Mutagenetix > Incidental Mutation

Incidental Mutation 'R7046:Napsa'

547316

Institutional Source

Beutler Lab

Gene Symbol

Napsa

Ensembl Gene

ENSMUSG00000002204

Gene Name

napsin A aspartic peptidase

Synonyms

Kdap, napsin, NAP1, pronapsin

MMRRC Submission

045144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44221869-44236270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44234509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

Ref Sequence

ENSEMBL: ENSMUSP00000002274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000208514]

AlphaFold

O09043

Predicted Effect

probably damaging
Transcript: ENSMUST00000002274
AA Change: V247A

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

SMART Domains

Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: V247A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Asp	72	396	6.6e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208514

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,772,364 (GRCm39)	Y805C	probably damaging	Het
Aoc1l3	T	A	6: 48,964,512 (GRCm39)	D173E	probably benign	Het
Cabp7	T	A	11: 4,688,886 (GRCm39)	I195F	probably damaging	Het
Camsap1	T	C	2: 25,835,201 (GRCm39)	N317S	probably damaging	Het
Ccdc127	T	G	13: 74,500,994 (GRCm39)	L4V	probably damaging	Het
Ccdc7a	T	C	8: 129,774,100 (GRCm39)	E145G	probably damaging	Het
Cdh10	T	A	15: 19,013,287 (GRCm39)	V629D	probably damaging	Het
Cdh23	A	C	10: 60,214,530 (GRCm39)	L1497R	probably damaging	Het
Chsy3	A	G	18: 59,542,875 (GRCm39)	K671R	probably benign	Het
Clca4b	T	C	3: 144,621,367 (GRCm39)	Y569C	probably damaging	Het
Cnga1	T	C	5: 72,786,696 (GRCm39)		probably benign	Het
Cyp51	T	A	5: 4,150,188 (GRCm39)	E178D	probably damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah14	G	T	1: 181,450,568 (GRCm39)	C727F	probably benign	Het
Egf	A	T	3: 129,548,607 (GRCm39)	W3R	unknown	Het
Egfem1	G	A	3: 29,136,364 (GRCm39)		probably null	Het
Epb41l1	G	T	2: 156,368,812 (GRCm39)	V682L	possibly damaging	Het
Etv1	A	G	12: 38,834,369 (GRCm39)		probably null	Het
Faap100	A	G	11: 120,268,200 (GRCm39)	F191S	possibly damaging	Het
Fmo1	T	A	1: 162,667,263 (GRCm39)	D184V	possibly damaging	Het
Ghrl	A	G	6: 113,696,344 (GRCm39)	L16P	probably damaging	Het
Gria4	T	A	9: 4,420,278 (GRCm39)	L861F	probably damaging	Het
Gsr	T	A	8: 34,185,090 (GRCm39)	M428K	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kbtbd12	A	G	6: 88,595,497 (GRCm39)	M111T	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,623 (GRCm39)	Y6*	probably null	Het
Lin9	A	G	1: 180,494,935 (GRCm39)	D219G	probably damaging	Het
Lrrc38	A	G	4: 143,076,739 (GRCm39)	M1V	probably null	Het
Macc1	T	G	12: 119,410,773 (GRCm39)	F514V	probably benign	Het
Madcam1	C	T	10: 79,504,139 (GRCm39)	R242C	probably benign	Het
Mfhas1	T	C	8: 36,131,944 (GRCm39)	S1037P	probably benign	Het
Micall2	C	T	5: 139,694,699 (GRCm39)		probably benign	Het
Mtr	C	A	13: 12,205,095 (GRCm39)	A1122S	possibly damaging	Het
Muc6	T	A	7: 141,226,456 (GRCm39)		probably benign	Het
Myh15	T	A	16: 48,929,662 (GRCm39)	C529*	probably null	Het
Nr2c2	A	G	6: 92,135,338 (GRCm39)	T309A	probably damaging	Het
Or1e26	A	T	11: 73,480,558 (GRCm39)	I2K	probably benign	Het
Or1q1	T	A	2: 36,887,173 (GRCm39)	V117E	probably benign	Het
Or2n1b	A	T	17: 38,459,691 (GRCm39)	M71L	probably benign	Het
Osgepl1	A	T	1: 53,360,710 (GRCm39)	I384F	possibly damaging	Het
Otud4	C	T	8: 80,377,671 (GRCm39)	L111F	possibly damaging	Het
Pds5b	A	G	5: 150,673,385 (GRCm39)	Y481C	probably damaging	Het
Pdzrn4	T	A	15: 92,668,303 (GRCm39)	Y818*	probably null	Het
Pin1rt1	T	C	2: 104,544,767 (GRCm39)	S122G	probably benign	Het
Pkdcc	A	T	17: 83,531,687 (GRCm39)	Y487F	probably damaging	Het
Plxna4	C	T	6: 32,493,440 (GRCm39)	C392Y	probably damaging	Het
Psd4	T	G	2: 24,284,985 (GRCm39)	M283R	probably benign	Het
Ralgds	G	T	2: 28,430,741 (GRCm39)	G68W	probably damaging	Het
Rmdn2	T	A	17: 79,928,808 (GRCm39)	I20N	probably damaging	Het
Sestd1	A	G	2: 77,022,910 (GRCm39)	V486A	probably benign	Het
Skic8	T	A	9: 54,626,539 (GRCm39)	D275V	probably damaging	Het
Spmap2	G	T	10: 79,422,796 (GRCm39)	D35E	probably benign	Het
Tango6	A	G	8: 107,533,748 (GRCm39)	H958R	possibly damaging	Het
Taok3	C	T	5: 117,411,771 (GRCm39)	R857C	probably damaging	Het
Tasor	A	T	14: 27,194,392 (GRCm39)	L1197F	probably damaging	Het
Trio	T	C	15: 27,832,137 (GRCm39)	E1245G	probably damaging	Het
Usp19	C	T	9: 108,374,334 (GRCm39)	H763Y	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,651 (GRCm39)	S285P	probably damaging	Het
Vmn1r45	T	G	6: 89,910,538 (GRCm39)	Y144S	probably benign	Het
Vwa3b	G	A	1: 37,212,959 (GRCm39)	E152K	probably benign	Het
Xrcc5	G	A	1: 72,433,875 (GRCm39)	M731I	probably benign	Het
Zfp619	G	A	7: 39,186,787 (GRCm39)	S939N	possibly damaging	Het
Zfp874a	C	A	13: 67,590,418 (GRCm39)	C422F	probably damaging	Het
Zfp948	A	G	17: 21,808,719 (GRCm39)	D637G	possibly damaging	Het

