Incidental Mutation 'R6501:Spint2'
ID 519726
Institutional Source Beutler Lab
Gene Symbol Spint2
Ensembl Gene ENSMUSG00000074227
Gene Name serine protease inhibitor, Kunitz type 2
Synonyms HAI-2
MMRRC Submission 044633-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6501 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28955748-28981337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28963131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 56 (Y56H)
Ref Sequence ENSEMBL: ENSMUSP00000096204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098604] [ENSMUST00000108236] [ENSMUST00000207601]
AlphaFold Q9WU03
Predicted Effect probably damaging
Transcript: ENSMUST00000098604
AA Change: Y56H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096204
Gene: ENSMUSG00000074227
AA Change: Y56H

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
KU 36 89 3.02e-23 SMART
KU 131 184 2.34e-20 SMART
transmembrane domain 198 220 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108236
SMART Domains Protein: ENSMUSP00000103871
Gene: ENSMUSG00000074227

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
KU 74 127 2.34e-20 SMART
transmembrane domain 141 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208585
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous embryos carrying an insertional mutation fail to progress to the headfold stage and die at gastrulation displaying a severe clefting of the embryonic ectoderm at E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,914,165 (GRCm39) C154* probably null Het
Ada A G 2: 163,570,108 (GRCm39) probably null Het
Birc6 G A 17: 74,886,276 (GRCm39) V535I probably damaging Het
Bptf T C 11: 106,968,509 (GRCm39) N1058S probably null Het
Cdadc1 C T 14: 59,823,898 (GRCm39) C198Y probably benign Het
Chrna7 G A 7: 62,755,863 (GRCm39) R228C probably damaging Het
Cts6 T C 13: 61,344,149 (GRCm39) N301S probably damaging Het
Cts8 T A 13: 61,398,756 (GRCm39) D250V probably damaging Het
Cyp26a1 G T 19: 37,687,518 (GRCm39) R235L possibly damaging Het
Disc1 A T 8: 125,944,844 (GRCm39) M598L probably benign Het
Ear6 T A 14: 52,091,681 (GRCm39) V76D possibly damaging Het
Grifin A G 5: 140,549,036 (GRCm39) *145R probably null Het
Htr2b T G 1: 86,038,363 (GRCm39) E11A probably damaging Het
Krtap4-9 T A 11: 99,676,255 (GRCm39) probably benign Het
Larp4b A C 13: 9,218,829 (GRCm39) H522P probably damaging Het
Macf1 A T 4: 123,363,425 (GRCm39) probably null Het
Mdfic T C 6: 15,770,516 (GRCm39) L174P possibly damaging Het
Mmp17 A G 5: 129,683,469 (GRCm39) E535G probably benign Het
Nfxl1 A T 5: 72,685,852 (GRCm39) probably null Het
Nynrin A T 14: 56,100,989 (GRCm39) T260S probably benign Het
Or4k44 C T 2: 111,368,124 (GRCm39) G170D probably damaging Het
Or7e168 A T 9: 19,720,271 (GRCm39) Y219F possibly damaging Het
Or8b1c A T 9: 38,384,585 (GRCm39) I181F possibly damaging Het
Pbx1 G T 1: 168,037,103 (GRCm39) D109E probably damaging Het
Pde4d A T 13: 109,253,476 (GRCm39) H101L probably benign Het
Pdlim3 T C 8: 46,361,639 (GRCm39) I155T possibly damaging Het
Plekha5 T A 6: 140,471,655 (GRCm39) Y26* probably null Het
Prpf6 T A 2: 181,263,713 (GRCm39) L191* probably null Het
Rabl6 A G 2: 25,492,459 (GRCm39) V80A possibly damaging Het
Rp1 T C 1: 4,381,503 (GRCm39) probably benign Het
Sec14l1 A G 11: 117,047,676 (GRCm39) S698G probably damaging Het
Skic2 A G 17: 35,063,412 (GRCm39) S622P possibly damaging Het
Slc19a1 G A 10: 76,885,440 (GRCm39) G447S probably benign Het
Slc2a6 A T 2: 26,913,143 (GRCm39) Y383* probably null Het
Slc9a9 C A 9: 94,818,424 (GRCm39) Q273K probably benign Het
Sspo T A 6: 48,472,146 (GRCm39) M123K possibly damaging Het
Syne2 A G 12: 76,074,621 (GRCm39) probably null Het
Trdn A C 10: 33,342,450 (GRCm39) K619N probably benign Het
Ttll13 A G 7: 79,899,924 (GRCm39) T119A possibly damaging Het
Ttn T C 2: 76,615,990 (GRCm39) Y8324C probably damaging Het
Ttn T C 2: 76,728,602 (GRCm39) probably benign Het
Vav2 A G 2: 27,186,231 (GRCm39) L208P probably damaging Het
Vmn1r179 A G 7: 23,628,342 (GRCm39) I178V probably benign Het
Vmn1r210 T C 13: 23,011,705 (GRCm39) M194V possibly damaging Het
Vmn2r103 A T 17: 20,032,166 (GRCm39) T647S probably benign Het
Wdr49 T A 3: 75,246,765 (GRCm39) H289L probably benign Het
Wnk2 T G 13: 49,300,159 (GRCm39) K184Q probably damaging Het
Zfp758 A G 17: 22,590,978 (GRCm39) probably benign Het
Other mutations in Spint2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03373:Spint2 APN 7 28,957,634 (GRCm39) splice site probably benign
R1754:Spint2 UTSW 7 28,959,791 (GRCm39) splice site probably null
R1992:Spint2 UTSW 7 28,958,833 (GRCm39) missense probably damaging 1.00
R4172:Spint2 UTSW 7 28,963,097 (GRCm39) missense probably damaging 0.99
R4668:Spint2 UTSW 7 28,959,804 (GRCm39) missense probably damaging 0.96
R4852:Spint2 UTSW 7 28,956,211 (GRCm39) missense probably benign 0.25
R5299:Spint2 UTSW 7 28,963,151 (GRCm39) missense probably damaging 1.00
R6746:Spint2 UTSW 7 28,958,848 (GRCm39) missense probably benign 0.01
R7604:Spint2 UTSW 7 28,957,944 (GRCm39) missense probably damaging 1.00
R8038:Spint2 UTSW 7 28,959,554 (GRCm39) intron probably benign
R8734:Spint2 UTSW 7 28,958,835 (GRCm39) missense probably damaging 0.97
Z1176:Spint2 UTSW 7 28,956,247 (GRCm39) missense possibly damaging 0.61
Z1177:Spint2 UTSW 7 28,963,085 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCGGGTTCTGACAGAAGTAGTAC -3'
(R):5'- CATCAGGACTCTCTGGGAAC -3'

Sequencing Primer
(F):5'- GGTTCTGACAGAAGTAGTACACATCC -3'
(R):5'- AGGCCCAGAACACTTTGCTTC -3'
Posted On 2018-06-06