Incidental Mutation 'R5465:Khdrbs2'
ID 433190
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 043026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R5465 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32658255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 272 (Y272H)
Ref Sequence ENSEMBL: ENSMUSP00000027226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226]
AlphaFold Q9WU01
Predicted Effect probably damaging
Transcript: ENSMUST00000027226
AA Change: Y272H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058
AA Change: Y272H

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aplp1 T C 7: 30,136,277 (GRCm39) D500G probably benign Het
Atg7 G A 6: 114,629,493 (GRCm39) G4R probably benign Het
Atp11b G A 3: 35,864,333 (GRCm39) V302I probably benign Het
Cacna1b C T 2: 24,540,438 (GRCm39) probably null Het
Ccna1 T C 3: 54,953,065 (GRCm39) H234R probably benign Het
Cplx2 G A 13: 54,527,352 (GRCm39) E79K possibly damaging Het
Dnai4 T A 4: 102,906,758 (GRCm39) D685V probably damaging Het
Gnb2 A G 5: 137,526,775 (GRCm39) I380T probably damaging Het
Gpr162 A T 6: 124,838,134 (GRCm39) V172D probably damaging Het
Gtf2a1 A C 12: 91,534,565 (GRCm39) F191V possibly damaging Het
Ift172 A T 5: 31,418,862 (GRCm39) probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Map1a T C 2: 121,136,506 (GRCm39) S2203P probably damaging Het
Map3k1 A T 13: 111,892,654 (GRCm39) L867Q probably benign Het
Ncapd2 A T 6: 125,153,746 (GRCm39) F656L probably damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or5b109 T C 19: 13,212,052 (GRCm39) I146T probably benign Het
Or7c70 T C 10: 78,682,852 (GRCm39) K299R probably benign Het
Pcdhb6 A T 18: 37,467,783 (GRCm39) I235F probably damaging Het
Pzp A G 6: 128,463,924 (GRCm39) S1395P probably damaging Het
Ralgapb C A 2: 158,290,325 (GRCm39) T412N possibly damaging Het
Rtn4r A T 16: 17,969,291 (GRCm39) M240L probably benign Het
Slit2 C T 5: 48,407,254 (GRCm39) T895I probably damaging Het
Slx4ip T G 2: 136,846,867 (GRCm39) L44R probably damaging Het
Sptbn2 C A 19: 4,800,133 (GRCm39) Q2196K probably benign Het
Tbc1d16 G A 11: 119,046,885 (GRCm39) S454L probably benign Het
Tet1 T C 10: 62,675,556 (GRCm39) H840R probably benign Het
Usp47 C T 7: 111,658,209 (GRCm39) T176M probably damaging Het
Utp6 A T 11: 79,839,836 (GRCm39) I284N probably benign Het
Vcpip1 T C 1: 9,817,372 (GRCm39) H337R probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L 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
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
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 PCR Primer
(F):5'- GGTGTTTCTCTATCATTGAAGACTGAG -3'
(R):5'- GGAGATTAAATCCACTGCTTAAAACCC -3'

Sequencing Primer
(F):5'- ACACACACAAATGTTTTCCTCATC -3'
(R):5'- CCACTGCTTAAAACCCTCATATAATC -3'
Posted On 2016-10-06