Mutagenetix > Incidental Mutation

Incidental Mutation 'R9059:Klk15'

688866

Institutional Source

Beutler Lab

Gene Symbol

Klk15

Ensembl Gene

ENSMUSG00000055193

Gene Name

kallikrein related-peptidase 15

Synonyms

MMRRC Submission

068885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9059 (G1)

Quality Score

225.009

Status

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,124,732 (GRCm39)	D48E	probably benign	Het
Ablim2	A	G	5: 35,959,850 (GRCm39)	T101A	probably damaging	Het
Acot8	A	G	2: 164,634,829 (GRCm39)	S316P	probably benign	Het
Acta2	G	T	19: 34,219,155 (GRCm39)	A349D	possibly damaging	Het
Adgrv1	C	A	13: 81,562,692 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,455,073 (GRCm39)	D57G	probably damaging	Het
Azin2	A	G	4: 128,828,440 (GRCm39)	Y351H	probably benign	Het
Ccdc142	T	C	6: 83,079,400 (GRCm39)	C246R	probably damaging	Het
Col25a1	C	A	3: 130,268,499 (GRCm39)	Q179K	unknown	Het
Ddx46	C	T	13: 55,799,921 (GRCm39)	A277V	probably benign	Het
Diaph1	T	A	18: 38,022,798 (GRCm39)	N792I	possibly damaging	Het
Dnah11	G	A	12: 118,094,578 (GRCm39)	P830L	probably benign	Het
Dnah3	C	G	7: 119,684,368 (GRCm39)	R252S	probably benign	Het
Dnah5	A	G	15: 28,245,812 (GRCm39)	D550G	probably benign	Het
Dph3	T	C	14: 31,807,384 (GRCm39)	N31D	probably benign	Het
Dsg1c	A	T	18: 20,408,306 (GRCm39)	T452S	probably damaging	Het
Dsg4	T	A	18: 20,604,182 (GRCm39)	M883K	possibly damaging	Het
Efcab3	T	C	11: 104,642,689 (GRCm39)	V1104A	possibly damaging	Het
Epn1	T	G	7: 5,098,067 (GRCm39)	S293A	probably benign	Het
Fggy	T	A	4: 95,688,841 (GRCm39)	Y318*	probably null	Het
Hip1	A	G	5: 135,457,597 (GRCm39)	L703P	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Igf2r	GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC	GCAGCCCTCCATAGGCGC	17: 12,970,180 (GRCm39)		probably null	Het
Larp4	A	G	15: 99,889,693 (GRCm39)	E204G	probably benign	Het
Lbr	A	G	1: 181,645,119 (GRCm39)	I511T		Het
Lingo3	G	T	10: 80,670,523 (GRCm39)	T469K	probably benign	Het
Lrrc30	A	T	17: 67,938,798 (GRCm39)	W261R	probably damaging	Het
Man2b1	T	C	8: 85,818,155 (GRCm39)	V442A	probably damaging	Het
Mroh3	T	A	1: 136,109,533 (GRCm39)	R891S	probably benign	Het
Mtcl1	T	A	17: 66,650,606 (GRCm39)	M1620L	probably benign	Het
Myo18a	T	C	11: 77,668,899 (GRCm39)	V253A	possibly damaging	Het
Or5b101	A	T	19: 13,005,277 (GRCm39)	C139S	probably damaging	Het
Pcdhb22	A	T	18: 37,652,722 (GRCm39)	N140Y	probably damaging	Het
Ppp1r9b	T	C	11: 94,883,254 (GRCm39)	V294A	probably benign	Het
Ptk7	A	T	17: 46,877,117 (GRCm39)	D980E	probably damaging	Het
Rdh11	T	A	12: 79,238,713 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,365,805 (GRCm39)	L558R	probably damaging	Het
Slc22a26	C	T	19: 7,762,559 (GRCm39)	M460I	probably benign	Het
Smc1b	G	A	15: 85,004,875 (GRCm39)	Q400*	probably null	Het
Spg11	T	C	2: 121,918,788 (GRCm39)	E947G	probably damaging	Het
Stab1	T	C	14: 30,876,805 (GRCm39)	I840V	probably benign	Het
Tlk1	T	C	2: 70,617,277 (GRCm39)	T68A	possibly damaging	Het
Traip	A	G	9: 107,840,549 (GRCm39)	I273V	probably benign	Het
Trim30c	T	G	7: 104,031,272 (GRCm39)	*514C	probably null	Het
U2surp	A	G	9: 95,363,716 (GRCm39)	Y615H	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
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
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'- TTGTATGGGACTCCTGAGCTACTTC -3'
(R):5'- TCACCGATAAGAGGGCAACG -3'

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

Posted On

2021-11-19