Incidental Mutation 'R0616:Khdrbs2'
ID 58277
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 038805-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R0616 (G1)
Quality Score 209
Status Not validated
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32506856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 167 (I167V)
Ref Sequence ENSEMBL: ENSMUSP00000027226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226]
AlphaFold Q9WU01
Predicted Effect possibly damaging
Transcript: ENSMUST00000027226
AA Change: I167V

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058
AA Change: I167V

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: 98.9%
  • 10x: 97.5%
  • 20x: 95.1%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,341,830 (GRCm39) Q1044K probably damaging Het
Abi3bp A T 16: 56,474,433 (GRCm39) T723S probably damaging Het
Ackr3 G A 1: 90,142,191 (GRCm39) V217I probably benign Het
Acnat2 A G 4: 49,380,269 (GRCm39) S370P probably damaging Het
Arap1 A G 7: 101,050,857 (GRCm39) R1152G possibly damaging Het
Arhgap15 G A 2: 44,006,729 (GRCm39) probably null Het
Arhgap5 C T 12: 52,563,848 (GRCm39) T273I possibly damaging Het
Armh4 G T 14: 50,011,113 (GRCm39) T198K possibly damaging Het
C1s2 T C 6: 124,605,723 (GRCm39) E332G probably damaging Het
Camp G A 9: 109,677,707 (GRCm39) R88W probably benign Het
Cdkl2 A G 5: 92,156,863 (GRCm39) M564T probably benign Het
Ceacam20 A G 7: 19,704,321 (GRCm39) H124R probably benign Het
Cep19 C T 16: 31,922,829 (GRCm39) R32C probably damaging Het
Cep295 G A 9: 15,243,618 (GRCm39) Q1565* probably null Het
Chd3 T C 11: 69,236,313 (GRCm39) E1932G probably damaging Het
Cibar1 G A 4: 12,168,234 (GRCm39) R210* probably null Het
Cnr2 G T 4: 135,644,873 (GRCm39) W317L probably benign Het
Cntnap5a C T 1: 116,508,279 (GRCm39) H1264Y possibly damaging Het
Depdc7 T A 2: 104,557,650 (GRCm39) N200I probably benign Het
Dock4 T C 12: 40,754,414 (GRCm39) S468P probably benign Het
Dscc1 C A 15: 54,946,966 (GRCm39) C253F probably benign Het
Fam217a C A 13: 35,097,666 (GRCm39) S55I probably benign Het
Farp1 G A 14: 121,514,434 (GRCm39) R921H probably damaging Het
Fat4 A G 3: 38,997,019 (GRCm39) D1746G probably damaging Het
Fbxw5 T C 2: 25,392,517 (GRCm39) F100L probably damaging Het
Gli3 C A 13: 15,836,991 (GRCm39) T458K possibly damaging Het
Gm4841 T C 18: 60,404,009 (GRCm39) Y28C probably benign Het
Gprc5d T C 6: 135,093,430 (GRCm39) E159G probably benign Het
Grm4 A T 17: 27,653,538 (GRCm39) I757N probably damaging Het
Hagh A G 17: 25,076,551 (GRCm39) Y94C probably damaging Het
Hycc1 T C 5: 24,191,770 (GRCm39) T44A probably damaging Het
Itpkb T C 1: 180,249,301 (GRCm39) I892T probably damaging Het
Kcmf1 T C 6: 72,827,467 (GRCm39) I58V probably benign Het
Kmt2c A G 5: 25,504,250 (GRCm39) I275T probably benign Het
Lingo4 A G 3: 94,310,388 (GRCm39) K442R probably benign Het
Mak T C 13: 41,195,661 (GRCm39) N382D probably benign Het
Maob G A X: 16,576,402 (GRCm39) T480I possibly damaging Het
Mcoln1 A G 8: 3,565,025 (GRCm39) E573G probably benign Het
Ms4a6b G A 19: 11,504,262 (GRCm39) probably null Het
Muc5ac A G 7: 141,349,981 (GRCm39) M576V probably benign Het
Nme8 T A 13: 19,875,029 (GRCm39) D126V probably benign Het
