Mutagenetix > Incidental Mutation

Incidental Mutation 'R3700:Klk1b5'

269954

Institutional Source

Beutler Lab

Gene Symbol

Klk1b5

Ensembl Gene

ENSMUSG00000066512

Gene Name

kallikrein 1-related peptidase b5

Synonyms

mGK-5, Klk5

MMRRC Submission

040693-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R3700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43865898-43870127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43500251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 280 (C280S)

Ref Sequence

ENSEMBL: ENSMUSP00000049339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048444]

AlphaFold

P15945

Predicted Effect

probably damaging
Transcript: ENSMUST00000048444
AA Change: C280S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049339
Gene: ENSMUSG00000074155
AA Change: C280S

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Tryp_SPc	67	286	9.24e-88	SMART

Meta Mutation Damage Score

0.8383

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	G	A	18: 65,438,222 (GRCm39)	T1524I	probably damaging	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Arhgap26	T	A	18: 39,253,237 (GRCm39)	F221L	probably damaging	Het
Arhgap28	T	C	17: 68,208,361 (GRCm39)	S36G	probably damaging	Het
Bcl11a	A	G	11: 24,113,890 (GRCm39)	D411G	probably damaging	Het
Cdh23	C	A	10: 60,163,149 (GRCm39)		probably null	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Coro6	T	C	11: 77,358,129 (GRCm39)	F238S	probably damaging	Het
Ddah1	G	A	3: 145,597,250 (GRCm39)	M162I	probably benign	Het
Dnah5	T	C	15: 28,387,937 (GRCm39)	I3132T	possibly damaging	Het
Drgx	A	T	14: 32,350,818 (GRCm39)	E218V	probably damaging	Het
Dync2i1	C	T	12: 116,175,462 (GRCm39)	W905*	probably null	Het
Eif3f	A	T	7: 108,539,482 (GRCm39)	I251F	probably benign	Het
Ephx4	T	C	5: 107,550,673 (GRCm39)	F11L	probably benign	Het
Esp1	T	C	17: 41,041,998 (GRCm39)	S97P	unknown	Het
Fbxw10	A	T	11: 62,759,983 (GRCm39)		probably null	Het
Hsp90ab1	T	C	17: 45,882,440 (GRCm39)	T85A	possibly damaging	Het
Idh2	T	C	7: 79,748,895 (GRCm39)	K129E	probably damaging	Het
Kcnj6	A	G	16: 94,633,865 (GRCm39)	I64T	probably damaging	Het
Lhx2	T	A	2: 38,250,111 (GRCm39)	L269H	probably damaging	Het
Lrrc71	T	A	3: 87,653,185 (GRCm39)		probably null	Het
Lss	T	A	10: 76,382,026 (GRCm39)	L484Q	probably damaging	Het
Mmp14	G	A	14: 54,669,389 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,400,986 (GRCm39)	T534A	unknown	Het
Mysm1	T	C	4: 94,858,889 (GRCm39)	K87E	probably benign	Het
Or6d13	T	A	6: 116,517,489 (GRCm39)	V25E	probably benign	Het
Or6f2	C	G	7: 139,756,127 (GRCm39)	F37L	possibly damaging	Het
Pcolce	T	C	5: 137,607,309 (GRCm39)	T61A	probably damaging	Het
Phc3	C	A	3: 30,968,277 (GRCm39)	D920Y	probably damaging	Het
Pi4kb	T	C	3: 94,901,599 (GRCm39)	I422T	probably benign	Het
Piezo1	C	T	8: 123,221,642 (GRCm39)	R584H	probably damaging	Het
Plce1	T	A	19: 38,693,781 (GRCm39)	F768Y	probably damaging	Het
Ppp1r21	T	C	17: 88,889,882 (GRCm39)	S709P	possibly damaging	Het
Prdx6	T	C	1: 161,074,858 (GRCm39)	D74G	probably damaging	Het
Rlf	A	G	4: 121,008,060 (GRCm39)	F307L	possibly damaging	Het
Skic2	T	C	17: 35,068,879 (GRCm39)	E40G	probably benign	Het
Snapin	G	A	3: 90,397,499 (GRCm39)	R91*	probably null	Het
Sort1	T	A	3: 108,263,955 (GRCm39)	L838*	probably null	Het
Sstr4	A	G	2: 148,238,273 (GRCm39)	I295V	possibly damaging	Het
Stk39	T	A	2: 68,222,462 (GRCm39)	I201F	probably damaging	Het
Tasp1	T	C	2: 139,752,474 (GRCm39)	T322A	probably benign	Het
Tepsin	C	T	11: 119,982,579 (GRCm39)	C491Y	possibly damaging	Het
Tlr9	G	A	9: 106,101,278 (GRCm39)	V190M	probably damaging	Het
Ttf2	A	G	3: 100,858,324 (GRCm39)	L755P	probably damaging	Het
Txn2	G	A	15: 77,811,976 (GRCm39)	T60M	possibly damaging	Het
Vmn1r10	A	G	6: 57,091,287 (GRCm39)	N293S	probably benign	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r111	C	T	17: 22,790,142 (GRCm39)	W288*	probably null	Het
Vmn2r118	T	C	17: 55,915,421 (GRCm39)	S510G	possibly damaging	Het
Zgpat	T	A	2: 181,007,439 (GRCm39)		probably benign	Het
Zzef1	G	T	11: 72,777,598 (GRCm39)	G1810C	probably null	Het

