Mutagenetix > Incidental Mutation

Incidental Mutation 'R4998:Npepps'

389662

Institutional Source

Beutler Lab

Gene Symbol

Npepps

Ensembl Gene

ENSMUSG00000001441

Gene Name

aminopeptidase puromycin sensitive

Synonyms

Psa, MP100

MMRRC Submission

042592-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R4998 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97096668-97171464 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 97096933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001480] [ENSMUST00000167806] [ENSMUST00000172108]

AlphaFold

Q11011

Predicted Effect

probably benign
Transcript: ENSMUST00000001480

SMART Domains

Protein: ENSMUSP00000001480
Gene: ENSMUSG00000001441

Domain	Start	End	E-Value	Type
low complexity region	3	45	N/A	INTRINSIC
Pfam:Peptidase_M1	54	442	5.2e-155	PFAM
Pfam:ERAP1_C	579	892	7.9e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107608

Predicted Effect

probably benign
Transcript: ENSMUST00000165216

SMART Domains

Protein: ENSMUSP00000128169
Gene: ENSMUSG00000001441

Domain	Start	End	E-Value	Type
low complexity region	4	35	N/A	INTRINSIC
Pfam:Peptidase_M1	46	183	1.6e-28	PFAM
Pfam:Peptidase_M1	174	398	2.9e-100	PFAM
Pfam:ERAP1_C	535	848	2.9e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165489

Predicted Effect

unknown
Transcript: ENSMUST00000167806
AA Change: C672R

SMART Domains

Protein: ENSMUSP00000130445
Gene: ENSMUSG00000001441
AA Change: C672R

Domain	Start	End	E-Value	Type
low complexity region	3	45	N/A	INTRINSIC
Pfam:Peptidase_M1	54	442	3e-153	PFAM
Pfam:Peptidase_MA_2	321	465	7.4e-24	PFAM
Pfam:ERAP1_C	579	632	5.6e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171320

