Incidental Mutation 'IGL00848:Khdrbs2'
ID 11602
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 # IGL00848
Quality Score
Status
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32511833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 266 (A266V)
Ref Sequence ENSEMBL: ENSMUSP00000027226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226]
AlphaFold Q9WU01
Predicted Effect probably benign
Transcript: ENSMUST00000027226
AA Change: A266V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058
AA Change: A266V

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: ENSMUST00000195178
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,370,237 (GRCm39) F508L probably damaging Het
Adgra3 C T 5: 50,159,291 (GRCm39) G320R probably damaging Het
Arhgef40 G A 14: 52,224,884 (GRCm39) V10M probably damaging Het
Birc6 C T 17: 75,003,388 (GRCm39) Q4739* probably null Het
Cdcp3 A G 7: 130,848,453 (GRCm39) E869G probably damaging Het
Cdh20 C T 1: 104,861,981 (GRCm39) H54Y probably benign Het
Cep112 A G 11: 108,362,886 (GRCm39) D202G probably damaging Het
Cfhr2 T A 1: 139,758,970 (GRCm39) T27S probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Copa T A 1: 171,938,255 (GRCm39) C523S possibly damaging Het
Copz1 T A 15: 103,207,176 (GRCm39) probably benign Het
Crybg1 A C 10: 43,843,814 (GRCm39) probably null Het
Cyp3a11 A T 5: 145,799,275 (GRCm39) I304N probably damaging Het
Eif2d C T 1: 131,092,173 (GRCm39) Q315* probably null Het
Fgfr4 A G 13: 55,306,983 (GRCm39) E224G probably damaging Het
Fndc3b A T 3: 27,505,658 (GRCm39) L870Q probably damaging Het
Glt8d2 C T 10: 82,497,999 (GRCm39) probably null Het
Gpat3 A T 5: 101,041,010 (GRCm39) M357L probably benign Het
Hrnr A T 3: 93,230,204 (GRCm39) K147N unknown Het
Kbtbd3 T A 9: 4,331,184 (GRCm39) S519R probably damaging Het
Kcnv1 A G 15: 44,976,624 (GRCm39) I221T probably benign Het
Lmtk2 A G 5: 144,113,216 (GRCm39) E1312G probably benign Het
Mos T C 4: 3,871,459 (GRCm39) N119S probably damaging Het
Mtpap C T 18: 4,380,717 (GRCm39) H132Y probably benign Het
Myo18b G A 5: 113,019,351 (GRCm39) T642I probably damaging Het
Myo5c A G 9: 75,196,463 (GRCm39) E1303G probably benign Het
Napepld A T 5: 21,888,191 (GRCm39) M86K probably benign Het
Nvl T A 1: 180,932,690 (GRCm39) D709V probably damaging Het
Pak1ip1 A T 13: 41,166,099 (GRCm39) E341D probably benign Het
Pgghg G A 7: 140,522,317 (GRCm39) G32D probably damaging Het
Phlpp1 G A 1: 106,303,985 (GRCm39) R1096H probably damaging Het
Phlpp1 C T 1: 106,267,178 (GRCm39) T697M probably damaging Het
Piwil4 T G 9: 14,638,707 (GRCm39) T273P probably damaging Het
Pkd2l1 A T 19: 44,180,718 (GRCm39) probably benign Het
Polr3b A G 10: 84,516,241 (GRCm39) D623G probably damaging Het
Pop1 A G 15: 34,508,875 (GRCm39) T317A probably benign Het
Prune2 A T 19: 17,096,482 (GRCm39) K662I probably damaging Het
Ptger4 T C 15: 5,264,589 (GRCm39) I356V probably benign Het
Rhbdd1 T C 1: 82,318,165 (GRCm39) L16P possibly damaging Het
Rps11 C T 7: 44,772,925 (GRCm39) R22Q probably benign Het
Sfxn2 A T 19: 46,578,596 (GRCm39) I204F probably damaging Het
Slc26a9 C T 1: 131,685,266 (GRCm39) S365F probably damaging Het
Slc47a2 C T 11: 61,193,059 (GRCm39) V565M probably benign Het
Spns1 T C 7: 125,970,414 (GRCm39) probably null Het
Stk3 T A 15: 35,114,768 (GRCm39) E48V possibly damaging Het
Svs3b T C 2: 164,098,021 (GRCm39) E100G probably damaging Het
Tjp1 T C 7: 64,952,942 (GRCm39) Q1464R probably benign Het
Tspan10 T C 11: 120,335,096 (GRCm39) S69P probably benign Het
Usp32 T C 11: 84,942,007 (GRCm39) probably benign Het
Vps45 G T 3: 95,964,285 (GRCm39) probably benign Het
Zfp106 A T 2: 120,343,208 (GRCm39) N1790K probably damaging Het
Zfp704 A T 3: 9,630,299 (GRCm39) S21T possibly damaging Het
Other mutations in Khdrbs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01839:Khdrbs2 APN 1 32,453,943 (GRCm39) splice site probably benign
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 2012-12-06