Incidental Mutation 'R4552:Klk4'
ID 334010
Institutional Source Beutler Lab
Gene Symbol Klk4
Ensembl Gene ENSMUSG00000006948
Gene Name kallikrein related-peptidase 4 (prostase, enamel matrix, prostate)
Synonyms ESMP1, KLK-L1, Prss17
MMRRC Submission 041783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4552 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43530584-43535228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43533443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 101 (H101N)
Ref Sequence ENSEMBL: ENSMUSP00000007161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007161]
AlphaFold Q9Z0M1
Predicted Effect probably benign
Transcript: ENSMUST00000007161
AA Change: H101N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007161
Gene: ENSMUSG00000006948
AA Change: H101N

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Tryp_SPc 31 248 2.42e-82 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 97% (62/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced enamel strength that leads to enamel fracturing, delayed postnatal growth, and decreased survival to maturity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Arhgap33 A T 7: 30,218,533 (GRCm39) probably benign Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Camta1 T C 4: 151,876,959 (GRCm39) R79G probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Cep128 T C 12: 91,260,936 (GRCm39) E309G probably damaging Het
Chit1 A G 1: 134,071,789 (GRCm39) T100A probably benign Het
Dalrd3 A G 9: 108,449,429 (GRCm39) D454G possibly damaging Het
Ddx19a G A 8: 111,705,198 (GRCm39) Q308* probably null Het
Dmxl2 T C 9: 54,359,047 (GRCm39) N395S probably damaging Het
Dnah17 T C 11: 117,943,769 (GRCm39) D3125G possibly damaging Het
Dnah5 T C 15: 28,397,300 (GRCm39) V3331A probably benign Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dner T C 1: 84,361,578 (GRCm39) Y677C probably damaging Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Hid1 G A 11: 115,249,505 (GRCm39) T240M possibly damaging Het
Igbp1b T A 6: 138,635,112 (GRCm39) M111L probably benign Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Mrgpra2b C A 7: 47,113,754 (GRCm39) S300I probably benign Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Nbas T C 12: 13,385,938 (GRCm39) probably null Het
Nif3l1 C T 1: 58,488,483 (GRCm39) probably benign Het
Noct T A 3: 51,157,589 (GRCm39) I309N probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf2l A T 3: 144,856,844 (GRCm39) T600S probably benign Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or1m1 A G 9: 18,666,430 (GRCm39) V167A possibly damaging Het
Or2y1e A T 11: 49,218,777 (GRCm39) M180L probably benign Het
Or6c217 T C 10: 129,737,992 (GRCm39) M196V probably benign Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Parpbp T A 10: 87,929,564 (GRCm39) Q428L possibly damaging Het
Pclo T C 5: 14,719,285 (GRCm39) S1141P unknown Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Ppargc1a C T 5: 51,620,557 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,813,346 (GRCm39) I416L probably benign Het
Rhpn1 G A 15: 75,585,968 (GRCm39) R627H probably benign Het
Ric8a G A 7: 140,441,250 (GRCm39) G182S probably damaging Het
Rims1 T C 1: 22,443,718 (GRCm39) D895G probably damaging Het
Rrp1b G A 17: 32,274,984 (GRCm39) probably benign Het
Rtf1 T A 2: 119,561,210 (GRCm39) D636E probably benign Het
Scn3a T C 2: 65,354,523 (GRCm39) D333G probably benign Het
Sema6a A G 18: 47,424,990 (GRCm39) L207P probably damaging Het
Shcbp1 A T 8: 4,799,779 (GRCm39) Y160* probably null Het
Slc27a1 A T 8: 72,032,710 (GRCm39) probably null Het
Ston2 C T 12: 91,608,646 (GRCm39) R818Q probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Tjap1 A T 17: 46,570,953 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Vmn1r57 A G 7: 5,223,667 (GRCm39) D64G possibly damaging Het
Vmn2r73 T A 7: 85,525,055 (GRCm39) D31V probably benign Het
Vmn2r-ps41 A T 7: 9,180,063 (GRCm39) noncoding transcript Het
Other mutations in Klk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0200:Klk4 UTSW 7 43,534,785 (GRCm39) missense probably damaging 1.00
R0385:Klk4 UTSW 7 43,533,432 (GRCm39) missense probably benign 0.02
R1381:Klk4 UTSW 7 43,534,706 (GRCm39) missense probably damaging 1.00
R4329:Klk4 UTSW 7 43,533,830 (GRCm39) missense probably damaging 1.00
R4600:Klk4 UTSW 7 43,534,762 (GRCm39) missense probably damaging 1.00
R6023:Klk4 UTSW 7 43,533,482 (GRCm39) missense probably benign 0.00
R7164:Klk4 UTSW 7 43,531,122 (GRCm39) missense possibly damaging 0.87
R7995:Klk4 UTSW 7 43,533,010 (GRCm39) missense probably damaging 1.00
R9188:Klk4 UTSW 7 43,534,797 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAAGTGGCCACAGTGTTGAG -3'
(R):5'- CAGCAGCTTACCATTCTTTAGTTG -3'

Sequencing Primer
(F):5'- CCTAAGGGACAGGGCAGTC -3'
(R):5'- GTTGACCCCAACCAGAGACTAGG -3'
Posted On 2015-08-18