Incidental Mutation 'R2384:Khdrbs2'
ID 247623
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 040358-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R2384 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32558976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 369 (S369G)
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 probably damaging
Transcript: ENSMUST00000050429
AA Change: S369G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085635
Gene: ENSMUSG00000049830
AA Change: S369G

DomainStartEndE-ValueType
low complexity region 137 150 N/A INTRINSIC
Pfam:Peptidase_C48 298 477 1.1e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195252
Meta Mutation Damage Score 0.4277 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.5%
Validation Efficiency 100% (37/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933414I15Rik A G 11: 50,833,333 (GRCm39) S90P unknown Het
Abca13 T C 11: 9,217,450 (GRCm39) probably benign Het
Chpf C T 1: 75,451,753 (GRCm39) R567H probably benign Het
Cnp A G 11: 100,467,279 (GRCm39) Y74C probably damaging Het
Cul3 A T 1: 80,261,406 (GRCm39) V273D probably damaging Het
Dnmt3a A G 12: 3,951,591 (GRCm39) Y656C probably damaging Het
Erich3 A T 3: 154,470,288 (GRCm39) E107V possibly damaging Het
Fscn2 T C 11: 120,257,559 (GRCm39) S307P possibly damaging Het
Grm5 A G 7: 87,251,936 (GRCm39) E62G probably damaging Het
Hdac4 T C 1: 91,912,207 (GRCm39) Y394C probably benign Het
Hipk2 A G 6: 38,795,306 (GRCm39) I314T probably damaging Het
Hsd17b12 T A 2: 93,863,964 (GRCm39) I293L probably benign Het
Il36g A G 2: 24,082,660 (GRCm39) H145R probably benign Het
Ints12 T A 3: 132,814,864 (GRCm39) probably null Het
Klrh1 T A 6: 129,749,343 (GRCm39) H84L probably benign Het
Mup5 T A 4: 61,753,261 (GRCm39) probably null Het
Nlrp4g A G 9: 124,349,707 (GRCm38) noncoding transcript Het
Obscn A G 11: 58,933,663 (GRCm39) probably null Het
Ogdh C A 11: 6,292,526 (GRCm39) A413D probably damaging Het
Podn T C 4: 107,879,269 (GRCm39) E283G probably damaging Het
Ripk1 A G 13: 34,214,026 (GRCm39) D456G probably benign Het
Saxo4 A C 19: 10,458,646 (GRCm39) probably null Het
Scg3 T C 9: 75,573,008 (GRCm39) T308A probably damaging Het
Sele A G 1: 163,878,344 (GRCm39) T228A probably benign Het
Slc41a3 A G 6: 90,603,393 (GRCm39) E138G probably damaging Het
Tmem161a T C 8: 70,630,204 (GRCm39) V104A probably benign Het
Tmem232 G A 17: 65,709,852 (GRCm39) R479W probably damaging Het
Trim26 C T 17: 37,161,781 (GRCm39) P67S probably damaging Het
Trpm8 A G 1: 88,287,378 (GRCm39) Y787C probably benign Het
Ttc28 T A 5: 111,424,074 (GRCm39) V1447D possibly damaging Het
Uaca G A 9: 60,777,199 (GRCm39) A527T probably damaging Het
Ucp2 A G 7: 100,147,461 (GRCm39) I172V probably benign Het
Zzef1 T A 11: 72,749,220 (GRCm39) Y903N 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
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 PCR Primer
(F):5'- GGAATCTCCTCTATTGTCACACTG -3'
(R):5'- CCTGAAGAACAGTCAGTGGC -3'

Sequencing Primer
(F):5'- GTACTGCTTCCACTCCAAAGGG -3'
(R):5'- ACAGTCAGTGGCTCAATGATG -3'
Posted On 2014-11-11