Incidental Mutation 'R8862:Spink2'
ID 675704
Institutional Source Beutler Lab
Gene Symbol Spink2
Ensembl Gene ENSMUSG00000053030
Gene Name serine peptidase inhibitor, Kazal type 2
Synonyms acrosin-trypsin inhibitor, HUSI-II, 1700007F22Rik
MMRRC Submission 068741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8862 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 77352954-77359318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77357615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 24 (D24N)
Ref Sequence ENSEMBL: ENSMUSP00000067117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065216] [ENSMUST00000120429] [ENSMUST00000121825]
AlphaFold Q8BMY7
Predicted Effect probably benign
Transcript: ENSMUST00000065216
AA Change: D24N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067117
Gene: ENSMUSG00000053030
AA Change: D24N

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
KAZAL 37 86 1.95e-16 SMART
Predicted Effect unknown
Transcript: ENSMUST00000120429
AA Change: D24N
SMART Domains Protein: ENSMUSP00000112806
Gene: ENSMUSG00000053030
AA Change: D24N

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121825
SMART Domains Protein: ENSMUSP00000113823
Gene: ENSMUSG00000053030

DomainStartEndE-ValueType
KAZAL 10 59 1.95e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced male fertility associated with oligozoospermia, teratozoospermia, male germ cell apoptosis, and small testis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,901,172 (GRCm39) G685R probably benign Het
Ahdc1 T C 4: 132,791,129 (GRCm39) F790S possibly damaging Het
Alg10b T C 15: 90,109,893 (GRCm39) Y69H probably damaging Het
Amer3 A T 1: 34,626,465 (GRCm39) S235C probably damaging Het
Ankfy1 G T 11: 72,644,469 (GRCm39) S722I probably benign Het
Baz1a T C 12: 55,032,624 (GRCm39) probably benign Het
Ccdc177 A G 12: 80,804,208 (GRCm39) S689P unknown Het
Cdh24 C A 14: 54,869,874 (GRCm39) R681L probably damaging Het
Cdk14 T G 5: 5,060,862 (GRCm39) I338L probably benign Het
Clec2m T C 6: 129,308,494 (GRCm39) T12A probably benign Het
Col18a1 G T 10: 76,949,044 (GRCm39) S156* probably null Het
Col6a6 T C 9: 105,663,348 (GRCm39) Y63C probably damaging Het
Cytip G A 2: 58,037,887 (GRCm39) T159M probably benign Het
Dnah5 T C 15: 28,459,502 (GRCm39) probably benign Het
Dock3 T C 9: 106,855,927 (GRCm39) Y744C probably damaging Het
Dop1a T C 9: 86,406,404 (GRCm39) probably null Het
Dse A T 10: 34,029,934 (GRCm39) D385E probably damaging Het
Efhc1 A C 1: 21,037,573 (GRCm39) D250A Het
Epha3 T A 16: 63,431,348 (GRCm39) T519S probably benign Het
Gas2l3 A G 10: 89,250,282 (GRCm39) Y279H probably damaging Het
Gatd3a A G 10: 78,005,461 (GRCm39) S35P probably damaging Het
Gemin6 G A 17: 80,535,432 (GRCm39) V131I probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gnai2 C A 9: 107,512,326 (GRCm39) A31S Het
Greb1l A G 18: 10,555,042 (GRCm39) D1696G possibly damaging Het
Itfg2 T C 6: 128,394,668 (GRCm39) E35G probably damaging Het
Kctd10 A G 5: 114,503,921 (GRCm39) F244L probably damaging Het
Kif19b C A 5: 140,472,534 (GRCm39) P686Q probably damaging Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Lgals9 G T 11: 78,860,716 (GRCm39) probably benign Het
Lrriq4 A T 3: 30,705,088 (GRCm39) N372I probably damaging Het
Mical2 A G 7: 111,910,574 (GRCm39) N248S probably damaging Het
Mipep T A 14: 61,080,689 (GRCm39) C560* probably null Het
Myo1a G A 10: 127,548,653 (GRCm39) V396M probably benign Het
Myod1 A G 7: 46,026,487 (GRCm39) T131A probably damaging Het
Nalcn T A 14: 123,647,199 (GRCm39) D558V possibly damaging Het
Odf2l T A 3: 144,833,758 (GRCm39) probably benign Het
Or6d13 G A 6: 116,518,186 (GRCm39) M257I probably benign Het
Plbd2 A T 5: 120,624,728 (GRCm39) M480K probably damaging Het
Ppargc1a A G 5: 51,631,235 (GRCm39) F465L possibly damaging Het
Ppp1r15b A T 1: 133,064,506 (GRCm39) I659F probably damaging Het
Prune2 C T 19: 17,097,510 (GRCm39) L1005F probably benign Het
Pter T C 2: 12,985,341 (GRCm39) S224P probably damaging Het
Ralgapa2 A G 2: 146,266,731 (GRCm39) I615T probably benign Het
Ror1 T C 4: 100,191,715 (GRCm39) probably null Het
Rps2 A G 17: 24,940,662 (GRCm39) T259A probably benign Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
S1pr4 G A 10: 81,334,533 (GRCm39) R314C probably damaging Het
Sema4f A T 6: 82,891,081 (GRCm39) H575Q probably benign Het
Son A G 16: 91,453,734 (GRCm39) D827G probably damaging Het
Sox8 A T 17: 25,787,045 (GRCm39) H219Q possibly damaging Het
Stard9 A G 2: 120,534,099 (GRCm39) D3452G probably benign Het
Syngr2 G T 11: 117,703,507 (GRCm39) D108Y probably damaging Het
Tardbp G A 4: 148,702,755 (GRCm39) S403L possibly damaging Het
Tomm70a T C 16: 56,942,546 (GRCm39) S108P probably benign Het
Ttc12 T C 9: 49,351,515 (GRCm39) T661A probably benign Het
Tubgcp6 A G 15: 89,006,824 (GRCm39) V66A probably benign Het
Unc13b T A 4: 43,235,207 (GRCm39) L477Q probably damaging Het
Vmn1r77 T A 7: 11,776,060 (GRCm39) C279S probably benign Het
Vmn2r79 T C 7: 86,645,712 (GRCm39) S14P probably benign Het
Zan T C 5: 137,472,674 (GRCm39) T72A probably benign Het
Zcchc2 A G 1: 105,958,998 (GRCm39) *1156W probably null Het
Zfp354c A T 11: 50,708,718 (GRCm39) D26E probably benign Het
Other mutations in Spink2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Spink2 APN 5 77,359,174 (GRCm39) unclassified probably benign
R1542:Spink2 UTSW 5 77,354,812 (GRCm39) missense probably damaging 1.00
R1664:Spink2 UTSW 5 77,354,855 (GRCm39) missense probably damaging 1.00
R4833:Spink2 UTSW 5 77,353,239 (GRCm39) missense possibly damaging 0.69
R5392:Spink2 UTSW 5 77,354,872 (GRCm39) missense probably benign 0.16
R8266:Spink2 UTSW 5 77,359,213 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTATATACTCACTTCCCTGGATCAG -3'
(R):5'- GTCTTAAGTGTGTGCGCAC -3'

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