably damaging Het
St8sia2 C A 7: 73,616,567 (GRCm39) C136F probably damaging Het
Stmn3 A T 2: 180,950,993 (GRCm39) I21N possibly damaging Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Ttn T A 2: 76,542,311 (GRCm39) K25231N probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Vmn1r11 A T 6: 57,114,650 (GRCm39) I68F probably damaging Het
Zfr T A 15: 12,140,638 (GRCm39) Y228* probably null Het
Other mutations in Rbmxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1958:Rbmxl2 UTSW 7 106,809,405 (GRCm39) missense probably benign 0.06
R2435:Rbmxl2 UTSW 7 106,809,538 (GRCm39) missense probably damaging 1.00
R3107:Rbmxl2 UTSW 7 106,809,624 (GRCm39) missense probably damaging 0.98
R5020:Rbmxl2 UTSW 7 106,809,414 (GRCm39) missense probably damaging 1.00
R5243:Rbmxl2 UTSW 7 106,809,044 (GRCm39) missense probably damaging 0.99
R5444:Rbmxl2 UTSW 7 106,809,044 (GRCm39) missense probably damaging 0.99
R8032:Rbmxl2 UTSW 7 106,809,429 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCGAGGAGCTCAGTGTC -3'
(R):5'- TCGAATAGCTCTCCCGGGG -3'

Sequencing Primer
(F):5'- GGCTCTTCACCACCTCAATCG -3'
(R):5'- AGGTCGAAATCCCCCGTGTAG -3'
Posted On 2017-01-27