Incidental Mutation 'R2435:Rbmxl2'
ID 249547
Institutional Source Beutler Lab
Gene Symbol Rbmxl2
Ensembl Gene ENSMUSG00000073894
Gene Name RNA binding motif protein, X-linked-like 2
Synonyms 1700012H05Rik
MMRRC Submission 040396-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R2435 (G1)
Quality Score 220
Status Not validated
Chromosome 7
Chromosomal Location 106808652-106810123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106809538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 274 (S274R)
Ref Sequence ENSEMBL: ENSMUSP00000095739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098135]
AlphaFold Q9DAE2
Predicted Effect probably damaging
Transcript: ENSMUST00000098135
AA Change: S274R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095739
Gene: ENSMUSG00000073894
AA Change: S274R

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,898,294 (GRCm39) T226I probably benign Het
Acvr1 T C 2: 58,369,704 (GRCm39) N102D probably damaging Het
Cd34 T A 1: 194,621,334 (GRCm39) C21S probably damaging Het
Cdh18 C T 15: 23,367,094 (GRCm39) R267W probably damaging Het
Ckap5 T A 2: 91,411,490 (GRCm39) N966K probably benign Het
Clec4e A G 6: 123,265,855 (GRCm39) V44A probably damaging Het
Cubn T A 2: 13,323,083 (GRCm39) N2828I probably damaging Het
Dnah10 G T 5: 124,839,929 (GRCm39) probably null Het
Fshr A T 17: 89,508,024 (GRCm39) V6D unknown Het
Gcc2 A G 10: 58,130,602 (GRCm39) D1398G probably damaging Het
Gpi1 G A 7: 33,905,254 (GRCm39) A390V probably damaging Het
Gypa G T 8: 81,233,397 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifna13 T A 4: 88,562,366 (GRCm39) Q86L probably damaging Het
Itgae T A 11: 73,012,763 (GRCm39) C698* probably null Het
Ivns1abp T C 1: 151,239,061 (GRCm39) V625A probably benign Het
Kcnh2 A G 5: 24,531,345 (GRCm39) probably null Het
Kcnj6 G A 16: 94,563,538 (GRCm39) T320M probably damaging Het
Mblac2 T C 13: 81,898,368 (GRCm39) I248T probably damaging Het
Muc5ac A T 7: 141,371,841 (GRCm39) Y2647F possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4k15 T C 14: 50,364,211 (GRCm39) M59T probably damaging Het
Or6c217 G T 10: 129,738,173 (GRCm39) N135K possibly damaging Het
Pard3b T A 1: 62,626,897 (GRCm39) V1059E probably damaging Het
Pkd1l3 A C 8: 110,377,334 (GRCm39) I1585L probably benign Het
Pramel31 A T 4: 144,089,473 (GRCm39) I264F possibly damaging Het
Prrc2b A T 2: 32,109,741 (GRCm39) S1791C probably damaging Het
Serpini2 T C 3: 75,165,475 (GRCm39) E168G probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sis A G 3: 72,819,237 (GRCm39) S1440P probably benign Het
Snrnp40 A G 4: 130,278,344 (GRCm39) H283R probably damaging Het
Tcaf2 G T 6: 42,607,298 (GRCm39) Q219K possibly damaging Het
Tenm3 C T 8: 48,740,988 (GRCm39) R803H probably damaging Het
Ugt2b5 T C 5: 87,287,465 (GRCm39) D234G probably damaging Het
Unc13d A G 11: 115,959,514 (GRCm39) F653S probably damaging Het
Unc93b1 A G 19: 3,986,373 (GRCm39) I136V possibly damaging Het
Utp20 A G 10: 88,656,753 (GRCm39) S151P possibly damaging Het
Vmn2r50 C A 7: 9,787,026 (GRCm39) W27L probably benign Het
Zan T C 5: 137,436,836 (GRCm39) S2006G unknown 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
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'- GATTTCGACCTGCGGCCTTC -3'
(R):5'- TTCGTTCTACAGACGGCG -3'

Sequencing Primer
(F):5'- CCCGGGAGAGCTATTCGAG -3'
(R):5'- TTCTACAGACGGCGGCAGC -3'
Posted On 2014-11-12