Incidental Mutation 'R8847:Spon2'
ID 674748
Institutional Source Beutler Lab
Gene Symbol Spon2
Ensembl Gene ENSMUSG00000037379
Gene Name spondin 2, extracellular matrix protein
Synonyms 2310045I24Rik, Mindin, M-spondin
MMRRC Submission 068735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R8847 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 33370862-33375596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33371841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 322 (A322T)
Ref Sequence ENSEMBL: ENSMUSP00000042701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046186] [ENSMUST00000201475]
AlphaFold Q8BMS2
Predicted Effect probably benign
Transcript: ENSMUST00000046186
AA Change: A322T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042701
Gene: ENSMUSG00000037379
AA Change: A322T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Spond_N 40 234 2.3e-79 PFAM
TSP1 279 330 4.48e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201475
SMART Domains Protein: ENSMUSP00000144416
Gene: ENSMUSG00000037379

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Spond_N 40 179 2.4e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. There is some alteration in succeptibility to bacterial infection however. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,206,746 (GRCm39) R4T probably benign Het
Alk T A 17: 72,256,820 (GRCm39) I680F probably benign Het
Best3 A G 10: 116,824,572 (GRCm39) T13A possibly damaging Het
Ccdc7b A G 8: 129,872,082 (GRCm39) D59G Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cic G A 7: 24,970,631 (GRCm39) V121M probably damaging Het
Clasp1 C G 1: 118,506,705 (GRCm39) P1280R probably damaging Het
Col6a5 A T 9: 105,741,472 (GRCm39) N2482K possibly damaging Het
Crebbp A G 16: 3,902,891 (GRCm39) M2116T probably benign Het
Ddn T C 15: 98,704,794 (GRCm39) E166G possibly damaging Het
Dennd6a C T 14: 26,327,086 (GRCm39) T249I probably benign Het
Diaph1 A T 18: 37,987,590 (GRCm39) D1055E possibly damaging Het
Dnajc13 C A 9: 104,057,360 (GRCm39) G1547* probably null Het
Dvl1 C T 4: 155,942,611 (GRCm39) R626C possibly damaging Het
Fer1l6 A C 15: 58,414,012 (GRCm39) K13Q possibly damaging Het
Fry G A 5: 150,309,472 (GRCm39) E639K Het
Gm6408 G T 5: 146,420,602 (GRCm39) V161L probably benign Het
Gpatch8 A T 11: 102,372,010 (GRCm39) N509K unknown Het
Hycc2 G T 1: 58,595,713 (GRCm39) P55Q probably damaging Het
Ints13 T C 6: 146,457,631 (GRCm39) T416A probably benign Het
Iqcf6 A T 9: 106,504,650 (GRCm39) M105L probably damaging Het
Magi3 C A 3: 103,922,334 (GRCm39) R1461L probably benign Het
Map3k8 A T 18: 4,333,889 (GRCm39) L401Q Het
Miga2 G T 2: 30,273,990 (GRCm39) R542L probably damaging Het
Mphosph9 A T 5: 124,454,209 (GRCm39) V96E possibly damaging Het
Nek5 T C 8: 22,613,595 (GRCm39) S28G probably benign Het
Niban1 A G 1: 151,575,929 (GRCm39) E351G probably damaging Het
Notch4 A G 17: 34,803,962 (GRCm39) probably benign Het
Npc1 A G 18: 12,323,987 (GRCm39) L1275P probably damaging Het
Nphp4 C T 4: 152,590,863 (GRCm39) R287C probably damaging Het
Or10ak11 T C 4: 118,686,821 (GRCm39) D271G probably damaging Het
Or13a20 G C 7: 140,232,326 (GRCm39) A145P possibly damaging Het
Or1j13 G A 2: 36,369,483 (GRCm39) R220* probably null Het
