Incidental Mutation 'R4955:Stac2'
ID381539
Institutional Source Beutler Lab
Gene Symbol Stac2
Ensembl Gene ENSMUSG00000017400
Gene NameSH3 and cysteine rich domain 2
Synonyms24b2, 24b2/STAC2
MMRRC Submission 042552-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #R4955 (G1)
Quality Score222
Status Validated
Chromosome11
Chromosomal Location98036623-98053462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 98043548 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 110 (L110R)
Ref Sequence ENSEMBL: ENSMUSP00000017544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017544]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017544
AA Change: L110R

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: L110R

DomainStartEndE-ValueType
low complexity region 63 81 N/A INTRINSIC
low complexity region 89 101 N/A INTRINSIC
C1 111 161 1.73e-5 SMART
low complexity region 219 236 N/A INTRINSIC
low complexity region 261 276 N/A INTRINSIC
SH3 292 347 1.92e-18 SMART
Blast:SH3 352 407 1e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131519
SMART Domains Protein: ENSMUSP00000118164
Gene: ENSMUSG00000017400

DomainStartEndE-ValueType
Pfam:STAC2_u1 6 115 1.8e-32 PFAM
low complexity region 146 157 N/A INTRINSIC
Meta Mutation Damage Score 0.0884 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,169,110 probably benign Het
3110009E18Rik G T 1: 120,169,119 probably benign Het
3110009E18Rik C T 1: 120,169,120 probably benign Het
4933407L21Rik T A 1: 85,931,287 probably benign Het
Abca8a T G 11: 110,036,512 E1338D probably benign Het
Arl2bp G A 8: 94,670,428 probably null Het
Arsj T C 3: 126,438,540 Y312H probably benign Het
Atp8b2 G T 3: 89,952,920 probably benign Het
Cdh20 T C 1: 104,984,803 V594A probably damaging Het
Cfap44 T A 16: 44,475,277 V1646E possibly damaging Het
Csmd3 A T 15: 48,673,518 I96K probably damaging Het
Dusp27 T C 1: 166,108,092 Y179C probably damaging Het
Fbn2 T C 18: 58,058,383 Q1556R possibly damaging Het
Fstl5 T A 3: 76,223,876 probably null Het
Hist1h4i T A 13: 22,041,185 I47F probably damaging Het
Hivep2 T A 10: 14,130,958 M1100K probably benign Het
Ing4 C T 6: 125,048,201 A225V probably damaging Het
Kcnc3 CTT CT 7: 44,591,296 probably null Het
Khdrbs2 T A 1: 32,520,077 probably benign Het
Kif21a A T 15: 90,937,190 W1566R probably damaging Het
Lrfn5 A C 12: 61,839,978 D184A probably benign Het
Mettl2 C T 11: 105,137,779 T319I possibly damaging Het
Mgrn1 T C 16: 4,934,219 V529A probably benign Het
Naca T A 10: 128,042,215 probably benign Het
Ninj2 A G 6: 120,197,946 N26S probably damaging Het
Nqo1 A G 8: 107,388,857 S263P probably benign Het
Obscn T C 11: 59,069,172 T3566A probably benign Het
Olfr1287 A T 2: 111,449,605 H155L probably damaging Het
Olfr224 A G 11: 58,566,518 Y276H probably damaging Het
Olfr243 A T 7: 103,716,705 Y37F probably benign Het
Olfr761 T C 17: 37,952,898 N42S probably damaging Het
Opn5 A T 17: 42,611,238 F24L probably damaging Het
Palmd A G 3: 116,924,224 V208A probably damaging Het
Plekhd1 T A 12: 80,722,021 I426N possibly damaging Het
Polq T G 16: 37,061,082 Y1203D probably benign Het
Prex1 A G 2: 166,573,223 F251S probably damaging Het
Prkd3 T C 17: 78,952,727 M816V probably null Het
Rab3gap2 C T 1: 185,267,155 probably benign Het
Rcan2 C A 17: 44,037,081 P13Q probably damaging Het
Slc35b3 A G 13: 38,932,890 V329A probably benign Het
Slc5a1 T C 5: 33,160,902 M633T probably benign Het
Tecpr1 T C 5: 144,217,257 E126G probably damaging Het
Ttll6 A G 11: 96,138,789 D176G possibly damaging Het
Utrn C T 10: 12,861,567 probably null Het
Zfp341 T C 2: 154,638,030 V467A probably damaging Het
Other mutations in Stac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Stac2 APN 11 98041179 missense probably benign 0.00
IGL01148:Stac2 APN 11 98043561 nonsense probably null
IGL01320:Stac2 APN 11 98040095 unclassified probably null
IGL01614:Stac2 APN 11 98052948 missense probably benign 0.10
IGL01637:Stac2 APN 11 98041354 missense probably benign 0.00
IGL02797:Stac2 APN 11 98043519 missense possibly damaging 0.92
IGL03025:Stac2 APN 11 98043722 missense probably damaging 0.97
IGL03386:Stac2 APN 11 98041140 missense possibly damaging 0.52
R0699:Stac2 UTSW 11 98042785 missense possibly damaging 0.92
R1664:Stac2 UTSW 11 98042594 missense probably damaging 1.00
R1799:Stac2 UTSW 11 98039618 critical splice donor site probably null
R1868:Stac2 UTSW 11 98052945 missense probably benign 0.00
R4731:Stac2 UTSW 11 98039695 missense probably damaging 1.00
R4748:Stac2 UTSW 11 98041372 missense possibly damaging 0.59
R4943:Stac2 UTSW 11 98041572 missense probably benign 0.04
R5171:Stac2 UTSW 11 98043498 missense possibly damaging 0.75
R7345:Stac2 UTSW 11 98042613 missense probably damaging 1.00
R7527:Stac2 UTSW 11 98039626 missense probably damaging 1.00
Z1176:Stac2 UTSW 11 98043567 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCACCCAACACTCATTGGTC -3'
(R):5'- AGCGTAGAGAACTTCTTCCTCC -3'

Sequencing Primer
(F):5'- AACACTCATTGGTCTCCCCAGG -3'
(R):5'- GTAGAGAACTTCTTCCTCCGCTCG -3'
Posted On2016-04-27