Predicted Effect

probably benign
Transcript: ENSMUST00000172108

SMART Domains

Protein: ENSMUSP00000127801
Gene: ENSMUSG00000001441

Domain	Start	End	E-Value	Type
low complexity region	3	45	N/A	INTRINSIC
Pfam:Peptidase_M1	54	442	6e-153	PFAM
Pfam:Peptidase_MA_2	321	465	1.2e-23	PFAM
Pfam:ERAP1_C	579	859	5.7e-55	PFAM
low complexity region	868	886	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (91/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene-trapped mutation exhibit dwarfism, increased anxiety, decreased pain sensitivity, and infertility in both sexes. Females fail to produce the corpus luteum of pregnancy, while males fail to copulate and have impaired spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,088 (GRCm39)	V135A	probably damaging	Het
Ankrd42	T	C	7: 92,273,282 (GRCm39)	N115S	possibly damaging	Het
Baz1a	T	C	12: 55,021,922 (GRCm39)	E120G	probably damaging	Het
Calcrl	A	T	2: 84,169,658 (GRCm39)	V341E	probably damaging	Het
Card6	T	C	15: 5,129,564 (GRCm39)	R611G	probably benign	Het
Cd70	A	T	17: 57,453,311 (GRCm39)	S118T	probably damaging	Het
Chil5	T	A	3: 105,927,248 (GRCm39)	I188F	probably damaging	Het
Clca4b	C	T	3: 144,621,269 (GRCm39)	V602I	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Col6a4	A	G	9: 105,867,977 (GRCm39)		probably benign	Het
Cox8b	T	C	7: 140,479,001 (GRCm39)	E38G	probably damaging	Het
Cx3cl1	C	G	8: 95,507,053 (GRCm39)	L353V	probably damaging	Het
Cyp2a4	G	T	7: 26,006,786 (GRCm39)	Q48H	probably damaging	Het
Defb8	T	C	8: 19,497,603 (GRCm39)	I3V	probably benign	Het
Dip2a	A	T	10: 76,155,390 (GRCm39)	L65*	probably null	Het
Dnaaf4	A	G	9: 72,867,960 (GRCm39)	T74A	possibly damaging	Het
Dsg2	A	T	18: 20,734,578 (GRCm39)	D852V	probably benign	Het
Edar	T	C	10: 58,441,915 (GRCm39)	R326G	probably damaging	Het
Egfr	A	G	11: 16,831,493 (GRCm39)	E554G	possibly damaging	Het
Eif2b3	A	C	4: 116,923,589 (GRCm39)	K268T	probably benign	Het
Enox1	A	T	14: 77,738,875 (GRCm39)		probably benign	Het
Enpp3	C	A	10: 24,683,436 (GRCm39)	M260I	probably benign	Het
Espn	A	T	4: 152,220,040 (GRCm39)	M361K	possibly damaging	Het
Fam107a	T	C	14: 8,299,514 (GRCm38)	N108S	possibly damaging	Het
Fbn2	A	T	18: 58,205,703 (GRCm39)	V1125D	probably damaging	Het
Fbxo30	T	A	10: 11,166,507 (GRCm39)	S410T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fcsk	G	A	8: 111,614,435 (GRCm39)	A618V	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm17416	C	A	2: 152,411,427 (GRCm39)	P57Q	probably damaging	Het
Gm27013	A	T	6: 130,653,501 (GRCm39)	C654S	probably damaging	Het
Gon4l	G	T	3: 88,807,305 (GRCm39)	E1666D	probably damaging	Het
Gypa	T	A	8: 81,222,964 (GRCm39)	S23T	unknown	Het
Gys1	C	A	7: 45,100,968 (GRCm39)		probably benign	Het
Hdac10	T	A	15: 89,008,143 (GRCm39)	Q569L	possibly damaging	Het
Icos	A	G	1: 61,032,941 (GRCm39)	T47A	possibly damaging	Het
Igfn1	T	A	1: 135,882,404 (GRCm39)	I2814F	probably damaging	Het
