Incidental Mutation 'R6746:Spint2'
ID 532832
Institutional Source Beutler Lab
Gene Symbol Spint2
Ensembl Gene ENSMUSG00000074227
Gene Name serine protease inhibitor, Kunitz type 2
Synonyms HAI-2
MMRRC Submission 044863-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6746 (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 T at 28958848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 66 (S66T)
Ref Sequence ENSEMBL: ENSMUSP00000103871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098604] [ENSMUST00000108236] [ENSMUST00000207601]
AlphaFold Q9WU03
Predicted Effect probably benign
Transcript: ENSMUST00000098604
AA Change: S123T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000096204
Gene: ENSMUSG00000074227
AA Change: S123T

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
AA Change: S66T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103871
Gene: ENSMUSG00000074227
AA Change: S66T

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
Meta Mutation Damage Score 0.0931 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,565,195 (GRCm39) L79* probably null Het
Acot3 A G 12: 84,100,248 (GRCm39) N8S probably benign Het
Adora2a T C 10: 75,169,442 (GRCm39) V302A probably benign Het
Anpep A C 7: 79,488,933 (GRCm39) probably null Het
Arrb1 A G 7: 99,250,357 (GRCm39) K392E probably benign Het
Atp8a1 A T 5: 67,908,392 (GRCm39) N444K probably benign Het
Bltp3b T A 10: 89,623,020 (GRCm39) N298K probably benign Het
Brinp2 C T 1: 158,094,160 (GRCm39) G181R probably benign Het
Cacna1g A T 11: 94,300,253 (GRCm39) C2184* probably null Het
Cacna1h C T 17: 25,600,524 (GRCm39) A1606T probably damaging Het
Ccdc30 T C 4: 119,213,915 (GRCm39) T205A probably benign Het
Celsr1 A G 15: 85,915,696 (GRCm39) I759T probably damaging Het
Chaf1a A G 17: 56,370,404 (GRCm39) D623G possibly damaging Het
Col6a3 G T 1: 90,706,767 (GRCm39) N2115K unknown Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Erich6 T C 3: 58,523,987 (GRCm39) D629G possibly damaging Het
Fahd1 G T 17: 25,068,915 (GRCm39) A54E probably damaging Het
Flrt3 C T 2: 140,501,945 (GRCm39) R561Q probably damaging Het
Grm6 A T 11: 50,747,790 (GRCm39) D334V probably damaging Het
Helb A T 10: 119,941,373 (GRCm39) D438E probably damaging Het
Hmgcs1 T C 13: 120,156,585 (GRCm39) probably null Het
Hnf4g C A 3: 3,722,170 (GRCm39) Y441* probably null Het
Hspa13 A T 16: 75,561,925 (GRCm39) N91K possibly damaging Het
Ilvbl T C 10: 78,413,057 (GRCm39) I193T possibly damaging Het
Itga7 T C 10: 128,785,341 (GRCm39) V848A probably benign Het
Kash5 C T 7: 44,849,735 (GRCm39) V63I probably benign Het
Lpin1 A G 12: 16,615,529 (GRCm39) M341T probably benign Het
Lypd5 G T 7: 24,052,531 (GRCm39) probably null Het
Mrgprb1 A C 7: 48,097,645 (GRCm39) V89G possibly damaging Het
Nsun7 T C 5: 66,441,080 (GRCm39) probably null Het
Oasl1 T A 5: 115,075,242 (GRCm39) V434E probably damaging Het
Or2ak6 G A 11: 58,593,369 (GRCm39) V281I probably benign Het
Or7g22 A G 9: 19,048,774 (GRCm39) M162V probably benign Het
Or8k16 T C 2: 85,519,952 (GRCm39) Y60H probably damaging Het
Otor T A 2: 142,921,955 (GRCm39) probably null Het
Pik3cg G A 12: 32,244,757 (GRCm39) T899M probably damaging Het
Plaat5 A G 19: 7,590,695 (GRCm39) D74G probably benign Het
Pld2 C A 11: 70,431,933 (GRCm39) L52M probably damaging Het
Pon3 A T 6: 5,230,786 (GRCm39) M247K possibly damaging Het
Ppfia2 C A 10: 106,742,319 (GRCm39) Y1037* probably null Het
Ppm1m A T 9: 106,075,351 (GRCm39) C99* probably null Het
Prss44 A T 9: 110,644,361 (GRCm39) *145C probably null Het
Ptpro T A 6: 137,371,821 (GRCm39) Y613N probably damaging Het
Ralgapb T G 2: 158,318,056 (GRCm39) V866G probably damaging Het
Rassf6 C A 5: 90,757,633 (GRCm39) R109L possibly damaging Het
Rbm4b A C 19: 4,812,031 (GRCm39) T147P probably benign Het
Rpl7l1 T C 17: 47,090,322 (GRCm39) K104R probably benign Het
Ryr1 A T 7: 28,816,829 (GRCm39) I69N possibly damaging Het
Scd1 G T 19: 44,394,927 (GRCm39) F99L probably benign Het
Semp2l1 A T 1: 32,585,844 (GRCm39) I22N probably benign Het
Tarm1 T A 7: 3,550,978 (GRCm39) I2F probably benign Het
Tenm4 T C 7: 96,542,067 (GRCm39) V1860A probably damaging Het
Usp38 A G 8: 81,740,920 (GRCm39) I49T possibly damaging Het
Vars2 A G 17: 35,971,294 (GRCm39) probably null Het
Vmn2r27 T G 6: 124,177,552 (GRCm39) H484P possibly damaging Het
Wdr35 T A 12: 9,053,982 (GRCm39) probably null Het
Zfp937 A T 2: 150,081,343 (GRCm39) K458* probably null 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
R6501:Spint2 UTSW 7 28,963,131 (GRCm39) missense probably damaging 1.00
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'- ACATCTGGATTGCCGACAG -3'
(R):5'- TGAGGTAGCAAGAGTCCCACTC -3'

Sequencing Primer
(F):5'- ATTGCCGACAGCCTGCG -3'
(R):5'- ACCTCCAGTGGGTGTTCAG -3'
Posted On 2018-08-29