Incidental Mutation 'R4078:Khdrbs2'
ID 316659
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 041623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R4078 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 32558895 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: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (70/73)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,215,359 (GRCm39) L367* probably null Het
Agfg1 T A 1: 82,860,008 (GRCm39) S312T possibly damaging Het
Akap8 C T 17: 32,531,272 (GRCm39) R380Q probably damaging Het
Ambp T A 4: 63,068,680 (GRCm39) K112N probably damaging Het
Arl5c A T 11: 97,884,327 (GRCm39) I88N probably damaging Het
Asah1 A G 8: 41,807,119 (GRCm39) S102P probably damaging Het
Atp10b T C 11: 43,044,110 (GRCm39) V112A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cabs1 G A 5: 88,128,161 (GRCm39) E271K probably damaging Het
Car8 T C 4: 8,169,731 (GRCm39) K259R possibly damaging Het
Ccdc18 C T 5: 108,306,394 (GRCm39) Q270* probably null Het
Cdh4 A G 2: 179,530,966 (GRCm39) E616G possibly damaging Het
Cdk11b C T 4: 155,724,204 (GRCm39) probably benign Het
Cfap74 A G 4: 155,540,128 (GRCm39) D975G probably damaging Het
Col27a1 G T 4: 63,142,669 (GRCm39) R119L probably damaging Het
Col7a1 A G 9: 108,790,059 (GRCm39) N918S unknown Het
Colec11 T C 12: 28,645,246 (GRCm39) N142D possibly damaging Het
Cox7a2 G A 9: 79,665,852 (GRCm39) Q10* probably null Het
Cyp2b23 C A 7: 26,372,517 (GRCm39) G366V probably damaging Het
Eif1ad3 A G 12: 87,843,401 (GRCm39) K16R unknown Het
Emsy G A 7: 98,239,932 (GRCm39) P1108S probably damaging Het
Etl4 A T 2: 20,812,772 (GRCm39) R1442S probably damaging Het
Fam151a G A 4: 106,604,954 (GRCm39) G439S probably benign Het
Fat1 C T 8: 45,442,159 (GRCm39) P1154S probably damaging Het
Fat4 G A 3: 39,034,169 (GRCm39) S2607N probably damaging Het
Fzd7 T A 1: 59,522,948 (GRCm39) M277K possibly damaging Het
Fzd9 A G 5: 135,278,490 (GRCm39) V465A probably benign Het
Gm38706 G T 6: 130,460,700 (GRCm39) noncoding transcript Het
Gm9758 T A 5: 14,961,536 (GRCm39) probably null Het
Gpr3 T C 4: 132,938,226 (GRCm39) T149A probably damaging Het
Heatr9 C A 11: 83,403,254 (GRCm39) K428N probably benign Het
Hgs T A 11: 120,373,874 (GRCm39) S723T probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kcnn3 A G 3: 89,568,495 (GRCm39) K591R possibly damaging Het
Lpp G A 16: 24,500,611 (GRCm39) R141H probably damaging Het
Lrpap1 A G 5: 35,253,381 (GRCm39) I261T possibly damaging Het
Macf1 T A 4: 123,365,884 (GRCm39) Q2959L probably benign Het
Mipep T A 14: 61,083,926 (GRCm39) Y606N probably damaging Het
Mroh5 C A 15: 73,657,889 (GRCm39) C547F possibly damaging Het
Nek3 A T 8: 22,622,153 (GRCm39) W363R probably damaging Het
Nphs1 T A 7: 30,166,945 (GRCm39) Y717* probably null Het
Obscn A G 11: 58,929,189 (GRCm39) V6145A probably benign Het
Optc T C 1: 133,826,087 (GRCm39) H270R probably damaging Het
Or1l4 T A 2: 37,092,024 (GRCm39) I257N possibly damaging Het
Or2l5 T A 16: 19,333,982 (GRCm39) M135L possibly damaging Het
Or5p80 T A 7: 108,230,114 (GRCm39) M305K probably benign Het
Or9r7 G A 10: 129,962,587 (GRCm39) T113I probably damaging Het
Pik3c2g A G 6: 139,612,608 (GRCm39) probably benign Het
Pms1 A T 1: 53,306,948 (GRCm39) probably null Het
Pramel51 T A 12: 88,142,683 (GRCm39) I312F probably benign Het
Prkg1 T C 19: 31,562,978 (GRCm39) Y156C probably damaging Het
Prol1 A G 5: 88,476,075 (GRCm39) N155S unknown Het
Rapgefl1 A G 11: 98,740,803 (GRCm39) T552A probably benign Het
Slc22a28 T A 19: 8,078,777 (GRCm39) H304L probably benign Het
Stox1 C T 10: 62,501,810 (GRCm39) C250Y probably benign Het
Sult2a3 A G 7: 13,855,662 (GRCm39) W65R possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Syne2 C A 12: 76,082,398 (GRCm39) T4857K probably damaging Het
Tcp1 T C 17: 13,136,970 (GRCm39) L64S probably benign Het
Thap11 G T 8: 106,582,548 (GRCm39) E186* probably null Het
Tmem67 A G 4: 12,040,633 (GRCm39) probably null Het
Trappc10 T C 10: 78,046,216 (GRCm39) Y458C probably damaging Het
Ufd1 A G 16: 18,644,528 (GRCm39) Y197C possibly damaging Het
Ung G T 5: 114,268,684 (GRCm39) probably null Het
Usp49 A G 17: 47,985,674 (GRCm39) T245A probably damaging Het
Washc1 A T 17: 66,424,156 (GRCm39) E289D probably benign Het
Zc3h7a A T 16: 10,969,011 (GRCm39) V450E probably benign Het
Zcchc17 T G 4: 130,223,418 (GRCm39) I123L possibly damaging Het
Zfp955a A G 17: 33,460,675 (GRCm39) Y486H 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
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
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'- AAAAGGTCACAGGCTGGTC -3'
(R):5'- GGCTCTGCATGTCTTTAGCAC -3'

Sequencing Primer
(F):5'- GGTCCCTAGCGATGTAATCTGC -3'
(R):5'- TTTACCCCAAACTAAAGCATAGTGG -3'
Posted On 2015-05-15