Kif27	A	G	13: 58,440,957 (GRCm39)	S1153P	probably damaging	Het
Lin28a	A	C	4: 133,746,028 (GRCm39)	F9V	possibly damaging	Het
Lrriq3	T	A	3: 154,893,695 (GRCm39)	N465K	probably benign	Het
Lsm14a	T	C	7: 34,074,799 (GRCm39)	E47G	probably damaging	Het
Mmel1	A	G	4: 154,969,967 (GRCm39)	K177R	probably benign	Het
Ncstn	T	A	1: 171,899,087 (GRCm39)	N348I	possibly damaging	Het
Ninl	A	G	2: 150,795,284 (GRCm39)	I619T	probably damaging	Het
Npb	T	C	11: 120,499,401 (GRCm39)	Y23H	probably damaging	Het
Or8k30	T	C	2: 86,339,699 (GRCm39)	Y299H	probably benign	Het
Otop1	G	A	5: 38,451,892 (GRCm39)		probably null	Het
Pcdha1	T	C	18: 37,065,469 (GRCm39)	L711P	probably damaging	Het
Pcyt1a	A	G	16: 32,270,660 (GRCm39)		probably benign	Het
Pdpr	G	T	8: 111,841,400 (GRCm39)	V211F	probably damaging	Het
Pip4k2b	T	C	11: 97,613,261 (GRCm39)	N245S	possibly damaging	Het
Platr26	G	A	2: 71,561,214 (GRCm39)		noncoding transcript	Het
Plek	A	G	11: 16,933,194 (GRCm39)		probably null	Het
Potefam3c	G	C	8: 69,906,010 (GRCm39)	N13K	probably benign	Het
Prdm15	A	T	16: 97,595,689 (GRCm39)	D1046E	probably damaging	Het
Prr29	T	G	11: 106,267,779 (GRCm39)	C175G	probably benign	Het
Ptpru	A	G	4: 131,504,196 (GRCm39)	V1097A	probably damaging	Het
Ramp2	T	A	11: 101,138,247 (GRCm39)		probably benign	Het
Rap1gap	A	G	4: 137,455,595 (GRCm39)	D381G	possibly damaging	Het
Rbbp6	T	A	7: 122,589,549 (GRCm39)	D412E	probably benign	Het
Rgs4	C	T	1: 169,572,802 (GRCm39)	V45I	probably benign	Het
Ryr2	C	T	13: 11,658,781 (GRCm39)	R3614Q	probably damaging	Het
Shc3	G	A	13: 51,596,856 (GRCm39)		probably null	Het
Shmt2	A	T	10: 127,354,139 (GRCm39)	C412S	probably damaging	Het
Slc25a45	A	T	19: 5,934,945 (GRCm39)	N265Y	probably damaging	Het
Slc4a10	G	C	2: 62,074,783 (GRCm39)	E316Q	probably benign	Het
Slc5a8	T	C	10: 88,743,919 (GRCm39)		probably null	Het
Snx31	A	G	15: 36,539,513 (GRCm39)	V121A	probably damaging	Het
Socs3	T	C	11: 117,858,542 (GRCm39)	E172G	probably damaging	Het
Tg	A	G	15: 66,545,899 (GRCm39)	D207G	probably damaging	Het
Them4	G	T	3: 94,237,088 (GRCm39)	V183F	probably damaging	Het
Tkt	G	A	14: 30,287,499 (GRCm39)	W136*	probably null	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tmc3	C	A	7: 83,271,529 (GRCm39)	R894S	probably benign	Het
Tmem132a	G	T	19: 10,836,305 (GRCm39)	P742T	probably benign	Het
Tmem202	A	G	9: 59,432,129 (GRCm39)	L66P	probably damaging	Het
Trbc1	G	A	6: 41,516,270 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,511 (GRCm39)	F158L	probably benign	Het
Ttc13	A	T	8: 125,406,795 (GRCm39)	N595K	probably damaging	Het
Ucp1	A	G	8: 84,024,484 (GRCm39)		probably null	Het
Zbtb4	C	T	11: 69,669,497 (GRCm39)	T740I	probably benign	Het
Zfp69	A	T	4: 120,804,522 (GRCm39)	D116E	possibly damaging	Het
Zfp879	A	G	11: 50,728,796 (GRCm39)	L66S	probably damaging	Het
Zfp955b	T	A	17: 33,524,125 (GRCm39)		probably benign	Het
Zfyve1	T	C	12: 83,594,839 (GRCm39)	I718V	possibly damaging	Het

