Incidental Mutation 'R9665:Spon2'
ID 727749
Institutional Source Beutler Lab
Gene Symbol Spon2
Ensembl Gene ENSMUSG00000037379
Gene Name spondin 2, extracellular matrix protein
Synonyms 2310045I24Rik, Mindin, M-spondin
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R9665 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 33370862-33375596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33374702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 35 (T35A)
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: T35A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000042701
Gene: ENSMUSG00000037379
AA Change: T35A

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
AA Change: T35A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000144416
Gene: ENSMUSG00000037379
AA Change: T35A

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: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,796 (GRCm39) E79G probably damaging Het
4930583I09Rik T A 17: 65,141,288 (GRCm39) Q78L unknown Het
9330159F19Rik G T 10: 29,103,344 (GRCm39) V642F probably benign Het
Abca9 T A 11: 110,006,280 (GRCm39) Q1275L probably benign Het
Abca9 G T 11: 110,006,281 (GRCm39) Q1275K probably benign Het
Ager C T 17: 34,819,090 (GRCm39) P313S probably benign Het
Ap4m1 T A 5: 138,171,273 (GRCm39) N98K probably benign Het
Arhgef12 T G 9: 42,929,650 (GRCm39) K215T possibly damaging Het
Arhgef4 T C 1: 34,849,518 (GRCm39) Y370H probably benign Het
Bcat1 T G 6: 144,994,488 (GRCm39) H3P probably benign Het
Btnl6 T A 17: 34,732,635 (GRCm39) Q313L probably benign Het
Cad T C 5: 31,229,703 (GRCm39) S1458P probably benign Het
Cfap161 A G 7: 83,442,579 (GRCm39) V78A probably benign Het
Chd2 C A 7: 73,079,555 (GRCm39) A1782S probably benign Het
Cimip2b T A 4: 43,427,554 (GRCm39) R257* probably null Het
Col4a3 A T 1: 82,668,301 (GRCm39) T1042S unknown Het
Cramp1 A T 17: 25,196,545 (GRCm39) N856K probably damaging Het
Crispld2 G A 8: 120,760,316 (GRCm39) R414H probably benign Het
Ctsb T A 14: 63,370,917 (GRCm39) probably null Het
Cyp2c69 T C 19: 39,839,504 (GRCm39) D373G possibly damaging Het
Dnah3 A G 7: 119,644,981 (GRCm39) V1100A probably benign Het
Dnajb6 A T 5: 29,971,374 (GRCm39) L225F probably damaging Het
Dscc1 A T 15: 54,946,837 (GRCm39) I296K unknown Het
Epb41l2 A G 10: 25,317,798 (GRCm39) D105G probably benign Het
Evpl G A 11: 116,123,497 (GRCm39) R292C probably damaging Het
Flnc T C 6: 29,455,447 (GRCm39) I2032T probably damaging Het
Fryl T A 5: 73,222,299 (GRCm39) D2094V probably damaging Het
Gigyf2 A G 1: 87,331,457 (GRCm39) S202G unknown Het
Hdgfl1 A T 13: 26,953,812 (GRCm39) M87K probably benign Het
Htra3 T A 5: 35,836,654 (GRCm39) I13F unknown Het
Igf2r T C 17: 12,913,027 (GRCm39) N1774D probably benign Het
Ighj1 A T 12: 113,393,446 (GRCm39) Y3N Het
Incenp T C 19: 9,871,329 (GRCm39) H100R unknown Het
Klrb1c A G 6: 128,760,625 (GRCm39) probably null Het
Lmbrd1 T A 1: 24,732,065 (GRCm39) V94D probably damaging Het
Lmna A T 3: 88,389,793 (GRCm39) S611T probably benign Het
Lsp1 A C 7: 142,044,142 (GRCm39) I296L probably benign Het
Mdga1 A T 17: 30,051,991 (GRCm39) I892N probably damaging Het
Micu3 A G 8: 40,828,666 (GRCm39) E351G probably benign Het
Mrpl35 A G 6: 71,795,704 (GRCm39) V61A probably benign Het
Nhsl1 A G 10: 18,401,599 (GRCm39) K908E possibly damaging Het
Nlk A G 11: 78,481,753 (GRCm39) L236P Het
Nwd1 T A 8: 73,401,106 (GRCm39) H735Q probably damaging Het
Or1e1b-ps1 A T 11: 73,845,656 (GRCm39) I47F probably benign Het
Or5d47 A G 2: 87,804,596 (GRCm39) S138P possibly damaging Het
Or5w17 A T 2: 87,583,671 (GRCm39) I222N probably damaging Het
Or7h8 T A 9: 20,124,402 (GRCm39) Y252* probably null Het
Otof T A 5: 30,584,895 (GRCm39) S70C probably benign Het
Pcdh20 A T 14: 88,707,162 (GRCm39) V46D probably benign Het
Pjvk A G 2: 76,487,827 (GRCm39) T240A probably benign Het
Pou2f1 A G 1: 165,703,600 (GRCm39) S697P probably damaging Het
Prkn T A 17: 11,286,062 (GRCm39) D18E possibly damaging Het
Prmt9 G A 8: 78,307,267 (GRCm39) V739I probably benign Het
Prr14 A G 7: 127,073,091 (GRCm39) D146G probably benign Het
Rai14 T G 15: 10,574,803 (GRCm39) E747D probably damaging Het
Rapgef4 A T 2: 72,036,018 (GRCm39) T504S probably benign Het
Rilpl2 C A 5: 124,616,240 (GRCm39) probably benign Het
Ror2 A T 13: 53,439,561 (GRCm39) M1K probably null Het
Shisa9 A G 16: 12,085,446 (GRCm39) T352A probably benign Het
Slc35a4 A G 18: 36,813,651 (GRCm39) N33S probably benign Het
Slx4 G T 16: 3,806,890 (GRCm39) L518I probably benign Het
Speer1i A G 5: 11,092,852 (GRCm39) K132R Het
Syne3 A C 12: 104,924,247 (GRCm39) L471R probably benign Het
Tas2r115 A G 6: 132,714,390 (GRCm39) L187S probably benign Het
Tbc1d30 G T 10: 121,102,886 (GRCm39) S715R possibly damaging Het
Tdrd1 A G 19: 56,819,572 (GRCm39) E24G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tjp1 A G 7: 64,962,644 (GRCm39) S1178P probably benign Het
Upf2 A G 2: 6,051,715 (GRCm39) S1126G unknown Het
Vmn1r128 G T 7: 21,083,362 (GRCm39) C22F probably damaging Het
Vmn2r95 G T 17: 18,660,607 (GRCm39) V340F probably damaging Het
Vps13c A T 9: 67,863,025 (GRCm39) K3014* probably null Het
Wdr75 T C 1: 45,843,013 (GRCm39) V126A unknown Het
Yeats4 A T 10: 117,053,343 (GRCm39) Y139* probably null Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zfp143 C G 7: 109,692,414 (GRCm39) I608M probably damaging Het
Zfp772 A T 7: 7,212,793 (GRCm39) M1K probably null Het
Zfp827 A G 8: 79,906,756 (GRCm39) M923V possibly 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
R8847:Spon2 UTSW 5 33,371,841 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- ACTGTGTGCTGTGAAGCCAG -3'
(R):5'- TTGCAGGCATCTCACTCTG -3'

Sequencing Primer
(F):5'- TGCTGTGAAGCCAGCAGGTAC -3'
(R):5'- ATCTCACTCTGGGAGCTCG -3'
Posted On 2022-10-06