Incidental Mutation 'IGL01839:Khdrbs2'
ID 155065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Khdrbs2
Ensembl Gene ENSMUSG00000026058
Gene Name KH domain containing, RNA binding, signal transduction associated 2
Synonyms SLM-1, 6330586C16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # IGL01839
Quality Score
Status
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 32453943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226]
AlphaFold Q9WU01
Predicted Effect probably benign
Transcript: ENSMUST00000027226
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
KH 58 156 4.93e-7 SMART
low complexity region 185 197 N/A INTRINSIC
low complexity region 204 231 N/A INTRINSIC
Pfam:Sam68-YY 267 321 1.3e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186984
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is similar to the src associated in mitosis, 68 kDa protein, which is an RNA-binding protein and a substrate for Src-family tyrosine kinases during mitosis. This protein has a KH RNA-binding motif and proline-rich motifs which may be SH2 and SH3 domain binding sites. A similar rat protein is an RNA-binding protein which is tyrosine phosphorylated by Src during mitosis. These studies also suggest that the rat protein may function as an adaptor protein for Src by binding the SH2 and SH3 domains of various other proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals display smaller brain size and reduced weight in the cerebellum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T A 12: 113,508,242 (GRCm39) L205Q probably benign Het
Cadps G T 14: 12,467,184 (GRCm38) probably benign Het
Cfap69 G A 5: 5,676,027 (GRCm39) Q223* probably null Het
Col11a2 G A 17: 34,283,056 (GRCm39) probably benign Het
Col3a1 T C 1: 45,350,990 (GRCm39) V28A unknown Het
Cyp17a1 A G 19: 46,659,110 (GRCm39) I177T possibly damaging Het
Exoc2 A G 13: 31,090,782 (GRCm39) L274P probably damaging Het
Fastkd3 A G 13: 68,732,971 (GRCm39) R431G probably benign Het
Fat3 T C 9: 15,909,168 (GRCm39) N2278S probably damaging Het
Ift172 G T 5: 31,423,694 (GRCm39) A756E probably damaging Het
Igf2r T C 17: 12,923,909 (GRCm39) Y1087C probably damaging Het
Kmt5a A G 5: 124,589,417 (GRCm39) K205R probably benign Het
Lrrc45 A T 11: 120,607,975 (GRCm39) probably null Het
Ltbp2 T C 12: 84,840,432 (GRCm39) S1045G possibly damaging Het
Nfib T C 4: 82,228,607 (GRCm39) M505V probably benign Het
Oit3 C T 10: 59,265,318 (GRCm39) V316I probably damaging Het
Or1e1f T A 11: 73,855,437 (GRCm39) M1K probably null Het
Or5b119 T C 19: 13,456,804 (GRCm39) T253A probably benign Het
Pcdhb5 A T 18: 37,454,502 (GRCm39) N294I probably damaging Het
Pld4 A T 12: 112,731,513 (GRCm39) H222L probably damaging Het
Sacs T C 14: 61,421,394 (GRCm39) probably benign Het
Sgms2 T C 3: 131,135,751 (GRCm39) K41R possibly damaging Het
Slc22a4 A T 11: 53,886,903 (GRCm39) S280T probably damaging Het
Slc34a1 T C 13: 23,996,668 (GRCm39) S58P possibly damaging Het
Slc7a15 C T 12: 8,589,365 (GRCm39) G61S probably damaging Het
Trrap A G 5: 144,758,685 (GRCm39) K2190E probably damaging Het
Ttn C A 2: 76,644,702 (GRCm39) Q13017H probably damaging Het
Other mutations in Khdrbs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Khdrbs2 APN 1 32,511,833 (GRCm39) missense probably benign 0.00
IGL01326:Khdrbs2 APN 1 32,696,558 (GRCm39) missense possibly damaging 0.94
IGL01767:Khdrbs2 APN 1 32,658,257 (GRCm39) nonsense probably null
IGL01792:Khdrbs2 APN 1 32,696,548 (GRCm39) missense probably damaging 0.99
R0046:Khdrbs2 UTSW 1 32,658,283 (GRCm39) missense possibly damaging 0.56
R0079:Khdrbs2 UTSW 1 32,558,996 (GRCm39) splice site probably null
R0396:Khdrbs2 UTSW 1 32,559,054 (GRCm39) missense probably damaging 1.00
R0613:Khdrbs2 UTSW 1 32,696,603 (GRCm39) missense possibly damaging 0.94
R0616:Khdrbs2 UTSW 1 32,506,856 (GRCm39) missense possibly damaging 0.65
R1034:Khdrbs2 UTSW 1 32,506,872 (GRCm39) missense probably damaging 1.00
R1055:Khdrbs2 UTSW 1 32,683,238 (GRCm39) splice site probably benign
R1156:Khdrbs2 UTSW 1 32,506,956 (GRCm39) missense probably benign 0.04
R1456:Khdrbs2 UTSW 1 32,559,777 (GRCm39) missense possibly damaging 0.71
R2007:Khdrbs2 UTSW 1 32,559,629 (GRCm39) missense probably benign 0.04
R2079:Khdrbs2 UTSW 1 32,506,955 (GRCm39) missense probably benign
R2384:Khdrbs2 UTSW 1 32,558,976 (GRCm39) missense probably damaging 0.97
R3123:Khdrbs2 UTSW 1 32,558,858 (GRCm39) missense probably damaging 0.98
R3124:Khdrbs2 UTSW 1 32,558,858 (GRCm39) missense probably damaging 0.98
R3772:Khdrbs2 UTSW 1 32,283,157 (GRCm39) nonsense probably null
R4078:Khdrbs2 UTSW 1 32,558,895 (GRCm39) intron probably benign
R4088:Khdrbs2 UTSW 1 32,372,605 (GRCm39) missense probably damaging 1.00
R4955:Khdrbs2 UTSW 1 32,559,158 (GRCm39) intron probably benign
R5465:Khdrbs2 UTSW 1 32,658,255 (GRCm39) missense probably damaging 1.00
R5668:Khdrbs2 UTSW 1 32,506,851 (GRCm39) missense probably damaging 1.00
R5792:Khdrbs2 UTSW 1 32,511,773 (GRCm39) missense probably damaging 1.00
R6639:Khdrbs2 UTSW 1 32,506,943 (GRCm39) nonsense probably null
R7027:Khdrbs2 UTSW 1 32,453,997 (GRCm39) missense probably benign 0.02
R7380:Khdrbs2 UTSW 1 32,372,685 (GRCm39) missense unknown
R7381:Khdrbs2 UTSW 1 32,372,883 (GRCm39) missense not run
R7939:Khdrbs2 UTSW 1 32,212,056 (GRCm39) missense probably benign 0.27
R8087:Khdrbs2 UTSW 1 32,454,057 (GRCm39) missense probably benign 0.11
R9347:Khdrbs2 UTSW 1 32,511,828 (GRCm39) missense probably benign 0.00
X0020:Khdrbs2 UTSW 1 32,454,055 (GRCm39) missense probably damaging 1.00
Z1088:Khdrbs2 UTSW 1 32,283,136 (GRCm39) intron probably benign
Z1176:Khdrbs2 UTSW 1 32,372,743 (GRCm39) missense unknown
Z1177:Khdrbs2 UTSW 1 32,283,048 (GRCm39) missense probably benign 0.30
Posted On 2014-02-04