Incidental Mutation 'R0964:Sbno2'
ID 81495
Institutional Source Beutler Lab
Gene Symbol Sbno2
Ensembl Gene ENSMUSG00000035673
Gene Name strawberry notch 2
Synonyms Stno
MMRRC Submission 039093-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0964 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79892826-79941405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79920093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 46 (T46N)
Ref Sequence ENSEMBL: ENSMUSP00000151835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000218630] [ENSMUST00000219258] [ENSMUST00000219260]
AlphaFold Q7TNB8
Predicted Effect probably benign
Transcript: ENSMUST00000042771
AA Change: T46N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: T46N

DomainStartEndE-ValueType
low complexity region 96 112 N/A INTRINSIC
low complexity region 177 189 N/A INTRINSIC
Pfam:AAA_34 209 500 8.2e-135 PFAM
Pfam:ResIII 239 419 7.7e-8 PFAM
low complexity region 611 631 N/A INTRINSIC
Pfam:Helicase_C_4 726 1004 7.5e-120 PFAM
low complexity region 1263 1283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218462
Predicted Effect probably benign
Transcript: ENSMUST00000218630
AA Change: T46N

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219258
AA Change: T46N

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000219260
AA Change: T46N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 98% (55/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired osteoclast fusion, impaired osteoblastogenesis, osteopetrosis, increased bone mass, and decreased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acacb A T 5: 114,367,813 (GRCm39) M1604L possibly damaging Het
Acp3 A G 9: 104,204,174 (GRCm39) V40A possibly damaging Het
Adgrl1 T C 8: 84,661,041 (GRCm39) probably benign Het
Alppl2 C T 1: 87,015,446 (GRCm39) V372I possibly damaging Het
Apol8 C T 15: 77,633,811 (GRCm39) S255N probably benign Het
Atp8b4 A T 2: 126,179,413 (GRCm39) F973I probably damaging Het
Bbs4 A G 9: 59,230,259 (GRCm39) *150Q probably null Het
Bltp3a A T 17: 28,106,152 (GRCm39) T893S probably damaging Het
Cacna1h A T 17: 25,597,749 (GRCm39) probably benign Het
Ccn1 C A 3: 145,353,503 (GRCm39) C353F probably damaging Het
Ccser2 C T 14: 36,630,965 (GRCm39) probably benign Het
Chd9 A G 8: 91,741,832 (GRCm39) E1607G probably benign Het
Clca4b A G 3: 144,621,337 (GRCm39) I579T probably benign Het
Col20a1 T A 2: 180,626,278 (GRCm39) probably benign Het
Creg2 T C 1: 39,664,144 (GRCm39) I205V probably benign Het
Ddx24 C T 12: 103,390,166 (GRCm39) R275H probably damaging Het
Dip2c G A 13: 9,618,699 (GRCm39) A579T probably benign Het
Dnah3 T C 7: 119,551,962 (GRCm39) probably benign Het
Dnah8 G A 17: 30,892,894 (GRCm39) probably null Het
Gckr T C 5: 31,484,259 (GRCm39) probably benign Het
Gpbp1l1 A G 4: 116,438,436 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,281,523 (GRCm39) T1913A probably benign Het
Lmo7 T C 14: 102,158,003 (GRCm39) probably benign Het
