Mutagenetix > Incidental Mutation

Incidental Mutation 'R9175:Klk15'

696621

Institutional Source

Beutler Lab

Gene Symbol

Klk15

Ensembl Gene

ENSMUSG00000055193

Gene Name

kallikrein related-peptidase 15

Synonyms

MMRRC Submission

068948-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9175 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43583164-43589063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43587790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 73 (H73Y)

Ref Sequence

ENSEMBL: ENSMUSP00000066969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068625]

AlphaFold

Q8CGR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068625
AA Change: H73Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066969
Gene: ENSMUSG00000055193
AA Change: H73Y

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Tryp_SPc	19	247	4.05e-93	SMART

Predicted Effect

Meta Mutation Damage Score

0.1468

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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 prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	A	7: 12,249,412 (GRCm39)	D82N	probably benign	Het
Abca13	A	G	11: 9,531,593 (GRCm39)	K4607E	probably damaging	Het
Agpat4	G	C	17: 12,417,669 (GRCm39)	G70A	probably damaging	Het
Ank2	G	A	3: 126,722,402 (GRCm39)	T1017I	possibly damaging	Het
C2cd2	T	C	16: 97,678,421 (GRCm39)	I339V	probably benign	Het
Cacna1a	A	T	8: 85,296,644 (GRCm39)	N1221Y	probably damaging	Het
Cacna1e	A	G	1: 154,274,314 (GRCm39)	V2197A	probably damaging	Het
Ccdc74a	T	C	16: 17,468,042 (GRCm39)	S101P	probably benign	Het
Cdh13	A	T	8: 119,968,968 (GRCm39)	I442F	probably damaging	Het
Cnot2	A	T	10: 116,334,051 (GRCm39)	M373K	possibly damaging	Het
Coch	C	A	12: 51,645,060 (GRCm39)	H205N	possibly damaging	Het
Col6a4	A	G	9: 105,957,560 (GRCm39)	V88A	probably benign	Het
Erich3	A	G	3: 154,419,601 (GRCm39)	T35A	probably benign	Het
Gm28360	A	T	1: 117,781,328 (GRCm39)	K106N	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspg2	T	C	4: 137,256,657 (GRCm39)	F1467L	probably damaging	Het
Ighg2c	T	C	12: 113,252,499 (GRCm39)	T18A		Het
Iqcm	A	G	8: 76,710,867 (GRCm39)	K472E	possibly damaging	Het
Kcnk5	A	T	14: 20,192,117 (GRCm39)	V348D	probably benign	Het
Kcns3	C	T	12: 11,169,801 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,366,093 (GRCm39)	D2787G	possibly damaging	Het
Nasp	A	G	4: 116,471,576 (GRCm39)	C84R	probably damaging	Het
Nfia	G	A	4: 97,671,362 (GRCm39)	R24H	probably damaging	Het
Opa3	C	T	7: 18,989,466 (GRCm39)	R110C	probably damaging	Het
Or2t48	T	C	11: 58,420,590 (GRCm39)	D74G	probably damaging	Het
Or8k25	A	G	2: 86,244,099 (GRCm39)	I99T	probably benign	Het
Pdia4	A	C	6: 47,775,417 (GRCm39)	S464R	possibly damaging	Het
Rab3gap2	A	G	1: 185,009,360 (GRCm39)	D1092G	probably damaging	Het
Rev3l	A	G	10: 39,730,764 (GRCm39)	K2763E	possibly damaging	Het
Sanbr	A	T	11: 23,534,518 (GRCm39)		probably null	Het
Sorbs1	A	T	19: 40,315,018 (GRCm39)	L598Q	probably damaging	Het
Sppl2b	A	T	10: 80,698,807 (GRCm39)	M154L	probably benign	Het
Stk33	A	G	7: 108,920,724 (GRCm39)	I331T	probably damaging	Het
Strip2	A	G	6: 29,933,035 (GRCm39)	E494G	probably benign	Het
Supt6	C	T	11: 78,112,052 (GRCm39)	R1010Q	possibly damaging	Het
Tada1	G	A	1: 166,210,005 (GRCm39)	R69H	probably damaging	Het
Tent4a	A	G	13: 69,663,915 (GRCm39)	L268P	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tomm34	A	G	2: 163,912,385 (GRCm39)		probably null	Het
Tpi1	T	C	6: 124,788,871 (GRCm39)	T223A	probably damaging	Het
Trpc3	T	A	3: 36,709,279 (GRCm39)	N399I	probably benign	Het
Vgll2	A	G	10: 51,903,635 (GRCm39)	H166R	probably damaging	Het
Vmn2r107	A	T	17: 20,577,051 (GRCm39)	I350F	possibly damaging	Het
Vmn2r114	T	A	17: 23,527,212 (GRCm39)	K440M	probably damaging	Het
Vmn2r55	T	C	7: 12,385,793 (GRCm39)	Y729C	possibly damaging	Het
Zfp106	G	T	2: 120,353,197 (GRCm39)	A1554E	probably damaging	Het
Zfyve27	A	G	19: 42,169,997 (GRCm39)	Y176C	probably damaging	Het
Zswim5	T	A	4: 116,822,941 (GRCm39)	N470K	probably benign	Het

Other mutations in Klk15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Klk15	APN	7	43,588,262 (GRCm39)	missense	probably damaging	1.00
IGL03113:Klk15	APN	7	43,587,805 (GRCm39)	missense	probably benign	0.00
R0562:Klk15	UTSW	7	43,588,269 (GRCm39)	nonsense	probably null
R1768:Klk15	UTSW	7	43,587,757 (GRCm39)	splice site	probably benign
R4093:Klk15	UTSW	7	43,588,204 (GRCm39)	missense	possibly damaging	0.67
R5859:Klk15	UTSW	7	43,587,800 (GRCm39)	missense	probably benign	0.17
R5899:Klk15	UTSW	7	43,588,247 (GRCm39)	missense	probably benign	0.02
R5907:Klk15	UTSW	7	43,588,183 (GRCm39)	missense	probably benign	0.16
R7781:Klk15	UTSW	7	43,588,980 (GRCm39)	missense	probably benign	0.44
R9029:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9030:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9058:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9059:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9061:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9105:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9173:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9174:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9228:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9231:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9235:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9236:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9331:Klk15	UTSW	7	43,587,790 (GRCm39)	missense	possibly damaging	0.90
R9523:Klk15	UTSW	7	43,587,770 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATGGGACTCCTGAGCTACTTCC -3'
(R):5'- CTCACCGATAAGAGGGCAAC -3'

Sequencing Primer
(F):5'- GCTCTAGAACTCACCGTGTAG -3'
(R):5'- AGGGCAACGTCTGGGCAG -3'

Posted On

2022-02-07