Mutagenetix > Incidental Mutation

Incidental Mutation 'R7456:Klk1b5'

578126

Institutional Source

Beutler Lab

Gene Symbol

Klk1b5

Ensembl Gene

ENSMUSG00000066512

Gene Name

kallikrein 1-related peptidase b5

Synonyms

mGK-5, Klk5

MMRRC Submission

045530-MU

Accession Numbers

Essential gene?

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

Stock #

R7456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43865898-43870127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43500255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 281 (E281G)

Ref Sequence

ENSEMBL: ENSMUSP00000049339 (fasta)

Gene Model

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

AlphaFold

P15945

Predicted Effect

probably benign
Transcript: ENSMUST00000048444
AA Change: E281G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049339
Gene: ENSMUSG00000074155
AA Change: E281G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	A	G	4: 86,792,748 (GRCm39)	D8G	possibly damaging	Het
Angpt4	T	C	2: 151,780,987 (GRCm39)	Y412H	probably damaging	Het
Ankef1	A	G	2: 136,387,734 (GRCm39)	D217G	probably benign	Het
Ano2	A	T	6: 125,940,508 (GRCm39)	I544F	probably benign	Het
App	G	A	16: 84,970,448 (GRCm39)			Het
Arhgef26	A	G	3: 62,247,476 (GRCm39)	T187A	probably benign	Het
Axin1	T	A	17: 26,362,139 (GRCm39)	V161E	probably damaging	Het
Bbs7	A	T	3: 36,648,527 (GRCm39)	V407D	probably damaging	Het
C1qtnf3	A	T	15: 10,972,137 (GRCm39)	E141V	probably benign	Het
C2	A	G	17: 35,083,558 (GRCm39)	I469T	probably damaging	Het
Cc2d1a	A	G	8: 84,866,868 (GRCm39)		probably null	Het
Cd226	A	T	18: 89,224,747 (GRCm39)	I10F	probably damaging	Het
Cep295nl	T	C	11: 118,224,376 (GRCm39)	K156R	possibly damaging	Het
Cfap20dc	A	T	14: 8,442,933 (GRCm38)	L612*	probably null	Het
Cfap44	A	G	16: 44,252,305 (GRCm39)	T805A	probably benign	Het
Chd9	G	T	8: 91,659,153 (GRCm39)	E38*	probably null	Het
Cldnd2	C	T	7: 43,091,109 (GRCm39)	L14F	not run	Het
Cyp11b2	T	C	15: 74,725,379 (GRCm39)	T247A	probably benign	Het
Dennd11	T	G	6: 40,383,774 (GRCm39)	M423L	probably benign	Het
Dsc1	T	C	18: 20,219,879 (GRCm39)	S764G	probably benign	Het
Dsg3	A	T	18: 20,664,420 (GRCm39)	T473S	probably benign	Het
Fam193a	A	T	5: 34,578,132 (GRCm39)	I209F	possibly damaging	Het
Foxs1	T	C	2: 152,775,045 (GRCm39)	K3E	probably benign	Het
Gabrr3	C	T	16: 59,227,853 (GRCm39)	Q37*	probably null	Het
Gcm2	A	T	13: 41,256,751 (GRCm39)	W333R	probably benign	Het
Gcn1	C	T	5: 115,743,005 (GRCm39)	Q1559*	probably null	Het
Gfm2	A	T	13: 97,282,211 (GRCm39)	K69*	probably null	Het
Gm14295	T	G	2: 176,500,943 (GRCm39)	C144W	possibly damaging	Het
Gm32742	G	A	9: 51,071,270 (GRCm39)	T5I	probably damaging	Het
Gm5093	T	C	17: 46,750,679 (GRCm39)	D116G	probably damaging	Het
Gsn	A	T	2: 35,172,718 (GRCm39)	K3N	possibly damaging	Het
H2-M2	C	T	17: 37,792,552 (GRCm39)	D240N	possibly damaging	Het
Habp2	G	C	19: 56,307,957 (GRCm39)	G482R	probably damaging	Het