Meioc G A 11: 102,570,857 (GRCm39) V863I probably damaging Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Myh1 A G 11: 67,096,751 (GRCm39) I341V probably benign Het
Myh13 A G 11: 67,235,828 (GRCm39) T664A probably benign Het
Myo3b A C 2: 70,257,193 (GRCm39) D1269A probably damaging Het
Nckap1 A G 2: 80,378,243 (GRCm39) probably null Het
Nr3c2 A G 8: 77,635,297 (GRCm39) probably null Het
Nxpe5 T C 5: 138,238,186 (GRCm39) S249P probably damaging Het
Or52z1 C T 7: 103,436,604 (GRCm39) M293I probably benign Het
Or8k16 A G 2: 85,520,709 (GRCm39) N312S probably benign Het
Or9a4 T C 6: 40,549,139 (GRCm39) V273A probably benign Het
Pitpnm3 G A 11: 71,949,296 (GRCm39) T675I probably damaging Het
Plekhm1 C A 11: 103,285,908 (GRCm39) E176* probably null Het
Prdm11 C A 2: 92,819,567 (GRCm39) probably benign Het
Prodh2 C A 7: 30,205,706 (GRCm39) R218S probably damaging Het
Rps15a T C 7: 117,714,060 (GRCm39) D54G probably benign Het
Sdk2 A G 11: 113,697,243 (GRCm39) probably benign Het
Sema3c T C 5: 17,926,907 (GRCm39) F567L probably damaging Het
Slc36a1 A G 11: 55,116,780 (GRCm39) probably benign Het
Spaca6 A T 17: 18,058,653 (GRCm39) E284V possibly damaging Het
Srsf3 C A 17: 29,255,412 (GRCm39) L66I probably damaging Het
Srsf3 T A 17: 29,255,413 (GRCm39) L66Q probably damaging Het
Syne1 T C 10: 4,993,652 (GRCm39) T8363A possibly damaging Het
Trmt1 T A 8: 85,423,481 (GRCm39) L298Q probably damaging Het
Uba6 T C 5: 86,267,260 (GRCm39) I923V possibly damaging Het
Vmn2r106 G A 17: 20,487,859 (GRCm39) H847Y probably benign Het
Vmn2r15 T C 5: 109,445,401 (GRCm39) T8A probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb41 T G 1: 139,366,769 (GRCm39) F583V probably damaging Het
Zfp938 T A 10: 82,061,253 (GRCm39) I456F probably benign Het
Other mutations in Sbno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Sbno2 APN 10 79,900,340 (GRCm39) splice site probably benign
IGL01773:Sbno2 APN 10 79,893,665 (GRCm39) missense probably damaging 1.00
IGL01869:Sbno2 APN 10 79,896,226 (GRCm39) critical splice donor site probably null
IGL01911:Sbno2 APN 10 79,905,458 (GRCm39) nonsense probably null
IGL02071:Sbno2 APN 10 79,896,475 (GRCm39) missense probably damaging 1.00
IGL02094:Sbno2 APN 10 79,893,479 (GRCm39) missense probably benign
IGL02220:Sbno2 APN 10 79,908,202 (GRCm39) missense probably benign 0.04
IGL02366:Sbno2 APN 10 79,900,036 (GRCm39) missense probably damaging 1.00
IGL02608:Sbno2 APN 10 79,903,236 (GRCm39) splice site probably null
IGL03007:Sbno2 APN 10 79,894,384 (GRCm39) splice site probably benign
IGL03083:Sbno2 APN 10 79,893,368 (GRCm39) missense probably damaging 0.98
IGL03393:Sbno2 APN 10 79,902,735 (GRCm39) missense probably damaging 1.00
Narcissus UTSW 10 79,898,042 (GRCm39) missense probably damaging 1.00
psychopomp UTSW 10 79,895,850 (GRCm39) missense probably damaging 0.99
Unsafe UTSW 10 79,896,049 (GRCm39) missense probably damaging 1.00
R0034:Sbno2 UTSW 10 79,894,174 (GRCm39) splice site probably benign
R0126:Sbno2 UTSW 10 79,904,687 (GRCm39) splice site probably null