Other mutations in Klk1b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Klk1b5	APN	7	43,865,928 (GRCm39)	missense	probably benign	0.00
IGL02379:Klk1b5	APN	7	43,500,246 (GRCm39)	missense	probably damaging	0.99
R0515:Klk1b5	UTSW	7	43,867,957 (GRCm39)	missense	probably damaging	1.00
R0706:Klk1b5	UTSW	7	43,867,938 (GRCm39)	missense	probably damaging	1.00
R1209:Klk1b5	UTSW	7	43,496,422 (GRCm39)	missense	probably damaging	0.99
R1227:Klk1b5	UTSW	7	43,496,670 (GRCm39)	splice site	probably null
R1261:Klk1b5	UTSW	7	43,494,714 (GRCm39)	missense	probably damaging	0.98
R1689:Klk1b5	UTSW	7	43,869,969 (GRCm39)	missense	probably damaging	0.98
R1845:Klk1b5	UTSW	7	43,869,549 (GRCm39)	missense	probably benign
R2153:Klk1b5	UTSW	7	43,869,322 (GRCm39)	critical splice donor site	probably null
R4612:Klk1b5	UTSW	7	43,494,696 (GRCm39)	missense	possibly damaging	0.66
R4825:Klk1b5	UTSW	7	43,494,814 (GRCm39)	missense	probably damaging	1.00
R7456:Klk1b5	UTSW	7	43,500,255 (GRCm39)	missense	probably benign	0.02
R7556:Klk1b5	UTSW	7	43,496,649 (GRCm39)	missense	probably damaging	0.99
R8264:Klk1b5	UTSW	7	43,869,454 (GRCm39)	missense	probably damaging	1.00
R8402:Klk1b5	UTSW	7	43,867,962 (GRCm39)	missense	probably benign	0.01
R8475:Klk1b5	UTSW	7	43,500,204 (GRCm39)	missense	possibly damaging	0.64
R8711:Klk1b5	UTSW	7	43,867,996 (GRCm39)	missense	probably benign	0.02
R8813:Klk1b5	UTSW	7	43,496,549 (GRCm39)	missense	probably benign	0.08
R8886:Klk1b5	UTSW	7	43,869,192 (GRCm39)	missense	probably damaging	1.00
R9101:Klk1b5	UTSW	7	43,500,205 (GRCm39)	missense	probably benign	0.44
RF024:Klk1b5	UTSW	7	43,491,798 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GCATGGTACTGAATGTCTTGCTC -3'
(R):5'- GTCTGGCTATAGAAACGGGG -3'

Sequencing Primer
(F):5'- GGTACTGAATGTCTTGCTCCTCCTC -3'
(R):5'- CAGTCCACTGTGAGGGATG -3'

Posted On

2015-03-18