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|Institutional Source||Beutler Lab|
|Gene Name||RNA binding motif protein, X-linked-like 2|
|Is this an essential gene?||Probably non essential (E-score: 0.204)|
|Stock #||R5020 (G1)|
|Chromosomal Location||107209445-107210916 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 107210207 bp|
|Amino Acid Change||Proline to Leucine at position 233 (P233L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095739 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098135]|
|Predicted Effect||probably damaging
AA Change: P233L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: P233L
|Meta Mutation Damage Score||0.3031|
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
|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||
|Other mutations in Rbmxl2||
(F):5'- GGTAAGGCCATCAAAGTGGC -3'
(R):5'- AGCCTCGGTACTCGTCATAG -3'
(F):5'- TACACGGGGGATTTCGACCTG -3'
(R):5'- TACTCGTCATAGCGGCCC -3'