R0652:Sbno2 UTSW 10 79,903,128 (GRCm39) missense probably damaging 1.00
R1571:Sbno2 UTSW 10 79,896,226 (GRCm39) critical splice donor site probably null
R1601:Sbno2 UTSW 10 79,896,326 (GRCm39) missense probably damaging 0.98
R1634:Sbno2 UTSW 10 79,896,468 (GRCm39) missense possibly damaging 0.73
R1733:Sbno2 UTSW 10 79,894,342 (GRCm39) missense possibly damaging 0.92
R1762:Sbno2 UTSW 10 79,902,440 (GRCm39) missense probably damaging 1.00
R1832:Sbno2 UTSW 10 79,896,439 (GRCm39) nonsense probably null
R1859:Sbno2 UTSW 10 79,894,473 (GRCm39) nonsense probably null
R2086:Sbno2 UTSW 10 79,893,690 (GRCm39) missense possibly damaging 0.89
R2136:Sbno2 UTSW 10 79,898,527 (GRCm39) missense probably damaging 1.00
R2360:Sbno2 UTSW 10 79,893,855 (GRCm39) missense possibly damaging 0.81
R4426:Sbno2 UTSW 10 79,908,192 (GRCm39) missense probably null 0.02
R4504:Sbno2 UTSW 10 79,896,326 (GRCm39) missense possibly damaging 0.46
R4692:Sbno2 UTSW 10 79,922,161 (GRCm39) missense possibly damaging 0.90
R5044:Sbno2 UTSW 10 79,898,022 (GRCm39) missense probably benign 0.11
R5166:Sbno2 UTSW 10 79,902,762 (GRCm39) nonsense probably null
R5576:Sbno2 UTSW 10 79,903,171 (GRCm39) missense probably damaging 0.99
R5665:Sbno2 UTSW 10 79,894,287 (GRCm39) missense probably benign 0.00
R5709:Sbno2 UTSW 10 79,922,171 (GRCm39) start codon destroyed probably null 0.89
R5828:Sbno2 UTSW 10 79,902,424 (GRCm39) missense possibly damaging 0.84
R6192:Sbno2 UTSW 10 79,895,850 (GRCm39) missense probably damaging 0.99
R6971:Sbno2 UTSW 10 79,895,868 (GRCm39) missense possibly damaging 0.95
R7012:Sbno2 UTSW 10 79,905,352 (GRCm39) intron probably benign
R7082:Sbno2 UTSW 10 79,895,924 (GRCm39) splice site probably null
R7133:Sbno2 UTSW 10 79,922,146 (GRCm39) missense probably damaging 1.00
R7438:Sbno2 UTSW 10 79,905,409 (GRCm39) missense unknown
R7481:Sbno2 UTSW 10 79,893,333 (GRCm39) missense probably benign 0.11
R7746:Sbno2 UTSW 10 79,894,708 (GRCm39) missense probably damaging 0.99
R7964:Sbno2 UTSW 10 79,904,185 (GRCm39) missense probably damaging 1.00
R8055:Sbno2 UTSW 10 79,905,265 (GRCm39) missense possibly damaging 0.81
R8221:Sbno2 UTSW 10 79,905,845 (GRCm39) missense probably benign
R8329:Sbno2 UTSW 10 79,900,221 (GRCm39) missense probably damaging 1.00
R8725:Sbno2 UTSW 10 79,911,090 (GRCm39) missense probably benign 0.09
R8727:Sbno2 UTSW 10 79,911,090 (GRCm39) missense probably benign 0.09
R8840:Sbno2 UTSW 10 79,893,360 (GRCm39) missense probably damaging 0.97
R8932:Sbno2 UTSW 10 79,898,042 (GRCm39) missense probably damaging 1.00
R8954:Sbno2 UTSW 10 79,893,796 (GRCm39) missense probably damaging 1.00
R9003:Sbno2 UTSW 10 79,896,049 (GRCm39) missense probably damaging 1.00
R9034:Sbno2 UTSW 10 79,898,591 (GRCm39) missense probably damaging 1.00
X0026:Sbno2 UTSW 10 79,893,293 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TCTCCCCAGGCAAACTCCTTCTAAG -3'
(R):5'- GAACCTCAGCTTTTCCAGGGTACAC -3'

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