Mutagenetix > Incidental Mutation

Incidental Mutation 'R5859:Klk15'

455059

Institutional Source

Beutler Lab

Gene Symbol

Klk15

Ensembl Gene

ENSMUSG00000055193

Gene Name

kallikrein related-peptidase 15

Synonyms

MMRRC Submission

044071-MU

Accession Numbers

Essential gene?

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

Stock #

R5859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43583164-43589063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43587800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 76 (R76H)

Ref Sequence

ENSEMBL: ENSMUSP00000066969 (fasta)

Gene Model

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

AlphaFold

Q8CGR4

Predicted Effect

probably benign
Transcript: ENSMUST00000068625
AA Change: R76H

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066969
Gene: ENSMUSG00000055193
AA Change: R76H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206172

Predicted Effect

unknown
Transcript: ENSMUST00000206955
AA Change: R68H

Meta Mutation Damage Score

0.1220

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

93% (70/75)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,303,477 (GRCm39)	V150E	probably benign	Het
Alg11	A	G	8: 22,555,857 (GRCm39)	K373E	probably benign	Het
Arl14ep	C	T	2: 106,799,398 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,608,284 (GRCm39)	G227R	probably benign	Het
Ash1l	C	T	3: 88,976,300 (GRCm39)	P2627S	probably damaging	Het
Btla	T	G	16: 45,059,402 (GRCm39)		probably null	Het
Btnl10	C	T	11: 58,813,138 (GRCm39)	P256S	probably benign	Het
Cep162	C	T	9: 87,086,145 (GRCm39)	A1060T	probably damaging	Het
Cfap54	T	A	10: 92,852,386 (GRCm39)	K907*	probably null	Het
Chpf	A	T	1: 75,452,072 (GRCm39)	F461I	probably damaging	Het
Chrdl2	A	G	7: 99,670,114 (GRCm39)	Y79C	probably damaging	Het
Copb2	G	A	9: 98,450,161 (GRCm39)	C40Y	probably benign	Het
Cyfip1	T	C	7: 55,574,929 (GRCm39)	L1060P	probably damaging	Het
Drg1	G	A	11: 3,209,273 (GRCm39)		probably benign	Het
Erich3	A	G	3: 154,468,134 (GRCm39)	D862G	possibly damaging	Het
Flii	G	T	11: 60,607,137 (GRCm39)	Y946*	probably null	Het
Glt8d2	T	C	10: 82,507,915 (GRCm39)	M1V	probably null	Het
Gm21136	T	A	7: 38,567,165 (GRCm39)		noncoding transcript	Het
Gramd1c	T	C	16: 43,812,454 (GRCm39)	T393A	possibly damaging	Het
Gucy2d	T	A	7: 98,101,090 (GRCm39)	I471N	probably benign	Het
Hps3	G	A	3: 20,063,034 (GRCm39)	T711M	probably benign	Het
Hs3st4	A	T	7: 123,582,831 (GRCm39)	D143V	probably benign	Het
Kif17	T	A	4: 138,018,744 (GRCm39)	M461K	possibly damaging	Het
Klhdc7a	T	A	4: 139,694,885 (GRCm39)	S21C	probably damaging	Het
Lnpk	G	A	2: 74,399,372 (GRCm39)	T57I	possibly damaging	Het
Ltbp2	A	G	12: 84,840,837 (GRCm39)	V999A	possibly damaging	Het
Ltbr	T	C	6: 125,289,771 (GRCm39)	H141R	probably damaging	Het
Lvrn	T	C	18: 47,026,816 (GRCm39)	F805L	probably damaging	Het
Ms4a13	A	T	19: 11,161,280 (GRCm39)	C86*	probably null	Het
Ncbp1	A	G	4: 46,163,026 (GRCm39)	N480S	probably benign	Het
Nelfcd	T	G	2: 174,268,856 (GRCm39)	*592G	probably null	Het
Neurog2	T	C	3: 127,427,664 (GRCm39)	V96A	probably benign	Het
Nod1	A	T	6: 54,907,162 (GRCm39)	W902R	probably benign	Het
Or12d13	T	C	17: 37,647,260 (GRCm39)	I288V	possibly damaging	Het
Or4k15c	T	A	14: 50,321,484 (GRCm39)	Y218F	probably damaging	Het
Or55b3	T	C	7: 102,126,957 (GRCm39)	Y40C	possibly damaging	Het
Or6d13	T	C	6: 116,517,861 (GRCm39)	L149P	probably damaging	Het
Pcdha11	A	T	18: 37,140,336 (GRCm39)	H655L	probably damaging	Het
Plpp7	A	G	2: 31,985,996 (GRCm39)	E58G	probably benign	Het
Psph	A	T	5: 129,867,685 (GRCm39)		probably benign	Het
Rab11fip1	A	C	8: 27,644,748 (GRCm39)	S346A	probably damaging	Het
Rreb1	C	A	13: 38,131,384 (GRCm39)	P1513T	probably benign	Het
Rreb1	C	T	13: 38,131,385 (GRCm39)	P1513L	probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Scap	A	G	9: 110,203,115 (GRCm39)	N263S	probably benign	Het
Sec24d	A	T	3: 123,072,961 (GRCm39)		probably benign	Het
Slain2	T	C	5: 73,105,888 (GRCm39)		probably benign	Het
Slc6a18	G	T	13: 73,816,278 (GRCm39)	T367N	probably benign	Het
Slk	T	A	19: 47,597,481 (GRCm39)	D96E	probably benign	Het
Spag5	G	A	11: 78,204,360 (GRCm39)	V514I	probably benign	Het
St8sia2	T	C	7: 73,616,654 (GRCm39)	D107G	probably damaging	Het
Tgfbr3	T	A	5: 107,288,381 (GRCm39)	I427F	probably benign	Het
Tlr2	T	G	3: 83,743,810 (GRCm39)	T758P	possibly damaging	Het
Tmem270	A	G	5: 134,931,738 (GRCm39)	V68A	probably benign	Het
Vmn2r106	T	A	17: 20,505,583 (GRCm39)	H37L	possibly damaging	Het
Vmn2r27	T	G	6: 124,177,647 (GRCm39)	R452S	probably damaging	Het
Wdr5	A	G	2: 27,423,362 (GRCm39)	Y252C	probably damaging	Het
Zswim9	C	T	7: 12,995,371 (GRCm39)	V262M	probably damaging	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
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
R9175: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'- TGGGACTCCTGAGCTACTTC -3'
(R):5'- CTCACCGATAAGAGGGCAAC -3'

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

Posted On

2017-02-10