Incidental Mutation 'R3417:Strbp'
ID 266830
Institutional Source Beutler Lab
Gene Symbol Strbp
Ensembl Gene ENSMUSG00000026915
Gene Name spermatid perinuclear RNA binding protein
Synonyms Spnr, C230082I21Rik, 6430510M02Rik
MMRRC Submission 040635-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R3417 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 37459880-37593890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 37480737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Threonine at position 610 (R610T)
Ref Sequence ENSEMBL: ENSMUSP00000139145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028279] [ENSMUST00000072186] [ENSMUST00000183690]
AlphaFold Q91WM1
Predicted Effect possibly damaging
Transcript: ENSMUST00000028279
AA Change: R610T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915
AA Change: R610T

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000072186
AA Change: R610T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915
AA Change: R610T

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183690
AA Change: R610T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
AA Change: R610T

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203861
Predicted Effect probably benign
Transcript: ENSMUST00000204569
Meta Mutation Damage Score 0.0768 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (54/55)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,224,302 (GRCm39) probably benign Het
Adgrl2 T C 3: 148,564,965 (GRCm39) Y201C probably damaging Het
Ankar A G 1: 72,698,135 (GRCm39) probably null Het
Ankrd17 G A 5: 90,391,772 (GRCm39) T1857I possibly damaging Het
Atp6v0d2 A G 4: 19,888,829 (GRCm39) probably benign Het
Cep170 G T 1: 176,583,610 (GRCm39) P923Q probably damaging Het
Cfc1 A T 1: 34,575,457 (GRCm39) R44* probably null Het
Col6a1 C T 10: 76,548,203 (GRCm39) V618M unknown Het
Crmp1 A T 5: 37,426,031 (GRCm39) I159L possibly damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Cyp4f39 T C 17: 32,708,716 (GRCm39) V421A possibly damaging Het
Ero1a T C 14: 45,525,323 (GRCm39) T401A possibly damaging Het
Exoc6b C G 6: 84,867,547 (GRCm39) L288F possibly damaging Het
Fsip2 G A 2: 82,816,854 (GRCm39) V4196I possibly damaging Het
Icosl A T 10: 77,907,869 (GRCm39) N143I possibly damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Irag1 T C 7: 110,476,161 (GRCm39) T597A possibly damaging Het
Jrk A G 15: 74,578,734 (GRCm39) Y184H probably damaging Het
Kdm5b T C 1: 134,515,715 (GRCm39) L113P probably damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Lrp12 A G 15: 39,741,678 (GRCm39) F365L probably damaging Het
Lrrc37 A T 11: 103,505,435 (GRCm39) S2178T possibly damaging Het
Map4k5 A T 12: 69,856,038 (GRCm39) V716E probably damaging Het
Mcm9 T C 10: 53,413,503 (GRCm39) T1264A possibly damaging Het
Mia3 T A 1: 183,143,444 (GRCm39) D100V probably damaging Het
Mrgprb2 C A 7: 48,202,281 (GRCm39) R148L probably damaging Het
Mterf1a A G 5: 3,940,795 (GRCm39) S358P probably damaging Het
Myd88 T C 9: 119,166,556 (GRCm39) I253V possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nqo2 G T 13: 34,163,616 (GRCm39) V92L probably benign Het
Or4k2 T A 14: 50,424,069 (GRCm39) T202S possibly damaging Het
Pcdhb15 A T 18: 37,608,216 (GRCm39) N483Y probably damaging Het
Pds5a A G 5: 65,795,235 (GRCm39) F667S probably damaging Het
Plxnb1 C A 9: 108,929,828 (GRCm39) A228E probably damaging Het
Prpsap1 T C 11: 116,369,410 (GRCm39) S179G probably benign Het
Rtl4 C T X: 143,902,901 (GRCm39) Q108* probably null Het