Npy2r T A 3: 82,448,670 (GRCm39) D35V possibly damaging Het
Nrxn1 T C 17: 90,670,285 (GRCm39) D193G probably damaging Het
Or2g7 A C 17: 38,378,131 (GRCm39) E23A probably damaging Het
Or2y1e T C 11: 49,218,583 (GRCm39) L115P probably damaging Het
Or4c10b T A 2: 89,711,935 (GRCm39) V255E probably benign Het
Or4d5 A T 9: 40,012,283 (GRCm39) F168I probably damaging Het
Or52b4i T A 7: 102,191,761 (GRCm39) M206K possibly damaging Het
Or6d14 A G 6: 116,533,889 (GRCm39) I168V probably benign Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Or8c17 G T 9: 38,180,630 (GRCm39) V266L probably benign Het
Or8g18 G A 9: 39,148,946 (GRCm39) T258M probably benign Het
Pabpc2 A T 18: 39,906,792 (GRCm39) H19L possibly damaging Het
Pcdhb9 A T 18: 37,535,028 (GRCm39) K341* probably null Het
Pde4dip T C 3: 97,654,849 (GRCm39) I859M probably benign Het
Pfkfb2 T C 1: 130,634,159 (GRCm39) probably null Het
Pigg C T 5: 108,461,951 (GRCm39) T94M probably damaging Het
Pik3c2b T C 1: 133,028,569 (GRCm39) F1353L probably damaging Het
Prg4 T C 1: 150,336,462 (GRCm39) D87G probably damaging Het
Prkdc A T 16: 15,508,271 (GRCm39) D974V probably damaging Het
Prmt3 A G 7: 49,437,076 (GRCm39) Y217C probably damaging Het
Proser1 A G 3: 53,382,118 (GRCm39) T192A probably damaging Het
Rab3d G A 9: 21,826,060 (GRCm39) T118M probably damaging Het
Rb1cc1 A G 1: 6,314,486 (GRCm39) K386R possibly damaging Het
Rcn2 A G 9: 55,963,534 (GRCm39) D221G probably benign Het
Rhbdl3 T G 11: 80,222,687 (GRCm39) H245Q probably damaging Het
Ribc1 T C X: 150,788,787 (GRCm39) E204G probably damaging Het
Rpap1 G A 2: 119,608,601 (GRCm39) L254F probably damaging Het
Rrp12 A G 19: 41,880,988 (GRCm39) F148L possibly damaging Het
Rusf1 A T 7: 127,871,803 (GRCm39) probably null Het
Setdb1 A T 3: 95,249,109 (GRCm39) I333K probably damaging Het
Simc1 A G 13: 54,694,845 (GRCm39) I1210V probably benign Het
Smchd1 T A 17: 71,686,569 (GRCm39) D1379V probably benign Het
Snap29 A T 16: 17,240,370 (GRCm39) K159* probably null Het
Spdye4c A T 2: 128,436,132 (GRCm39) K176M possibly damaging Het
Stk31 T A 6: 49,400,419 (GRCm39) W415R probably damaging Het
Supt6 C T 11: 78,100,321 (GRCm39) R1497Q probably damaging Het
Tenm3 A G 8: 48,729,191 (GRCm39) I1605T possibly damaging Het
Ttn T C 2: 76,676,967 (GRCm39) probably null Het
Ttn A G 2: 76,728,011 (GRCm39) probably benign Het
Ucp3 A T 7: 100,129,368 (GRCm39) T68S probably benign Het
Ugt2b36 T C 5: 87,237,336 (GRCm39) N316D probably benign Het
Usp4 T G 9: 108,244,003 (GRCm39) S247A probably benign Het
Utp20 A T 10: 88,606,613 (GRCm39) V1653D probably benign Het
Vmn1r183 A G 7: 23,754,250 (GRCm39) I18V probably benign Het
Vmn1r237 A G 17: 21,534,885 (GRCm39) M203V probably damaging Het
Vmn1r61 A T 7: 5,613,998 (GRCm39) F105L possibly damaging Het
Zfp462 T C 4: 55,011,951 (GRCm39) C158R probably damaging Het
Zfyve16 C G 13: 92,657,637 (GRCm39) R758P 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
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
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'- TGGAAGCATCCCTTTCCACCTCAG -3'
(R):5'- GAGACCTGTGGTCATCATCTGCTG -3'

Sequencing Primer
(F):5'- tgaaatgcctgtgacagattttgag -3'
(R):5'- GCTGTCATCATCTGCTGTTAATACG -3'
Posted On 2013-07-11