Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01862:Napsa'

178398

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Napsa

Ensembl Gene

ENSMUSG00000002204

Gene Name

napsin A aspartic peptidase

Synonyms

Kdap, napsin, NAP1, pronapsin

Accession Numbers

Essential gene?

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

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

44221869-44236270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44231917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 202 (V202A)

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: V202A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: V202A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207543

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208514
AA Change: V47A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209101

Coding Region Coverage

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,837,997 (GRCm39)	S1085*	probably null	Het
Akap9	T	G	5: 4,001,705 (GRCm39)	S94A	probably damaging	Het
Akap9	T	A	5: 4,115,856 (GRCm39)	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,578,182 (GRCm39)	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Cacna1h	C	T	17: 25,602,457 (GRCm39)	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,685,196 (GRCm39)	Y32C	probably damaging	Het
Cep120	A	C	18: 53,847,839 (GRCm39)	S673R	probably benign	Het
Cep162	T	C	9: 87,135,986 (GRCm39)	E19G	possibly damaging	Het
Cpxm2	C	T	7: 131,661,540 (GRCm39)	V416I	probably benign	Het
Dapk1	A	G	13: 60,874,424 (GRCm39)	T427A	probably benign	Het
Ecm1	A	T	3: 95,641,586 (GRCm39)	D549E	probably benign	Het
Efemp1	T	A	11: 28,871,428 (GRCm39)	N342K	probably damaging	Het
Erc2	T	C	14: 27,993,526 (GRCm39)		probably benign	Het
Fhip2b	C	T	14: 70,825,130 (GRCm39)	R402H	probably benign	Het
Galnt13	T	C	2: 54,747,926 (GRCm39)	V269A	probably damaging	Het
Gm6465	T	G	5: 11,899,020 (GRCm39)	L171R	probably damaging	Het
Gpatch1	A	G	7: 34,994,703 (GRCm39)	V521A	probably benign	Het
Heatr5b	A	T	17: 79,103,914 (GRCm39)	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,578,057 (GRCm39)	V484D	probably damaging	Het
Ints4	T	A	7: 97,190,360 (GRCm39)	V953E	probably damaging	Het
Iqce	T	C	5: 140,685,480 (GRCm39)	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,461,368 (GRCm39)	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,635,271 (GRCm39)	I254F	probably damaging	Het
Ly75	A	T	2: 60,129,516 (GRCm39)	V1623D	probably damaging	Het
Mapt	T	A	11: 104,180,828 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,639,875 (GRCm39)		probably null	Het
Mcc	G	T	18: 44,892,363 (GRCm39)	Q84K	probably benign	Het
Mgat4f	G	A	1: 134,318,349 (GRCm39)	V374I	probably benign	Het
Mtfr2	G	A	10: 20,224,149 (GRCm39)	V28M	probably benign	Het
Myh8	T	A	11: 67,180,520 (GRCm39)	Y585*	probably null	Het
Nsd2	A	G	5: 34,001,080 (GRCm39)	K199R	probably null	Het
Ntpcr	C	T	8: 126,462,837 (GRCm39)	A18V	probably benign	Het
Or2aj4	A	T	16: 19,385,426 (GRCm39)	M69K	probably damaging	Het
Or2g25	G	T	17: 37,970,368 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	A	7: 104,963,439 (GRCm39)	I76N	probably damaging	Het
Or5g9	G	T	2: 85,552,472 (GRCm39)	C241F	probably damaging	Het
Or8b9	A	G	9: 37,766,477 (GRCm39)	D121G	probably damaging	Het
Os9	A	G	10: 126,935,573 (GRCm39)	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,476,915 (GRCm39)	S684P	possibly damaging	Het
Phf19	A	C	2: 34,787,067 (GRCm39)		probably null	Het
Pkd1l3	G	A	8: 110,357,908 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,429,134 (GRCm39)	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,326,258 (GRCm39)	V64E	possibly damaging	Het
Psme4	T	A	11: 30,762,038 (GRCm39)	C459*	probably null	Het
Ptk6	T	C	2: 180,841,433 (GRCm39)	S159G	probably benign	Het
Rhd	T	C	4: 134,617,650 (GRCm39)	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,492,494 (GRCm39)	Y601C	probably damaging	Het
Shroom3	T	C	5: 93,110,148 (GRCm39)	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,749,630 (GRCm39)		probably null	Het
Spg7	T	A	8: 123,803,669 (GRCm39)	L233Q	probably damaging	Het
Strip1	C	A	3: 107,529,198 (GRCm39)	R353L	probably damaging	Het
Ubr1	T	C	2: 120,764,823 (GRCm39)	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,204,469 (GRCm39)	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,266,095 (GRCm39)		probably benign	Het
Vmn1r193	A	T	13: 22,403,984 (GRCm39)	C3S	probably benign	Het
Yju2b	G	T	8: 84,987,163 (GRCm39)		probably benign	Het
Zdhhc5	C	T	2: 84,520,836 (GRCm39)	R447H	probably benign	Het
Zfp202	A	G	9: 40,123,124 (GRCm39)	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441 (GRCm39)	C990S	probably 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
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
R7046:Napsa	UTSW	7	44,234,509 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07