Scn8a A G 15: 100,869,549 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc44a1 G A 4: 53,553,549 (GRCm39) V519I probably benign Het
Smg1 G C 7: 117,748,076 (GRCm39) probably benign Het
Sptlc2 A G 12: 87,393,582 (GRCm39) probably benign Het
St13 A T 15: 81,253,651 (GRCm39) probably benign Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tex55 A C 16: 38,649,102 (GRCm39) D2E probably benign Het
Tgm3 G A 2: 129,889,692 (GRCm39) V629M possibly damaging Het
Tnr T C 1: 159,722,612 (GRCm39) V1019A probably benign Het
Ttn A T 2: 76,615,908 (GRCm39) C14932* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Other mutations in Strbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Strbp APN 2 37,476,516 (GRCm39) splice site probably benign
IGL00656:Strbp APN 2 37,493,150 (GRCm39) splice site probably benign
IGL01376:Strbp APN 2 37,535,663 (GRCm39) missense probably damaging 1.00
IGL01998:Strbp APN 2 37,515,297 (GRCm39) missense probably damaging 1.00
IGL02347:Strbp APN 2 37,535,660 (GRCm39) missense probably benign 0.25
IGL02453:Strbp APN 2 37,476,520 (GRCm39) critical splice donor site probably null
IGL02804:Strbp APN 2 37,514,498 (GRCm39) splice site probably benign
IGL03102:Strbp APN 2 37,476,515 (GRCm39) splice site probably benign
PIT4418001:Strbp UTSW 2 37,535,504 (GRCm39) missense probably benign
R0382:Strbp UTSW 2 37,490,838 (GRCm39) missense probably benign 0.00
R0575:Strbp UTSW 2 37,530,885 (GRCm39) missense possibly damaging 0.87
R0610:Strbp UTSW 2 37,474,089 (GRCm39) missense probably damaging 0.97
R0825:Strbp UTSW 2 37,525,539 (GRCm39) missense probably benign 0.00
R1829:Strbp UTSW 2 37,530,921 (GRCm39) missense possibly damaging 0.63
R1831:Strbp UTSW 2 37,515,277 (GRCm39) missense possibly damaging 0.71
R3416:Strbp UTSW 2 37,480,737 (GRCm39) missense possibly damaging 0.94
R4673:Strbp UTSW 2 37,535,691 (GRCm39) missense probably damaging 1.00
R5093:Strbp UTSW 2 37,517,499 (GRCm39) missense probably damaging 0.99
R5099:Strbp UTSW 2 37,493,030 (GRCm39) missense probably damaging 0.98
R5269:Strbp UTSW 2 37,517,455 (GRCm39) missense possibly damaging 0.87
R5378:Strbp UTSW 2 37,490,818 (GRCm39) missense probably benign 0.03
R5378:Strbp UTSW 2 37,489,186 (GRCm39) missense probably damaging 1.00
R5454:Strbp UTSW 2 37,535,495 (GRCm39) missense probably benign 0.00
R5905:Strbp UTSW 2 37,515,267 (GRCm39) missense probably damaging 1.00
R6028:Strbp UTSW 2 37,515,267 (GRCm39) missense probably damaging 1.00
R6374:Strbp UTSW 2 37,493,020 (GRCm39) missense probably damaging 1.00
R6700:Strbp UTSW 2 37,493,975 (GRCm39) missense probably null 0.01
R6800:Strbp UTSW 2 37,515,228 (GRCm39) missense probably damaging 1.00
R7032:Strbp UTSW 2 37,493,125 (GRCm39) missense possibly damaging 0.92
R7139:Strbp UTSW 2 37,514,514 (GRCm39) missense probably benign 0.00
R7261:Strbp UTSW 2 37,531,149 (GRCm39) splice site probably null
R7481:Strbp UTSW 2 37,490,766 (GRCm39) missense probably benign 0.02
R7718:Strbp UTSW 2 37,515,294 (GRCm39) missense probably damaging 1.00
R7959:Strbp UTSW 2 37,530,906 (GRCm39) missense probably benign 0.00
R8921:Strbp UTSW 2 37,514,503 (GRCm39) critical splice donor site probably null
R8936:Strbp UTSW 2 37,493,949 (GRCm39) nonsense probably null
R9742:Strbp UTSW 2 37,515,268 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTATAGTTACTTAGCAGATCCC -3'
(R):5'- TTGCAGATGGTCAACTGAAGAG -3'

Sequencing Primer
(F):5'- TCTATATACTCCTACACATGTGCAG -3'
(R):5'- TGGTCAACTGAAGAGACTAACTATAG -3'
Posted On 2015-02-18