Mutagenetix > Incidental Mutation

Incidental Mutation 'R8816:Klk1b3'

672736

Institutional Source

Beutler Lab

Gene Symbol

Klk1b3

Ensembl Gene

ENSMUSG00000066515

Gene Name

kallikrein 1-related peptidase b3

Synonyms

Ngfg, mGk-3, Ngfg

MMRRC Submission

068726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43847615-43851775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43851668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 242 (V242A)

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

possibly damaging
Transcript: ENSMUST00000085450
AA Change: V242A

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082577
Gene: ENSMUSG00000066515
AA Change: V242A

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: 99.7%
20x: 99.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,127,513 (GRCm39)	H348L	probably benign	Het
Alpk1	A	T	3: 127,478,024 (GRCm39)	Y74*	probably null	Het
Ass1	T	C	2: 31,383,189 (GRCm39)		probably benign	Het
Atp8b4	C	T	2: 126,214,084 (GRCm39)		probably benign	Het
Atrn	C	A	2: 130,748,798 (GRCm39)	N106K	probably damaging	Het
Atrn	T	C	2: 130,846,494 (GRCm39)	V1256A	probably damaging	Het
Bicdl1	T	A	5: 115,862,804 (GRCm39)	Q150H	probably damaging	Het
Bltp3b	T	C	10: 89,626,597 (GRCm39)		probably benign	Het
Cdhr4	T	C	9: 107,872,791 (GRCm39)	V280A	possibly damaging	Het
Cfap54	C	T	10: 92,714,454 (GRCm39)	V2642I	unknown	Het
Chd2	T	C	7: 73,140,245 (GRCm39)	H661R	probably damaging	Het
Cntnap2	A	G	6: 46,833,076 (GRCm39)	D763G	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,093 (GRCm39)	C160R	probably damaging	Het
Cyb5r4	T	C	9: 86,904,286 (GRCm39)	S19P	probably benign	Het
Cyp4a30b	G	A	4: 115,309,834 (GRCm39)	V12M	probably benign	Het
Dpp6	C	T	5: 27,930,711 (GRCm39)	P848S	probably benign	Het
Dzip1	T	C	14: 119,159,785 (GRCm39)	Y141C	probably benign	Het
Eif2b3	C	A	4: 116,928,052 (GRCm39)	Q424K	probably benign	Het
Fbxw14	G	A	9: 109,105,305 (GRCm39)	R287*	probably null	Het
Fcgbp	T	G	7: 27,784,412 (GRCm39)	S157R	probably benign	Het
Fmnl2	T	G	2: 53,004,214 (GRCm39)	V642G	unknown	Het
Gpr119	C	T	X: 47,762,276 (GRCm39)	R287Q	possibly damaging	Het
Grm7	C	T	6: 111,230,966 (GRCm39)	T463I	possibly damaging	Het
Haus4	G	A	14: 54,779,710 (GRCm39)	R305C	probably benign	Het
Htr1f	A	G	16: 64,746,537 (GRCm39)	S252P	probably benign	Het
Ino80b	T	C	6: 83,098,861 (GRCm39)	Q359R	probably damaging	Het
Itgad	C	A	7: 127,797,542 (GRCm39)	Y924*	probably null	Het
Itpr2	A	G	6: 146,142,710 (GRCm39)	Y1703H	probably damaging	Het
Kif5c	T	A	2: 49,584,799 (GRCm39)	V174E	probably damaging	Het
Kifc2	A	G	15: 76,548,371 (GRCm39)	E405G	probably damaging	Het
Kndc1	T	C	7: 139,517,909 (GRCm39)	F1615S	probably damaging	Het
Lmtk2	T	A	5: 144,112,793 (GRCm39)	L1171*	probably null	Het
Myh10	A	G	11: 68,693,778 (GRCm39)	E1530G	probably damaging	Het
Nav3	T	A	10: 109,699,721 (GRCm39)	S258C	possibly damaging	Het
Nudcd3	C	T	11: 6,100,587 (GRCm39)	G186S	probably damaging	Het
Or9s15	T	A	1: 92,524,768 (GRCm39)	C176S	probably damaging	Het
Otog	C	T	7: 45,950,905 (GRCm39)	S374F	possibly damaging	Het
P2ry2	T	A	7: 100,647,763 (GRCm39)	I181F	possibly damaging	Het
Pde11a	T	C	2: 76,121,577 (GRCm39)	I335V	probably benign	Het
Phyhip	A	C	14: 70,704,375 (GRCm39)	D198A	probably damaging	Het
Pik3r5	A	T	11: 68,385,060 (GRCm39)	Y655F	probably damaging	Het
Rab6a	T	C	7: 100,279,145 (GRCm39)	I95T	possibly damaging	Het
Sgsm1	T	C	5: 113,435,097 (GRCm39)	E99G	probably damaging	Het
Skint10	A	T	4: 112,603,892 (GRCm39)	F98L	probably benign	Het
Slc35c2	A	G	2: 165,119,378 (GRCm39)	S321P	probably benign	Het
Smyd1	T	A	6: 71,192,868 (GRCm39)	E447V	probably damaging	Het
Smyd4	T	C	11: 75,281,232 (GRCm39)	V235A	probably benign	Het
Sod2	A	G	17: 13,227,253 (GRCm39)	Y69C	probably benign	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tfap2b	A	G	1: 19,284,337 (GRCm39)	S82G	probably benign	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Tln2	A	G	9: 67,128,799 (GRCm39)	I1430T	probably damaging	Het
Trio	G	T	15: 27,741,357 (GRCm39)	N2680K	probably damaging	Het
Trmt10c	A	T	16: 55,854,522 (GRCm39)	V371D	probably damaging	Het
Trpm3	T	C	19: 22,965,580 (GRCm39)	S1692P	probably damaging	Het
Usb1	G	T	8: 96,071,984 (GRCm39)	C228F	probably benign	Het
Veph1	G	T	3: 66,065,646 (GRCm39)	H474N	probably benign	Het
Wls	A	G	3: 159,639,928 (GRCm39)	T520A	possibly damaging	Het
Ywhae	T	C	11: 75,623,878 (GRCm39)	Y9H	probably damaging	Het
Zranb3	C	T	1: 127,964,347 (GRCm39)	V127M	possibly damaging	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
R6845:Klk1b3	UTSW	7	43,851,127 (GRCm39)	missense	probably benign	0.28
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
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'- CTCCCTTGAGAGTCAGTTTCAGG -3'
(R):5'- TTAGCCAGCAAGACCCGTAC -3'

Sequencing Primer
(F):5'- GGTTGTCAAGTAAAACCCAACTG -3'
(R):5'- GATCTACTTTGGAAGTCCTGGCC -3'

Posted On

2021-04-30