Incidental Mutation 'R1156:Khdrbs2'
ID 101702
Institutional Source Beutler Lab
Gene Symbol Khdrbs2
Ensembl Gene ENSMUSG00000026058
Gene Name KH domain containing, RNA binding, signal transduction associated 2
Synonyms SLM-1, 6330586C16Rik
MMRRC Submission 039229-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R1156 (G1)
Quality Score 168
Status Not validated
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32506956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 200 (T200K)
Ref Sequence ENSEMBL: ENSMUSP00000027226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226]
AlphaFold Q9WU01
Predicted Effect probably benign
Transcript: ENSMUST00000027226
AA Change: T200K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058
AA Change: T200K

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.2%
  • 10x: 94.8%
  • 20x: 86.8%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T C 1: 38,243,991 (GRCm39) T927A probably benign Het
Ankrd13b G T 11: 77,363,687 (GRCm39) H425Q probably damaging Het
Ano7 C A 1: 93,329,574 (GRCm39) probably null Het
Cachd1 T C 4: 100,845,816 (GRCm39) L1000P probably damaging Het
Dennd4c A G 4: 86,725,703 (GRCm39) D719G probably damaging Het
Ehbp1l1 G T 19: 5,758,364 (GRCm39) probably benign Het
Eml3 A G 19: 8,911,494 (GRCm39) T326A probably damaging Het
Exoc6 T A 19: 37,671,345 (GRCm39) N778K probably benign Het
Fat1 G A 8: 45,492,927 (GRCm39) R3883H possibly damaging Het
Kcnt2 T A 1: 140,356,593 (GRCm39) V344D probably damaging Het
Mtap A T 4: 89,089,459 (GRCm39) T148S probably benign Het
Nos3 T C 5: 24,582,617 (GRCm39) V615A probably benign Het
Nudt9 G A 5: 104,198,596 (GRCm39) W37* probably null Het
Obp2a A G 2: 25,591,604 (GRCm39) K108R possibly damaging Het
Or14j3 T A 17: 37,900,408 (GRCm39) T279S possibly damaging Het
Sec23a A T 12: 59,048,622 (GRCm39) S167T probably benign Het
Strn A G 17: 78,964,360 (GRCm39) I535T probably damaging Het
Ttn G A 2: 76,804,747 (GRCm39) T206M probably damaging Het
Vwf T C 6: 125,614,451 (GRCm39) C1111R probably damaging Het
Zfp831 C A 2: 174,488,710 (GRCm39) H1128Q possibly damaging Het
Zup1 T C 10: 33,825,222 (GRCm39) T87A probably benign 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
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
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
Predicted Primers
Posted On 2014-01-15