Mutagenetix > Incidental Mutation

Incidental Mutation 'R9113:Klk1b22'

692356

Institutional Source

Beutler Lab

Gene Symbol

Klk1b22

Ensembl Gene

ENSMUSG00000060177

Gene Name

kallikrein 1-related peptidase b22

Synonyms

Klk22, Egfbp1, Egfbp-1, mGk-22

MMRRC Submission

068920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R9113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43762097-43766346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43765692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 183 (V183M)

Ref Sequence

ENSEMBL: ENSMUSP00000076733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077528]

AlphaFold

P15948

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077528
AA Change: V183M

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076733
Gene: ENSMUSG00000060177
AA Change: V183M

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	251	2.91e-94	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: This gene encodes the beta 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 preproprotein undergoes proteolytic processing to generate a functional, mature peptide. 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
Abcc9	T	A	6: 142,591,656 (GRCm39)	I791F	probably damaging	Het
Adamts15	A	G	9: 30,822,498 (GRCm39)	M389T	probably damaging	Het
Adgrb2	G	A	4: 129,910,877 (GRCm39)	V1065M	probably damaging	Het
Agbl1	C	A	7: 76,239,225 (GRCm39)	A827E	unknown	Het
Alox5ap	T	C	5: 149,216,015 (GRCm39)	F67S	probably damaging	Het
Ankrd11	T	C	8: 123,614,072 (GRCm39)	N2566S	possibly damaging	Het
Arhgap10	T	C	8: 77,985,701 (GRCm39)	D722G	probably damaging	Het
Atp5mf	A	G	5: 145,128,315 (GRCm39)	L4P	probably benign	Het
Bean1	T	C	8: 104,940,557 (GRCm39)	V130A	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdhr2	A	G	13: 54,882,700 (GRCm39)	D1222G	probably benign	Het
Chrm4	T	A	2: 91,758,075 (GRCm39)	V161E	probably benign	Het
Ckap5	T	C	2: 91,426,144 (GRCm39)	S1335P	probably damaging	Het
Col11a1	T	A	3: 113,888,192 (GRCm39)	Y267*	probably null	Het
Col14a1	T	C	15: 55,201,825 (GRCm39)	Y38H	unknown	Het
Coro2a	C	T	4: 46,563,047 (GRCm39)	G36S		Het
Ctsc	A	T	7: 87,959,104 (GRCm39)	K461N	possibly damaging	Het
Dcaf1	A	G	9: 106,712,831 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,880,713 (GRCm39)	I2628T	probably damaging	Het
Dnajb5	T	C	4: 42,953,233 (GRCm39)	I20T	probably damaging	Het
Dus2	C	T	8: 106,775,333 (GRCm39)	Q287*	probably null	Het
Fbxl17	A	G	17: 63,532,085 (GRCm39)	V586A	probably benign	Het
Glg1	A	T	8: 111,887,452 (GRCm39)		probably benign	Het
Gm4924	G	A	10: 82,214,113 (GRCm39)	C637Y	unknown	Het
Gorasp1	A	G	9: 119,757,442 (GRCm39)	F310S	probably damaging	Het
Gsta5	A	T	9: 78,212,667 (GRCm39)	I213F	probably benign	Het
Igfn1	G	A	1: 135,883,328 (GRCm39)	T2726I	probably damaging	Het
Inppl1	G	T	7: 101,475,231 (GRCm39)	P940Q	probably benign	Het
Krt12	A	G	11: 99,309,378 (GRCm39)	M294T	probably damaging	Het
Krtap6-2	GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA	GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA	16: 89,216,613 (GRCm39)		probably benign	Het
Lep	T	C	6: 29,071,093 (GRCm39)	L139P	probably damaging	Het
Ltn1	T	C	16: 87,224,532 (GRCm39)	D64G	probably damaging	Het
Lyzl1	C	T	18: 4,168,604 (GRCm39)	A28V	probably null	Het
Mcam	T	C	9: 44,051,693 (GRCm39)	V483A	probably benign	Het
Mia2	C	T	12: 59,217,053 (GRCm39)		probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Pde10a	A	G	17: 9,197,782 (GRCm39)	T742A	probably benign	Het
Rapgef4	A	G	2: 71,861,493 (GRCm39)	Y61C	probably benign	Het
Ryr2	A	T	13: 11,618,741 (GRCm39)		probably benign	Het
Setbp1	G	T	18: 78,900,948 (GRCm39)	H906Q	probably damaging	Het
Slc12a4	A	G	8: 106,670,984 (GRCm39)	V1032A	probably benign	Het
Slc6a15	T	C	10: 103,236,140 (GRCm39)	M285T	probably damaging	Het
Spata31h1	G	A	10: 82,131,352 (GRCm39)	Q553*	probably null	Het
Steap2	A	G	5: 5,727,475 (GRCm39)	Y287H	probably damaging	Het
Tas2r135	T	G	6: 42,383,315 (GRCm39)	F285V	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,618,538 (GRCm39)	T16249A	probably benign	Het
Usp8	A	G	2: 126,579,343 (GRCm39)	T299A	probably benign	Het
Vmn2r101	A	G	17: 19,811,288 (GRCm39)	I457M	possibly damaging	Het
Vps41	A	G	13: 19,023,883 (GRCm39)	E437G	probably benign	Het
Zfp638	A	T	6: 83,953,894 (GRCm39)	E1333V	probably damaging	Het

Other mutations in Klk1b22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Klk1b22	APN	7	43,765,732 (GRCm39)	missense	probably damaging	1.00
IGL02189:Klk1b22	APN	7	43,765,630 (GRCm39)	splice site	probably null
R1117:Klk1b22	UTSW	7	43,766,283 (GRCm39)	missense	probably benign	0.00
R1480:Klk1b22	UTSW	7	43,766,278 (GRCm39)	missense	possibly damaging	0.51
R1581:Klk1b22	UTSW	7	43,765,399 (GRCm39)	missense	possibly damaging	0.72
R1793:Klk1b22	UTSW	7	43,765,775 (GRCm39)	splice site	probably benign
R2935:Klk1b22	UTSW	7	43,764,146 (GRCm39)	missense	probably benign	0.22
R5806:Klk1b22	UTSW	7	43,765,301 (GRCm39)	missense	possibly damaging	0.90
R7278:Klk1b22	UTSW	7	43,764,173 (GRCm39)	missense	probably benign	0.01
R7443:Klk1b22	UTSW	7	43,765,534 (GRCm39)	missense	probably benign
R7646:Klk1b22	UTSW	7	43,765,542 (GRCm39)	splice site	probably null
R7866:Klk1b22	UTSW	7	43,762,168 (GRCm39)	missense	possibly damaging	0.76
R8499:Klk1b22	UTSW	7	43,762,144 (GRCm39)	missense	probably benign	0.42
R8829:Klk1b22	UTSW	7	43,764,277 (GRCm39)	missense	probably benign
R8832:Klk1b22	UTSW	7	43,764,277 (GRCm39)	missense	probably benign
R9756:Klk1b22	UTSW	7	43,765,254 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTGTGAAGCCCATCGACCTG -3'
(R):5'- AAAGAGCCTGCCTAGTCAGG -3'

Sequencing Primer
(F):5'- CTGGGGCAGCATTAACCAG -3'
(R):5'- CCTGCCTAGTCAGGGTGTTGAAG -3'

Posted On

2021-12-30