Incidental Mutation 'R7939:Khdrbs2'
ID 648905
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 045985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R7939 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 32211795-32697649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32212056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 20 (S20T)
Ref Sequence ENSEMBL: ENSMUSP00000027226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027226] [ENSMUST00000185666] [ENSMUST00000188257] [ENSMUST00000189878]
AlphaFold Q9WU01
Predicted Effect probably benign
Transcript: ENSMUST00000027226
AA Change: S20T

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058
AA Change: S20T

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 possibly damaging
Transcript: ENSMUST00000185666
AA Change: S20T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140451
Gene: ENSMUSG00000026058
AA Change: S20T

DomainStartEndE-ValueType
PDB:2XA6|B 3 36 7e-12 PDB
low complexity region 41 48 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188257
AA Change: S20T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140157
Gene: ENSMUSG00000026058
AA Change: S20T

DomainStartEndE-ValueType
low complexity region 41 48 N/A INTRINSIC
KH 58 122 4.04e-3 SMART
low complexity region 180 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189878
AA Change: S20T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141095
Gene: ENSMUSG00000026058
AA Change: S20T

DomainStartEndE-ValueType
PDB:2XA6|B 3 36 6e-12 PDB
low complexity region 41 48 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,275,433 (GRCm39) I415T probably damaging Het
Ackr3 A G 1: 90,142,287 (GRCm39) S249G probably benign Het
Adgre1 G T 17: 57,756,938 (GRCm39) A732S probably damaging Het
Ahnak T A 19: 8,991,448 (GRCm39) L4244* probably null Het
Aldh3a2 C A 11: 61,115,424 (GRCm39) C511F probably benign Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd11 A T 8: 123,617,812 (GRCm39) H2013Q probably damaging Het
Atp5mc3 A G 2: 73,740,206 (GRCm39) probably null Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Chtf18 A T 17: 25,941,111 (GRCm39) I629N probably damaging Het
Clstn3 T C 6: 124,439,158 (GRCm39) Y33C probably damaging Het
Cmc2 T C 8: 117,616,513 (GRCm39) R71G unknown Het
Cts7 A T 13: 61,504,364 (GRCm39) N66K probably damaging Het
Cysltr2 C T 14: 73,267,399 (GRCm39) V104I possibly damaging Het
Dnai4 G A 4: 102,953,798 (GRCm39) Q134* probably null Het
Dnm3 C T 1: 162,123,165 (GRCm39) V460I possibly damaging Het
Ecel1 C T 1: 87,077,256 (GRCm39) V651I probably benign Het
Ext2 G A 2: 93,560,601 (GRCm39) R522C probably damaging Het
Farp2 T C 1: 93,487,983 (GRCm39) L70P probably damaging Het
Fnip1 T C 11: 54,393,093 (GRCm39) Y510H probably damaging Het
Gm15446 T C 5: 110,090,360 (GRCm39) V204A probably benign Het
Gm29394 T C 15: 57,912,046 (GRCm39) K53E unknown Het
Gm39115 T C 7: 141,689,768 (GRCm39) T2A unknown Het
Helz2 A G 2: 180,879,543 (GRCm39) W692R probably damaging Het
Htra2 A T 6: 83,028,545 (GRCm39) Y428N probably damaging Het
Kifap3 C A 1: 163,643,427 (GRCm39) Y217* probably null Het
Mast2 A T 4: 116,287,668 (GRCm39) S136T probably benign Het
Mesp1 C T 7: 79,442,734 (GRCm39) W181* probably null Het
Mtch1 A C 17: 29,559,806 (GRCm39) S158A probably damaging Het
Mtmr10 C A 7: 63,963,899 (GRCm39) S211R probably benign Het
Mtmr9 C A 14: 63,771,973 (GRCm39) Q204H probably damaging Het
Myo5a A G 9: 75,097,182 (GRCm39) N43D Het
Myom3 G T 4: 135,534,589 (GRCm39) probably null Het
Neb T C 2: 52,076,073 (GRCm39) D5903G probably damaging Het
Niban1 T G 1: 151,581,775 (GRCm39) L457R probably damaging Het
Noxred1 A G 12: 87,268,105 (GRCm39) V342A probably benign Het
Nsd2 T A 5: 34,012,933 (GRCm39) S421R probably benign Het
Or10a3 T C 7: 108,480,481 (GRCm39) I111V probably benign Het
Or5p55 T A 7: 107,566,986 (GRCm39) C127* probably null Het
Oxa1l T C 14: 54,604,876 (GRCm39) C270R probably benign Het
Pcdha3 T A 18: 37,080,933 (GRCm39) N558K probably damaging Het
Pcdha7 T C 18: 37,109,063 (GRCm39) V696A possibly damaging Het
Pigl T C 11: 62,349,506 (GRCm39) L74P probably damaging Het
Plch2 G T 4: 155,087,235 (GRCm39) R339S possibly damaging Het
Prdm11 G T 2: 92,843,074 (GRCm39) D128E probably damaging Het
Ptdss1 A G 13: 67,143,411 (GRCm39) T415A probably benign Het
Ptprj A T 2: 90,295,009 (GRCm39) W400R probably damaging Het
Qdpr T C 5: 45,607,407 (GRCm39) Y13C probably damaging Het
Retsat G A 6: 72,581,919 (GRCm39) M355I probably benign Het
Slc24a1 T G 9: 64,835,648 (GRCm39) E826D probably benign Het
Taok3 T C 5: 117,331,902 (GRCm39) F40L probably benign Het
Tecta T C 9: 42,299,519 (GRCm39) T190A probably damaging Het
Tmem220 C A 11: 66,920,850 (GRCm39) T85K probably damaging Het
Traip T C 9: 107,833,077 (GRCm39) F38L probably benign Het
Tspan1 A T 4: 116,024,209 (GRCm39) I18N probably damaging Het
Ttc24 A T 3: 87,981,945 (GRCm39) D40E possibly damaging Het
Ttn A T 2: 76,542,737 (GRCm39) Y33416* probably null Het
Ttn A T 2: 76,576,105 (GRCm39) D24929E probably damaging Het
Vmn2r16 T A 5: 109,487,705 (GRCm39) S193T possibly damaging Het
Vmn2r83 T A 10: 79,314,651 (GRCm39) W300R probably damaging Het
Vps13a C T 19: 16,718,155 (GRCm39) V522M possibly damaging Het
Wdr17 C A 8: 55,140,677 (GRCm39) R232L probably damaging Het
Wtap A T 17: 13,200,683 (GRCm39) Y33* probably null Het
Zc3h10 A T 10: 128,380,376 (GRCm39) V327E probably damaging Het
Zfp658 T C 7: 43,224,301 (GRCm39) S859P possibly damaging Het
Zfp874b A T 13: 67,622,622 (GRCm39) C225* probably null Het
Zfp980 A T 4: 145,428,582 (GRCm39) H437L 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
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
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'- AATGATAGTCCATAGTCTCCGCG -3'
(R):5'- TAATTGAGCCTCCGAGGAGC -3'

Sequencing Primer
(F):5'- TCCAATAGGAAGCCGGCG -3'
(R):5'- AGGAGCCAGGCATCCAG -3'
Posted On 2020-09-15