Incidental Mutation 'R1055:Khdrbs2'
ID 94238
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 039145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R1055 (G1)
Quality Score 191
Status Validated
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 32683238 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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.3%
  • 20x: 87.5%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 64,210,724 (GRCm39) V168A possibly damaging Het
A1cf C A 19: 31,909,919 (GRCm39) T237N probably benign Het
Actl10 A T 2: 154,394,588 (GRCm39) Q180L probably benign Het
Adcy1 T C 11: 7,059,075 (GRCm39) L327P probably damaging Het
Adcy7 T C 8: 89,044,685 (GRCm39) probably benign Het
Ahctf1 G A 1: 179,591,051 (GRCm39) T1243I possibly damaging Het
Akap6 C T 12: 52,927,455 (GRCm39) Q122* probably null Het
Apob G A 12: 8,044,963 (GRCm39) G861D probably damaging Het
Arhgef11 A C 3: 87,624,425 (GRCm39) T539P probably benign Het
Cd244a T A 1: 171,404,844 (GRCm39) V232E probably damaging Het
Chia1 A C 3: 106,038,199 (GRCm39) D365A probably damaging Het
Clpsl2 C T 17: 28,768,500 (GRCm39) Q5* probably null Het
Clrn1 T A 3: 58,772,531 (GRCm39) I117F probably benign Het
Csmd3 A G 15: 47,744,933 (GRCm39) L1354P probably damaging Het
Csn2 G A 5: 87,842,596 (GRCm39) P144S possibly damaging Het
Dcdc2a T A 13: 25,286,593 (GRCm39) M172K probably damaging Het
Dnah9 A T 11: 66,050,837 (GRCm39) W152R probably damaging Het
Dnmt3a T A 12: 3,922,864 (GRCm39) S82T probably benign Het
Ebf1 A G 11: 44,523,602 (GRCm39) K146E probably damaging Het
Gfpt2 A C 11: 49,718,038 (GRCm39) R504S probably damaging Het
Gpank1 T A 17: 35,343,284 (GRCm39) S255T probably damaging Het
Greb1 T C 12: 16,732,252 (GRCm39) M1570V probably damaging Het
Gtf2i A T 5: 134,292,478 (GRCm39) I403K probably damaging Het
Hoxc11 T A 15: 102,863,270 (GRCm39) C104S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ilrun T C 17: 27,986,910 (GRCm39) N272S probably damaging Het
Lix1l G T 3: 96,528,626 (GRCm39) G200V probably damaging Het
Lrrc23 T C 6: 124,755,114 (GRCm39) N141S probably damaging Het
Marchf11 A T 15: 26,309,748 (GRCm39) D134V probably damaging Het
Myo9a A T 9: 59,762,653 (GRCm39) T795S probably benign Het
Nhsl1 T A 10: 18,401,223 (GRCm39) D782E probably benign Het
Nptxr T C 15: 79,674,456 (GRCm39) probably benign Het
Nrp1 A G 8: 129,195,079 (GRCm39) M512V possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or12e7 ATTGCTACTC A 2: 87,287,781 (GRCm39) probably benign Het
Or5b3 G A 19: 13,388,754 (GRCm39) A274T probably benign Het
Pard3 T C 8: 128,104,761 (GRCm39) F267S probably benign Het
Pomt2 G A 12: 87,194,254 (GRCm39) T50M possibly damaging Het
Qsox2 A G 2: 26,104,137 (GRCm39) Y298H probably damaging Het
Rabgap1 A G 2: 37,382,080 (GRCm39) K450E possibly damaging Het
Rpa1 A T 11: 75,193,558 (GRCm39) V591D probably damaging Het
Sall3 A C 18: 81,013,007 (GRCm39) M1143R probably benign Het
Scgb1b19 G T 7: 32,986,768 (GRCm39) A13S unknown Het
Scn1a T C 2: 66,168,340 (GRCm39) T89A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr42e1 T G 8: 118,390,323 (GRCm39) N106T probably damaging Het
Shpk A T 11: 73,105,945 (GRCm39) M266L probably benign Het
Slc34a1 G T 13: 55,550,846 (GRCm39) R139L probably benign Het
Smbd1 C A 16: 32,627,088 (GRCm39) D67Y probably damaging Het
Srd5a3 A G 5: 76,301,485 (GRCm39) N238S probably benign Het
Tmprss2 T C 16: 97,377,462 (GRCm39) N212D probably damaging Het
Uap1 G T 1: 169,984,480 (GRCm39) probably benign Het
Ugt1a6a A G 1: 88,066,736 (GRCm39) M181V probably benign Het
Vmn2r32 C T 7: 7,477,326 (GRCm39) W355* probably null Het
Vmn2r86 T A 10: 130,282,226 (GRCm39) S797C probably damaging Het
Wiz A G 17: 32,606,616 (GRCm39) S40P probably damaging Het
Zfand6 A G 7: 84,265,181 (GRCm39) probably benign Het
Zfp280d G A 9: 72,236,449 (GRCm39) probably null 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
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
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'- TCACCAATGTGTATAGCAGCCTTGTC -3'
(R):5'- CTGCTCACCAATGCTGTGGAAATG -3'

Sequencing Primer
(F):5'- TGAATTCTAAGGCCCATGTTTG -3'
(R):5'- CGAAATTGATCTGTCCAATTTTCTGC -3'
Posted On 2014-01-05