Mutagenetix > Incidental Mutation

Incidental Mutation 'R6290:Napsa'

508368

Institutional Source

Beutler Lab

Gene Symbol

Napsa

Ensembl Gene

ENSMUSG00000002204

Gene Name

napsin A aspartic peptidase

Synonyms

Kdap, napsin, NAP1, pronapsin

MMRRC Submission

044460-MU

Accession Numbers

Essential gene?

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

Stock #

R6290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44221869-44236270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44230761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 70 (N70D)

Ref Sequence

ENSEMBL: ENSMUSP00000002274 (fasta)

Gene Model

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

AlphaFold

O09043

Predicted Effect

probably benign
Transcript: ENSMUST00000002274
AA Change: N70D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: N70D

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

probably benign
Transcript: ENSMUST00000208514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209101

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	T	A	1: 173,289,681 (GRCm39)	I208N	possibly damaging	Het
Albfm1	T	C	5: 90,740,864 (GRCm39)		probably null	Het
Ank3	A	C	10: 69,827,198 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,259,036 (GRCm39)	E687G	possibly damaging	Het
Ash1l	T	A	3: 88,890,068 (GRCm39)	L649*	probably null	Het
Atp7b	C	T	8: 22,510,836 (GRCm39)	G437S	probably damaging	Het
Cep89	G	A	7: 35,119,688 (GRCm39)	G349D	probably damaging	Het
Cntn6	T	A	6: 104,744,851 (GRCm39)	Y315N	probably damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Csrp2	T	C	10: 110,767,844 (GRCm39)	C10R	probably damaging	Het
Cux1	T	C	5: 136,340,412 (GRCm39)	N625D	probably damaging	Het
Dnah9	T	C	11: 65,732,201 (GRCm39)	N4235S	probably damaging	Het
Dpy19l1	A	G	9: 24,373,896 (GRCm39)	C265R	probably damaging	Het
Dse	A	G	10: 34,028,336 (GRCm39)	M918T	probably benign	Het
Duox1	C	A	2: 122,164,288 (GRCm39)	T916N	possibly damaging	Het
E130308A19Rik	A	T	4: 59,691,332 (GRCm39)	I389F	probably benign	Het
Eif2ak1	T	A	5: 143,821,617 (GRCm39)	V311D	probably benign	Het
Eps15	T	A	4: 109,220,395 (GRCm39)	M534K	probably benign	Het
Gpr182	A	T	10: 127,586,893 (GRCm39)	F19L	probably benign	Het
Ifi214	T	A	1: 173,356,983 (GRCm39)	D40V	probably damaging	Het
Klhl2	A	G	8: 65,264,351 (GRCm39)	V121A	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Mylk	T	A	16: 34,715,213 (GRCm39)	S514T	probably benign	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naga	T	G	15: 82,219,057 (GRCm39)	D230A	possibly damaging	Het
Nup210l	T	A	3: 90,027,216 (GRCm39)	Y199*	probably null	Het
Olfml2b	A	T	1: 170,477,359 (GRCm39)	K165*	probably null	Het
Or1j20	C	T	2: 36,760,448 (GRCm39)	P290L	probably damaging	Het
Paxip1	A	T	5: 27,970,576 (GRCm39)		probably null	Het
Pcyox1	T	A	6: 86,365,881 (GRCm39)	K444N	probably benign	Het
Pikfyve	T	A	1: 65,242,084 (GRCm39)		probably null	Het
Ppp6r3	T	C	19: 3,544,011 (GRCm39)	I335V	probably benign	Het
Prkcz	A	G	4: 155,440,956 (GRCm39)	S71P	probably damaging	Het
Psg19	C	T	7: 18,528,014 (GRCm39)	R243Q	probably benign	Het
Ptbp2	A	T	3: 119,517,769 (GRCm39)	M382K	possibly damaging	Het
Slc16a14	T	A	1: 84,885,106 (GRCm39)	I478L	probably benign	Het
Slc45a1	A	T	4: 150,727,096 (GRCm39)	N174K	probably damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Smpdl3b	T	A	4: 132,465,586 (GRCm39)	H278L	possibly damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Synpo2	A	T	3: 122,910,701 (GRCm39)	S315T	probably damaging	Het
Taok3	A	G	5: 117,342,433 (GRCm39)	Y137C	probably damaging	Het
Tapbpl	T	C	6: 125,207,679 (GRCm39)	D49G	probably benign	Het
Tbr1	T	C	2: 61,635,394 (GRCm39)	S115P	probably benign	Het
Trim67	C	T	8: 125,549,918 (GRCm39)	T516I	probably benign	Het
Trrap	T	A	5: 144,741,828 (GRCm39)	L1351Q	probably damaging	Het
Tsc2	A	G	17: 24,815,884 (GRCm39)	I166T	probably benign	Het
Tspan8	T	A	10: 115,663,729 (GRCm39)	C22S	probably damaging	Het
Tyro3	T	C	2: 119,647,321 (GRCm39)	S813P	probably benign	Het
U2af2	G	T	7: 5,078,683 (GRCm39)	V421L	probably benign	Het
Vmn1r77	T	C	7: 11,775,736 (GRCm39)	S103P	probably damaging	Het
Vmn2r1	T	A	3: 64,012,873 (GRCm39)	D911E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r56	A	T	7: 12,428,809 (GRCm39)	C486S	probably damaging	Het
Vwa8	A	G	14: 79,331,772 (GRCm39)		probably null	Het
Xirp1	T	G	9: 119,847,791 (GRCm39)	E364A	probably benign	Het
Zbp1	T	C	2: 173,057,634 (GRCm39)	E99G	probably damaging	Het
Zfp385b	C	A	2: 77,280,612 (GRCm39)	V109F	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
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

Predicted Primers

PCR Primer
(F):5'- CCGAATGCATTGGTTTGTCACTG -3'
(R):5'- CAGGGAAACTCACAGCATGC -3'

Sequencing Primer
(F):5'- GGTTTGTCACTGTTCAAATTGTCTC -3'
(R):5'- ATGACATCTCGTGGACGGAACC -3'

Posted On

2018-03-15