Hnrnpm	A	T	17: 33,865,622 (GRCm39)	Y680N	possibly damaging	Het
Hrc	T	A	7: 44,986,320 (GRCm39)	D490E	possibly damaging	Het
Impg2	A	G	16: 56,080,276 (GRCm39)	I693M	probably benign	Het
Itga7	A	G	10: 128,777,805 (GRCm39)	Y262C	probably damaging	Het
Kif1c	A	G	11: 70,619,424 (GRCm39)	T1020A	probably benign	Het
Kif23	T	C	9: 61,844,402 (GRCm39)	I139V	probably benign	Het
Kpna4	A	G	3: 69,000,181 (GRCm39)	V275A	probably damaging	Het
Lamb2	C	A	9: 108,362,979 (GRCm39)	D787E	possibly damaging	Het
Ldlrad3	A	C	2: 101,785,270 (GRCm39)	V235G	probably damaging	Het
Maneal	A	G	4: 124,750,767 (GRCm39)	S330P	probably damaging	Het
Maz	G	A	7: 126,625,489 (GRCm39)	Q35*	probably null	Het
Mthfd1l	C	T	10: 4,039,998 (GRCm39)	T803M	probably damaging	Het
Muc5ac	A	G	7: 141,346,904 (GRCm39)	Q325R	probably benign	Het
Myo3a	C	A	2: 22,412,255 (GRCm39)	A758E	probably benign	Het
Ndufb7	A	G	8: 84,293,482 (GRCm39)	D12G	probably benign	Het
Nsun2	T	A	13: 69,781,725 (GRCm39)	C677S	probably damaging	Het
Obscn	A	G	11: 58,899,384 (GRCm39)	F6471S	probably benign	Het
Or4c106	A	T	2: 88,682,563 (GRCm39)	I90F	probably damaging	Het
Or51k1	A	G	7: 103,661,045 (GRCm39)	V288A	possibly damaging	Het
Or7g32	T	C	9: 19,408,844 (GRCm39)	S267P	probably damaging	Het
Otof	T	C	5: 30,552,005 (GRCm39)	D313G	probably damaging	Het
Paqr5	T	C	9: 61,880,072 (GRCm39)	D74G	probably benign	Het
Pigq	A	G	17: 26,153,580 (GRCm39)	V365A	unknown	Het
Podn	A	T	4: 107,875,002 (GRCm39)	N588K	probably benign	Het
Polr3b	G	A	10: 84,458,355 (GRCm39)	G9R	probably benign	Het
Proser1	A	G	3: 53,385,939 (GRCm39)	H607R	probably damaging	Het
Ryr2	C	T	13: 11,767,168 (GRCm39)	V1241I	probably benign	Het
Sar1b	G	A	11: 51,682,181 (GRCm39)	A170T	probably benign	Het
Slc22a17	T	C	14: 55,149,716 (GRCm39)	T191A	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,779 (GRCm39)		unknown	Het
Slco6d1	A	T	1: 98,349,082 (GRCm39)	D51V	possibly damaging	Het
Snx16	G	A	3: 10,500,541 (GRCm39)	R143*	probably null	Het
Sytl2	T	A	7: 89,998,055 (GRCm39)	L19Q	probably damaging	Het
Tmcc3	A	G	10: 94,418,174 (GRCm39)	E345G	possibly damaging	Het
Ttn	C	T	2: 76,555,998 (GRCm39)	A30336T	probably damaging	Het
Vmn1r44	A	G	6: 89,870,401 (GRCm39)	D49G	probably benign	Het
Vps35l	C	T	7: 118,403,340 (GRCm39)	P628S	probably benign	Het
Vps41	T	A	13: 19,048,204 (GRCm39)	D801E	probably benign	Het
Wif1	G	A	10: 120,932,554 (GRCm39)	E311K	probably benign	Het
Zfp513	G	T	5: 31,357,759 (GRCm39)	R207S	possibly damaging	Het
Zfp52	C	A	17: 21,781,615 (GRCm39)	H488N	probably damaging	Het
Zfp738	A	G	13: 67,817,619 (GRCm39)	Y791H	probably damaging	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
R3700:Klk1b5	UTSW	7	43,500,251 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCGATTGACCTCACCACAC -3'
(R):5'- TTCAGGAAGTGTCCCTAGGGTC -3'

Sequencing Primer
(F):5'- GATTGACCTCACCACACCCCTG -3'
(R):5'- TCCCTAGGGTCTGGCTATAGAAAC -3'

Posted On

2019-10-07