Or1p1c C T 11: 74,160,443 (GRCm39) T76I probably damaging Het
Parn A T 16: 13,446,270 (GRCm39) L343* probably null Het
Pax5 T A 4: 44,691,865 (GRCm39) D127V probably benign Het
Peak1 C A 9: 56,114,427 (GRCm39) D1505Y probably damaging Het
Perm1 C T 4: 156,302,068 (GRCm39) T204I probably benign Het
Pid1 A T 1: 84,093,694 (GRCm39) S65T unknown Het
Pkn2 A G 3: 142,526,401 (GRCm39) V392A probably benign Het
Plekhh2 A G 17: 84,878,479 (GRCm39) D578G probably benign Het
Ppp4r4 T A 12: 103,562,747 (GRCm39) L572Q probably damaging Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rasa2 A G 9: 96,458,402 (GRCm39) V266A possibly damaging Het
Sirpb1c C T 3: 15,886,584 (GRCm39) W264* probably null Het
Slc35g3 A T 11: 69,651,399 (GRCm39) Y195* probably null Het
Slk T A 19: 47,607,632 (GRCm39) H289Q Het
Spef2 T C 15: 9,668,913 (GRCm39) S758G probably benign Het
Spred2 T C 11: 19,951,064 (GRCm39) L87P probably benign Het
Stk10 A G 11: 32,539,427 (GRCm39) D269G Het
Tex48 T A 4: 63,530,772 (GRCm39) probably benign Het
Themis2 T A 4: 132,513,509 (GRCm39) H239L probably damaging Het
Tle4 T A 19: 14,493,737 (GRCm39) R199* probably null Het
Tlr11 C T 14: 50,600,182 (GRCm39) H723Y possibly damaging Het
Trdj2 T A 14: 54,374,237 (GRCm39) S1T Het
Vdac1 T G 11: 52,267,230 (GRCm39) S44A Het
Vill C T 9: 118,897,514 (GRCm39) T647I probably damaging Het
Vmn1r61 A G 7: 5,613,817 (GRCm39) C166R probably damaging Het
Vmn2r114 T A 17: 23,528,986 (GRCm39) N372I probably damaging Het
Vmn2r120 T A 17: 57,816,217 (GRCm39) M713L probably benign Het
Vmn2r61 T C 7: 41,950,010 (GRCm39) V810A probably damaging Het
Vmn2r65 A T 7: 84,590,212 (GRCm39) L568Q probably damaging Het
Wdr7 T C 18: 63,872,293 (GRCm39) V409A probably damaging Het
Ylpm1 C A 12: 85,061,672 (GRCm39) N524K unknown Het
Zfp958 A C 8: 4,678,434 (GRCm39) H153P probably damaging Het
Other mutations in Spon2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01557:Spon2 APN 5 33,374,047 (GRCm39) missense probably damaging 1.00
IGL01781:Spon2 APN 5 33,372,904 (GRCm39) missense probably benign 0.09
IGL02533:Spon2 APN 5 33,371,942 (GRCm39) missense probably damaging 1.00
R1557:Spon2 UTSW 5 33,374,108 (GRCm39) missense probably damaging 1.00
R1711:Spon2 UTSW 5 33,373,729 (GRCm39) missense probably damaging 1.00
R4728:Spon2 UTSW 5 33,374,682 (GRCm39) missense probably benign 0.01
R4793:Spon2 UTSW 5 33,371,904 (GRCm39) missense probably damaging 0.99
R4961:Spon2 UTSW 5 33,371,896 (GRCm39) nonsense probably null
R6930:Spon2 UTSW 5 33,373,771 (GRCm39) missense probably benign
R7067:Spon2 UTSW 5 33,371,958 (GRCm39) missense probably damaging 1.00
R7643:Spon2 UTSW 5 33,374,800 (GRCm39) missense probably benign 0.00
R7727:Spon2 UTSW 5 33,373,019 (GRCm39) missense probably damaging 1.00
R8398:Spon2 UTSW 5 33,374,154 (GRCm39) missense probably damaging 1.00
R9076:Spon2 UTSW 5 33,374,054 (GRCm39) nonsense probably null
R9124:Spon2 UTSW 5 33,372,935 (GRCm39) missense possibly damaging 0.67
R9295:Spon2 UTSW 5 33,373,844 (GRCm39) missense probably damaging 1.00
R9665:Spon2 UTSW 5 33,374,702 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGGGTGAAGACCTCTGTCAG -3'
(R):5'- TTTCCAAGGGTCTTACACACC -3'

Sequencing Primer
(F):5'- TGAAGACCTCTGTCAGCCCAG -3'
(R):5'- GGGTCTTACACACCACTCAC -3'
Posted On 2021-07-15