Incidental Mutation 'R4955:Khdrbs2'
ID 381510
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 042552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R4955 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 32559158 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: ENSMUST00000195252
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4933407L21Rik T A 1: 85,859,008 (GRCm39) probably benign Het
Abca8a T G 11: 109,927,338 (GRCm39) E1338D probably benign Het
Arl2bp G A 8: 95,397,056 (GRCm39) probably null Het
Arsj T C 3: 126,232,189 (GRCm39) Y312H probably benign Het
Atp8b2 G T 3: 89,860,227 (GRCm39) probably benign Het
Cdh20 T C 1: 104,912,528 (GRCm39) V594A probably damaging Het
Cfap44 T A 16: 44,295,640 (GRCm39) V1646E possibly damaging Het
Csmd3 A T 15: 48,536,914 (GRCm39) I96K probably damaging Het
Fbn2 T C 18: 58,191,455 (GRCm39) Q1556R possibly damaging Het
Fstl5 T A 3: 76,131,183 (GRCm39) probably null Het
H4c9 T A 13: 22,225,355 (GRCm39) I47F probably damaging Het
Hivep2 T A 10: 14,006,702 (GRCm39) M1100K probably benign Het
Ing4 C T 6: 125,025,164 (GRCm39) A225V probably damaging Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Kif21a A T 15: 90,821,393 (GRCm39) W1566R probably damaging Het
Lrfn5 A C 12: 61,886,764 (GRCm39) D184A probably benign Het
Mettl2 C T 11: 105,028,605 (GRCm39) T319I possibly damaging Het
Mgrn1 T C 16: 4,752,083 (GRCm39) V529A probably benign Het
Naca T A 10: 127,878,084 (GRCm39) probably benign Het
Ninj2 A G 6: 120,174,907 (GRCm39) N26S probably damaging Het
Nqo1 A G 8: 108,115,489 (GRCm39) S263P probably benign Het
Obscn T C 11: 58,959,998 (GRCm39) T3566A probably benign Het
Opn5 A T 17: 42,922,129 (GRCm39) F24L probably damaging Het
Or14j8 T C 17: 38,263,789 (GRCm39) N42S probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4k41 A T 2: 111,279,950 (GRCm39) H155L probably damaging Het
Or52a20 A T 7: 103,365,912 (GRCm39) Y37F probably benign Het
Palmd A G 3: 116,717,873 (GRCm39) V208A probably damaging Het
Plekhd1 T A 12: 80,768,795 (GRCm39) I426N possibly damaging Het
Polq T G 16: 36,881,444 (GRCm39) Y1203D probably benign Het
Prex1 A G 2: 166,415,143 (GRCm39) F251S probably damaging Het
Prkd3 T C 17: 79,260,156 (GRCm39) M816V probably null Het
Rab3gap2 C T 1: 184,999,352 (GRCm39) probably benign Het
Rcan2 C A 17: 44,347,972 (GRCm39) P13Q probably damaging Het
Slc35b3 A G 13: 39,116,866 (GRCm39) V329A probably benign Het
Slc5a1 T C 5: 33,318,246 (GRCm39) M633T probably benign Het
Stac2 A C 11: 97,934,374 (GRCm39) L110R possibly damaging Het
Styxl2 T C 1: 165,935,661 (GRCm39) Y179C probably damaging Het
Tecpr1 T C 5: 144,154,075 (GRCm39) E126G probably damaging Het
Ttll6 A G 11: 96,029,615 (GRCm39) D176G possibly damaging Het
Utrn C T 10: 12,737,311 (GRCm39) probably null Het
Zfp341 T C 2: 154,479,950 (GRCm39) V467A 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
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'- ATCGATTACCACCAGGCTCC -3'
(R):5'- TTACTCCCCAACAAGATGGCAG -3'

Sequencing Primer
(F):5'- CCAATGTAACCTCTGGTGAATAGGC -3'
(R):5'- CCAACAAGATGGCAGTACTTG -3'
Posted On 2016-04-27