Incidental Mutation 'R3107:Rbmxl2'
ID 263620
Institutional Source Beutler Lab
Gene Symbol Rbmxl2
Ensembl Gene ENSMUSG00000073894
Gene Name RNA binding motif protein, X-linked-like 2
Synonyms 1700012H05Rik
MMRRC Submission 040581-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R3107 (G1)
Quality Score 134
Status Not validated
Chromosome 7
Chromosomal Location 106808652-106810123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106809624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 303 (G303E)
Ref Sequence ENSEMBL: ENSMUSP00000095739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098135]
AlphaFold Q9DAE2
Predicted Effect probably damaging
Transcript: ENSMUST00000098135
AA Change: G303E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095739
Gene: ENSMUSG00000073894
AA Change: G303E

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A T 17: 42,977,758 (GRCm39) Y528* probably null Het
Ankrd26 A T 6: 118,533,204 (GRCm39) F198L probably benign Het
Arnt2 A G 7: 83,911,652 (GRCm39) S607P possibly damaging Het
Brd10 A T 19: 29,700,847 (GRCm39) L814H probably damaging Het
Ccdc17 T C 4: 116,455,464 (GRCm39) V269A probably benign Het
Cers1 T A 8: 70,775,286 (GRCm39) H233Q probably benign Het
Cfap54 T C 10: 92,830,545 (GRCm39) N1197S probably benign Het
Cfb A G 17: 35,080,800 (GRCm39) Y66H possibly damaging Het
Clspn A G 4: 126,485,452 (GRCm39) D1247G probably benign Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Ddt C T 10: 75,608,597 (GRCm39) E42K probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Dnah7b G A 1: 46,392,033 (GRCm39) G3798E probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam114a2 C A 11: 57,390,561 (GRCm39) K317N probably benign Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Gprasp1 A T X: 134,700,508 (GRCm39) M234L probably benign Het
Ibtk T C 9: 85,592,467 (GRCm39) Y997C probably damaging Het
Il12rb2 A G 6: 67,337,782 (GRCm39) V33A probably damaging Het
Ints6 T C 14: 62,998,041 (GRCm39) T23A possibly damaging Het
Itk C A 11: 46,218,291 (GRCm39) G624V probably benign Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mab21l3 T A 3: 101,734,112 (GRCm39) I109F probably damaging Het
Mov10 T C 3: 104,707,040 (GRCm39) E653G probably damaging Het
Or8b51 C T 9: 38,569,307 (GRCm39) C127Y possibly damaging Het
Plg T C 17: 12,603,316 (GRCm39) V74A probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Satb1 A T 17: 52,089,810 (GRCm39) Y346N possibly damaging Het
Serpina1a A T 12: 103,820,100 (GRCm39) I382N probably damaging Het
Slc6a2 C A 8: 93,687,906 (GRCm39) Q11K probably benign Het
Slc6a20a A C 9: 123,470,773 (GRCm39) probably null Het
Sorcs1 T C 19: 50,199,088 (GRCm39) E825G possibly damaging Het
Sval1 C G 6: 41,932,876 (GRCm39) P145A probably damaging Het
Trhde C T 10: 114,427,971 (GRCm39) E442K probably damaging Het
Vmn2r61 A T 7: 41,916,491 (GRCm39) D368V 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
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'- CTACACCTACCGCGACTATG -3'
(R):5'- TAGACTTCCGATGCCAGTCCTG -3'

Sequencing Primer
(F):5'- TACCGCGACTATGGCCACTC -3'
(R):5'- TCAGTACCTGCTCCGGC -3'
Posted On 2015-02-05