Other mutations in Npepps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Npepps	APN	11	97,126,884 (GRCm39)	splice site	probably benign
IGL00904:Npepps	APN	11	97,149,132 (GRCm39)	missense	probably damaging	0.99
IGL00925:Npepps	APN	11	97,171,109 (GRCm39)	missense	probably damaging	0.97
IGL01074:Npepps	APN	11	97,108,637 (GRCm39)	missense	probably damaging	0.98
IGL01869:Npepps	APN	11	97,126,948 (GRCm39)	missense	probably damaging	1.00
IGL01879:Npepps	APN	11	97,149,166 (GRCm39)	missense	possibly damaging	0.66
IGL02145:Npepps	APN	11	97,109,328 (GRCm39)	splice site	probably null
IGL02493:Npepps	APN	11	97,128,985 (GRCm39)	missense	probably damaging	1.00
IGL02561:Npepps	APN	11	97,120,675 (GRCm39)	nonsense	probably null
IGL02957:Npepps	APN	11	97,133,478 (GRCm39)	missense	probably damaging	1.00
IGL03008:Npepps	APN	11	97,128,984 (GRCm39)	missense	probably damaging	1.00
disadvantaged	UTSW	11	97,149,099 (GRCm39)	critical splice donor site	probably null
put_upon	UTSW	11	97,139,026 (GRCm39)	critical splice donor site	probably null
Underprivileged	UTSW	11	97,158,470 (GRCm39)	nonsense	probably null
IGL03054:Npepps	UTSW	11	97,132,614 (GRCm39)	intron	probably benign
R0280:Npepps	UTSW	11	97,131,840 (GRCm39)	missense	possibly damaging	0.90
R0743:Npepps	UTSW	11	97,096,884 (GRCm39)	utr 3 prime	probably benign
R0838:Npepps	UTSW	11	97,158,518 (GRCm39)	splice site	probably benign
R1449:Npepps	UTSW	11	97,097,980 (GRCm39)	missense	probably benign	0.01
R1478:Npepps	UTSW	11	97,117,673 (GRCm39)	missense	probably benign	0.03
R1502:Npepps	UTSW	11	97,109,401 (GRCm39)	missense	possibly damaging	0.79
R1726:Npepps	UTSW	11	97,115,495 (GRCm39)	missense	probably damaging	1.00
R2413:Npepps	UTSW	11	97,131,792 (GRCm39)	missense	probably damaging	1.00
R3619:Npepps	UTSW	11	97,139,091 (GRCm39)	missense	possibly damaging	0.90
R4620:Npepps	UTSW	11	97,129,070 (GRCm39)	missense	probably damaging	1.00
R4782:Npepps	UTSW	11	97,117,652 (GRCm39)	missense	probably damaging	1.00
R4810:Npepps	UTSW	11	97,131,759 (GRCm39)	missense	probably damaging	1.00
R5086:Npepps	UTSW	11	97,108,625 (GRCm39)	missense	probably benign	0.01
R5289:Npepps	UTSW	11	97,131,753 (GRCm39)	critical splice donor site	probably null
R5740:Npepps	UTSW	11	97,126,894 (GRCm39)	missense	possibly damaging	0.85
R6004:Npepps	UTSW	11	97,113,950 (GRCm39)	missense	probably benign	0.03
R6181:Npepps	UTSW	11	97,132,830 (GRCm39)	missense	probably damaging	0.98
R6213:Npepps	UTSW	11	97,132,823 (GRCm39)	nonsense	probably null
R6244:Npepps	UTSW	11	97,104,616 (GRCm39)	missense	probably damaging	1.00
R6318:Npepps	UTSW	11	97,109,374 (GRCm39)	missense	probably damaging	0.98
R6478:Npepps	UTSW	11	97,149,099 (GRCm39)	critical splice donor site	probably null
R6724:Npepps	UTSW	11	97,096,828 (GRCm39)	utr 3 prime	probably benign
R6890:Npepps	UTSW	11	97,158,470 (GRCm39)	nonsense	probably null
R7035:Npepps	UTSW	11	97,113,965 (GRCm39)	missense	probably damaging	0.99
R7426:Npepps	UTSW	11	97,103,982 (GRCm39)	missense	probably benign	0.19
R7749:Npepps	UTSW	11	97,158,454 (GRCm39)	missense	probably benign
R7819:Npepps	UTSW	11	97,139,095 (GRCm39)	missense	probably damaging	1.00
R7885:Npepps	UTSW	11	97,109,474 (GRCm39)	missense	probably damaging	1.00
R8142:Npepps	UTSW	11	97,109,398 (GRCm39)	missense	probably damaging	1.00
R8176:Npepps	UTSW	11	97,126,977 (GRCm39)	missense	probably damaging	1.00
R8237:Npepps	UTSW	11	97,139,026 (GRCm39)	critical splice donor site	probably null
R8355:Npepps	UTSW	11	97,132,800 (GRCm39)	missense	probably damaging	1.00
R8360:Npepps	UTSW	11	97,120,665 (GRCm39)	missense	probably benign
R8455:Npepps	UTSW	11	97,132,800 (GRCm39)	missense	probably damaging	1.00
R8465:Npepps	UTSW	11	97,139,085 (GRCm39)	missense	probably damaging	1.00
R8508:Npepps	UTSW	11	97,135,252 (GRCm39)	critical splice donor site	probably null
R8828:Npepps	UTSW	11	97,131,823 (GRCm39)	missense	probably damaging	0.98
R9011:Npepps	UTSW	11	97,131,757 (GRCm39)	missense	probably damaging	1.00
R9210:Npepps	UTSW	11	97,129,047 (GRCm39)	missense	probably damaging	1.00
R9212:Npepps	UTSW	11	97,129,047 (GRCm39)	missense	probably damaging	1.00
R9593:Npepps	UTSW	11	97,149,179 (GRCm39)	critical splice acceptor site	probably null
R9614:Npepps	UTSW	11	97,149,177 (GRCm39)	missense	probably benign	0.02
R9772:Npepps	UTSW	11	97,113,983 (GRCm39)	missense	probably benign	0.13
X0021:Npepps	UTSW	11	97,128,946 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGAAGCAGTCTCACAATCTG -3'
(R):5'- AAGGAACCCTGACATGCATAAG -3'

Sequencing Primer
(F):5'- GGAAGCAGTCTCACAATCTGATGAC -3'
(R):5'- CCCTGACATGCATAAGAGGTG -3'

Posted On

2016-06-06