Other mutations in Napsa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Napsa	APN	7	44,230,845 (GRCm39)	missense	probably benign	0.00
IGL01380:Napsa	APN	7	44,236,098 (GRCm39)	missense	probably damaging	0.99
IGL01521:Napsa	APN	7	44,236,061 (GRCm39)	missense	probably damaging	1.00
IGL01630:Napsa	APN	7	44,236,089 (GRCm39)	missense	probably damaging	1.00
IGL01862:Napsa	APN	7	44,231,917 (GRCm39)	missense	probably damaging	0.99
IGL01935:Napsa	APN	7	44,236,046 (GRCm39)	missense	probably benign	0.01
IGL02421:Napsa	APN	7	44,234,479 (GRCm39)	missense	probably damaging	1.00
IGL02831:Napsa	APN	7	44,236,184 (GRCm39)	missense	probably benign
IGL03008:Napsa	APN	7	44,235,220 (GRCm39)	missense	possibly damaging	0.77
PIT4131001:Napsa	UTSW	7	44,230,875 (GRCm39)	missense	probably damaging	1.00
R0422:Napsa	UTSW	7	44,234,530 (GRCm39)	missense	probably damaging	1.00
R1542:Napsa	UTSW	7	44,231,113 (GRCm39)	missense	probably damaging	1.00
R1564:Napsa	UTSW	7	44,236,073 (GRCm39)	missense	probably damaging	1.00
R1903:Napsa	UTSW	7	44,231,160 (GRCm39)	missense	probably damaging	1.00
R1964:Napsa	UTSW	7	44,231,109 (GRCm39)	missense	probably benign	0.01
R2366:Napsa	UTSW	7	44,231,909 (GRCm39)	missense	probably damaging	1.00
R3713:Napsa	UTSW	7	44,230,852 (GRCm39)	missense	probably damaging	1.00
R5441:Napsa	UTSW	7	44,230,817 (GRCm39)	unclassified	probably benign
R5512:Napsa	UTSW	7	44,222,040 (GRCm39)	start codon destroyed	probably null	0.01
R5682:Napsa	UTSW	7	44,234,768 (GRCm39)	missense	possibly damaging	0.92
R6290:Napsa	UTSW	7	44,230,761 (GRCm39)	missense	probably benign	0.00
R7134:Napsa	UTSW	7	44,235,159 (GRCm39)	missense	probably benign	0.04
R7677:Napsa	UTSW	7	44,231,130 (GRCm39)	nonsense	probably null
R7950:Napsa	UTSW	7	44,234,758 (GRCm39)	missense	probably benign	0.13
R7983:Napsa	UTSW	7	44,234,751 (GRCm39)	missense	possibly damaging	0.88
R9068:Napsa	UTSW	7	44,235,223 (GRCm39)	missense	probably damaging	1.00
R9336:Napsa	UTSW	7	44,231,769 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATCTAGAAGCCAACTGGAG -3'
(R):5'- ACTAGGTCCTGTGATGAGGG -3'

Sequencing Primer
(F):5'- ACTGGAGGAAGTCCCATCC -3'
(R):5'- TGTCTAGGATGGCACTGCAGC -3'

Posted On

2019-05-13