Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Klk1b3'

534715

Institutional Source

Beutler Lab

Gene Symbol

Klk1b3

Ensembl Gene

ENSMUSG00000066515

Gene Name

kallikrein 1-related peptidase b3

Synonyms

Ngfg, mGk-3, Ngfg

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43847615-43851775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43851127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 187 (A187T)

Ref Sequence

ENSEMBL: ENSMUSP00000082577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085450]

AlphaFold

P00756

PDB Structure

CRYSTAL STRUCTURE OF 7S NGF: A COMPLEX OF NERVE GROWTH FACTOR WITH FOUR BINDING PROTEINS (SERINE PROTEINASES) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000085450
AA Change: A187T

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000082577
Gene: ENSMUSG00000066515
AA Change: A187T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	8.28e-99	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

MGI Phenotype

FUNCTION: This gene encodes the gamma subunit of the 7S nerve growth factor (NGF) complex that is essential for the differentiation and survival of distinct populations of neurons in both the central and the peripheral nervous systems. The encoded protein is a glandular kallikrein-type serine protease that processes the beta subunit of NGF. This gene is present in a cluster of multiple related kallikrein-type protease genes on chromosome 7. [provided by RefSeq, Jul 2015]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	Het

Other mutations in Klk1b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
delicato	UTSW	7	43,849,828 (GRCm39)	splice site	probably null
fragile	UTSW	7	43,851,111 (GRCm39)	missense	probably damaging	1.00
R1294:Klk1b3	UTSW	7	43,849,720 (GRCm39)	missense	probably damaging	1.00
R4131:Klk1b3	UTSW	7	43,851,111 (GRCm39)	missense	probably damaging	1.00
R4611:Klk1b3	UTSW	7	43,850,689 (GRCm39)	missense	possibly damaging	0.84
R6086:Klk1b3	UTSW	7	43,851,158 (GRCm39)	missense	probably damaging	1.00
R6631:Klk1b3	UTSW	7	43,850,888 (GRCm39)	missense	probably benign	0.08
R7054:Klk1b3	UTSW	7	43,850,863 (GRCm39)	missense	probably damaging	0.99
R7215:Klk1b3	UTSW	7	43,849,828 (GRCm39)	splice site	probably null
R8816:Klk1b3	UTSW	7	43,851,668 (GRCm39)	missense	possibly damaging	0.74
R8938:Klk1b3	UTSW	7	43,849,729 (GRCm39)	missense	probably damaging	1.00
Z1088:Klk1b3	UTSW	7	43,849,729 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAAATGTGAGTCTGGTCCAAGC -3'
(R):5'- CCCTAAGACAAGTCACAGGG -3'

Sequencing Primer
(F):5'- GTCTGGTCCAAGCAACATAGCTG -3'
(R):5'- TAGTACCAGCTACAGGATCCTC -3'

Posted On

2018-09-12