Incidental Mutation 'R8032:Rbmxl2'
ID 618026
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 # R8032 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 106808652-106810123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106809429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 238 (Y238C)
Ref Sequence ENSEMBL: ENSMUSP00000095739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098135]
AlphaFold Q9DAE2
Predicted Effect probably damaging
Transcript: ENSMUST00000098135
AA Change: Y238C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095739
Gene: ENSMUSG00000073894
AA Change: Y238C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T A 4: 154,751,955 (GRCm39) E60D probably benign Het
Adamts12 T C 15: 11,259,189 (GRCm39) probably null Het
Ak9 T A 10: 41,300,616 (GRCm39) C1609S unknown Het
Aox1 A T 1: 58,389,442 (GRCm39) Y1147F probably benign Het
Atf7ip T C 6: 136,542,110 (GRCm39) F615L probably benign Het
BC005624 A G 2: 30,865,901 (GRCm39) probably null Het
BC024063 T A 10: 81,943,738 (GRCm39) M33K probably benign Het
Bmpr2 T A 1: 59,906,502 (GRCm39) S532T probably benign Het
Cast G A 13: 74,883,360 (GRCm39) Q292* probably null Het
Ccdc7a G T 8: 129,551,864 (GRCm39) H1249N unknown Het
Cd177 C T 7: 24,455,594 (GRCm39) W309* probably null Het
Col15a1 T C 4: 47,288,108 (GRCm39) I4T unknown Het
Cyp2c39 A G 19: 39,499,426 (GRCm39) I38V probably benign Het
Dmpk A G 7: 18,821,978 (GRCm39) D312G possibly damaging Het
Dnah1 T C 14: 30,993,505 (GRCm39) D2892G probably damaging Het
Dnah10 G A 5: 124,823,676 (GRCm39) D566N probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Exd2 T A 12: 80,536,427 (GRCm39) D352E probably benign Het
Fgf8 A T 19: 45,725,676 (GRCm39) L187Q probably damaging Het
Frrs1 A G 3: 116,672,009 (GRCm39) I36V probably benign Het
Gga2 A T 7: 121,620,210 (GRCm39) probably null Het
Gigyf2 C G 1: 87,334,735 (GRCm39) H249D unknown Het
Gli2 A T 1: 118,763,900 (GRCm39) M1417K probably damaging Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Gm49380 A T 9: 44,023,000 (GRCm39) I416N probably damaging Het
Gpr137 T C 19: 6,919,480 (GRCm39) T16A unknown Het
Grid1 T A 14: 35,045,316 (GRCm39) D386E probably benign Het
Grm3 A G 5: 9,562,272 (GRCm39) V526A probably benign Het
Havcr2 A T 11: 46,370,118 (GRCm39) I231F probably damaging Het
Icam5 C A 9: 20,944,514 (GRCm39) R72S probably benign Het
Ighv9-2 T A 12: 114,072,764 (GRCm39) I70L possibly damaging Het
Inpp5e C T 2: 26,286,865 (GRCm39) S119N Het
Kash5 CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC 7: 44,837,608 (GRCm39) probably benign Het
Kash5 TCAGGC TCAGGCACAGGC 7: 44,837,630 (GRCm39) probably benign Het
Kxd1 T A 8: 70,966,791 (GRCm39) D110V possibly damaging Het
Mbd4 A G 6: 115,821,594 (GRCm39) S474P probably damaging Het
Meaf6 C A 4: 124,996,795 (GRCm39) H168Q unknown Het
Nek2 T C 1: 191,558,457 (GRCm39) L254S probably damaging Het
Nhej1 T C 1: 75,007,959 (GRCm39) D104G probably benign Het
Nmnat3 A G 9: 98,292,271 (GRCm39) E172G probably benign Het
Npm3 A T 19: 45,736,682 (GRCm39) D152E probably benign Het
Nsd1 A T 13: 55,458,196 (GRCm39) K2103M probably damaging Het
Ntrk3 C T 7: 78,005,807 (GRCm39) R518H probably damaging Het
Nup210 T A 6: 91,051,331 (GRCm39) T351S probably benign Het
Or10h5 T A 17: 33,434,924 (GRCm39) R131S possibly damaging Het
Or9g19 A G 2: 85,600,210 (GRCm39) I22V probably benign Het
Otof T A 5: 30,619,142 (GRCm39) M1L probably benign Het
Pacs2 T A 12: 113,025,278 (GRCm39) Y477N probably damaging Het
Panx3 A G 9: 37,572,966 (GRCm39) Y195H probably damaging Het
Pcsk5 T C 19: 17,692,151 (GRCm39) R178G probably damaging Het
Pde7a A G 3: 19,314,429 (GRCm39) S56P possibly damaging Het
Prcp T G 7: 92,577,906 (GRCm39) C392G probably damaging Het
Prkdc A G 16: 15,597,315 (GRCm39) K2825R probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rbl1 A T 2: 157,029,918 (GRCm39) Y468* probably null Het
Scgb2b20 A T 7: 33,065,724 (GRCm39) M1K probably null Het
Slc25a18 G A 6: 120,769,452 (GRCm39) G237D probably damaging Het
Slc9a3 G A 13: 74,305,763 (GRCm39) G260D probably damaging Het
Sorcs1 A T 19: 50,463,846 (GRCm39) S201R probably benign Het
Strip1 A C 3: 107,525,394 (GRCm39) D547E probably damaging Het
Thsd7a C T 6: 12,555,287 (GRCm39) C199Y Het
Top1mt A G 15: 75,540,572 (GRCm39) V233A probably damaging Het
Tpp2 C G 1: 44,014,628 (GRCm39) P656A possibly damaging Het
Ttc1 A T 11: 43,628,806 (GRCm39) L193Q probably damaging Het
Ttll4 T A 1: 74,735,632 (GRCm39) D1013E possibly damaging Het
Unc5a T C 13: 55,144,299 (GRCm39) V208A possibly damaging Het
Vmn1r185 C A 7: 26,310,558 (GRCm39) V316F probably benign Het
Vmn2r112 T A 17: 22,822,375 (GRCm39) V351E probably benign Het
Wdfy4 T A 14: 32,751,043 (GRCm39) K2391* probably null Het
Zfhx3 T C 8: 109,677,854 (GRCm39) V2968A possibly damaging Het
Zfp551 G A 7: 12,152,487 (GRCm39) A82V possibly damaging Het
Other mutations in Rbmxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03147:Rbmxl2 UTSW 7 106,808,858 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- TAAGGCCATCAAAGTGGCC -3'
(R):5'- AGCCTCGGTACTCGTCATAG -3'

Sequencing Primer
(F):5'- TACACGGGGGATTTCGACCTG -3'
(R):5'- TACTCGTCATAGCGGCCC -3'
Posted On 2020-01-23