Incidental Mutation 'R5029:Sh3bgrl2'
ID 391565
Institutional Source Beutler Lab
Gene Symbol Sh3bgrl2
Ensembl Gene ENSMUSG00000032261
Gene Name SH3 domain binding glutamic acid-rich protein like 2
Synonyms A930014C21Rik
MMRRC Submission 042620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5029 (G1)
Quality Score 106
Status Validated
Chromosome 9
Chromosomal Location 83430391-83482345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83430542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 11 (S11P)
Ref Sequence ENSEMBL: ENSMUSP00000140348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113215] [ENSMUST00000188030] [ENSMUST00000188241]
AlphaFold Q8BG73
Predicted Effect possibly damaging
Transcript: ENSMUST00000113215
AA Change: S11P

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108841
Gene: ENSMUSG00000032261
AA Change: S11P

DomainStartEndE-ValueType
Pfam:SH3BGR 1 98 1.3e-50 PFAM
Pfam:Glutaredoxin 21 76 1.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188030
AA Change: S11P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140348
Gene: ENSMUSG00000032261
AA Change: S11P

DomainStartEndE-ValueType
Pfam:SH3BGR 1 85 8.2e-36 PFAM
Pfam:Glutaredoxin 21 76 5.7e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188241
AA Change: S11P

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140951
Gene: ENSMUSG00000032261
AA Change: S11P

DomainStartEndE-ValueType
Pfam:SH3BGR 1 98 2.1e-47 PFAM
Pfam:Glutaredoxin 21 76 1.1e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188617
Meta Mutation Damage Score 0.2503 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,127 (GRCm39) M154K probably benign Het
Ank T C 15: 27,590,439 (GRCm39) V341A probably benign Het
Bnip3 T A 7: 138,499,848 (GRCm39) probably benign Het
C1galt1 A G 6: 7,863,931 (GRCm39) K4E possibly damaging Het
Cbs T A 17: 31,834,456 (GRCm39) Q511L possibly damaging Het
Ccdc117 T C 11: 5,484,897 (GRCm39) H109R possibly damaging Het
Cdh4 T A 2: 179,523,742 (GRCm39) V440D possibly damaging Het
Cnot4 T C 6: 35,054,962 (GRCm39) N109S probably damaging Het
Dact2 A T 17: 14,416,114 (GRCm39) S695R probably benign Het
Defa21 A T 8: 21,516,381 (GRCm39) E75V probably damaging Het
Dimt1 A G 13: 107,093,630 (GRCm39) D274G probably null Het
Dstyk G T 1: 132,377,062 (GRCm39) V223L probably benign Het
Dync1h1 T A 12: 110,584,444 (GRCm39) S616T possibly damaging Het
Fer1l6 A T 15: 58,515,769 (GRCm39) I1619F probably benign Het
Gm4744 T A 6: 40,926,341 (GRCm39) Y83F probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hpx T G 7: 105,240,971 (GRCm39) Y434S probably damaging Het
Ints4 A G 7: 97,158,981 (GRCm39) D451G probably benign Het
Itgb4 A T 11: 115,879,417 (GRCm39) probably benign Het
Jph1 T A 1: 17,161,615 (GRCm39) N349I possibly damaging Het
Klrg1 A G 6: 122,259,694 (GRCm39) L26P probably benign Het
M1ap A C 6: 82,980,813 (GRCm39) D233A probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mycbp2 A G 14: 103,393,946 (GRCm39) S2762P probably benign Het
Myh11 T A 16: 14,023,489 (GRCm39) Q1556L probably damaging Het
N4bp2 A G 5: 65,972,123 (GRCm39) D1428G probably damaging Het
Ndc80 A C 17: 71,815,760 (GRCm39) C342G probably benign Het
Nxn A C 11: 76,165,356 (GRCm39) Y199* probably null Het
Or6c206 T A 10: 129,097,707 (GRCm39) N292K probably benign Het
Or7c19 C T 8: 85,957,835 (GRCm39) A237V probably benign Het
Or8j3b A G 2: 86,205,234 (GRCm39) I174T probably damaging Het
Pacs1 A G 19: 5,192,299 (GRCm39) F691L probably benign Het
Pcdhga12 T C 18: 37,899,864 (GRCm39) V232A probably benign Het
Pik3cb A T 9: 98,936,113 (GRCm39) M773K probably damaging Het
Plxnb1 T C 9: 108,943,723 (GRCm39) Y1937H probably damaging Het
Ppfia2 C A 10: 106,693,304 (GRCm39) T603N probably benign Het
Psg22 A G 7: 18,453,662 (GRCm39) Y119C probably damaging Het
Saraf G T 8: 34,628,412 (GRCm39) R86L probably damaging Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stpg3 T C 2: 25,104,576 (GRCm39) N13S probably damaging Het
Taf1a T A 1: 183,177,273 (GRCm39) D50E possibly damaging Het
Tlr1 T A 5: 65,083,024 (GRCm39) N518Y probably damaging Het
Tnik G A 3: 28,719,993 (GRCm39) probably null Het
Tomm70a T A 16: 56,942,514 (GRCm39) L97Q probably benign Het
Vmn2r97 T A 17: 19,168,173 (GRCm39) V809E probably damaging Het
Vps13d T C 4: 144,882,852 (GRCm39) I914V probably benign Het
Zfyve26 A T 12: 79,333,097 (GRCm39) H291Q probably damaging Het
Zmynd15 G T 11: 70,353,387 (GRCm39) C334F probably damaging Het
Other mutations in Sh3bgrl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Sh3bgrl2 APN 9 83,459,607 (GRCm39) missense probably benign 0.01
IGL00950:Sh3bgrl2 APN 9 83,459,543 (GRCm39) missense probably damaging 1.00
R0119:Sh3bgrl2 UTSW 9 83,459,612 (GRCm39) missense probably damaging 0.99
R0299:Sh3bgrl2 UTSW 9 83,459,612 (GRCm39) missense probably damaging 0.99
R0499:Sh3bgrl2 UTSW 9 83,459,612 (GRCm39) missense probably damaging 0.99
R1004:Sh3bgrl2 UTSW 9 83,459,684 (GRCm39) splice site probably benign
R1006:Sh3bgrl2 UTSW 9 83,459,684 (GRCm39) splice site probably benign
R1331:Sh3bgrl2 UTSW 9 83,459,684 (GRCm39) splice site probably benign
R1333:Sh3bgrl2 UTSW 9 83,459,684 (GRCm39) splice site probably benign
R1556:Sh3bgrl2 UTSW 9 83,476,751 (GRCm39) missense probably damaging 1.00
R5328:Sh3bgrl2 UTSW 9 83,459,509 (GRCm39) missense probably benign 0.36
R7327:Sh3bgrl2 UTSW 9 83,430,542 (GRCm39) missense possibly damaging 0.94
R7651:Sh3bgrl2 UTSW 9 83,430,525 (GRCm39) missense possibly damaging 0.52
R9715:Sh3bgrl2 UTSW 9 83,430,513 (GRCm39) start codon destroyed probably null 0.92
Predicted Primers PCR Primer
(F):5'- TAATTCCCGTGAAGCAGGCG -3'
(R):5'- TCTAAACTCAGCAAAGGGCC -3'

Sequencing Primer
(F):5'- TCTGGGCGCCAAGGAAACTAC -3'
(R):5'- TCAGCAAAGGGCCCCTGG -3'
Posted On 2016-06-06