Mutagenetix > Incidental Mutation

Incidental Mutation 'R9367:Penk'

709035

Institutional Source

Beutler Lab

Gene Symbol

Penk

Ensembl Gene

ENSMUSG00000045573

Gene Name

preproenkephalin

Synonyms

Penk1, PPA, ENK, Penk

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4133536-4138815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4134097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 183 (M183I)

Ref Sequence

ENSEMBL: ENSMUSP00000066822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070375] [ENSMUST00000133567]

AlphaFold

P22005

Predicted Effect

probably benign
Transcript: ENSMUST00000070375
AA Change: M183I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066822
Gene: ENSMUSG00000045573
AA Change: M183I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Opiods_neuropep	25	70	1.5e-19	PFAM
internal_repeat_1	90	141	4.19e-10	PROSPERO
internal_repeat_1	201	267	4.19e-10	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000133567

SMART Domains

Protein: ENSMUSP00000122389
Gene: ENSMUSG00000045573

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Opiods_neuropep	25	72	3.2e-23	PFAM
Blast:CYCc	108	176	1e-16	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit nitrituria. Female homozygotes display decreased circulating triglyceride levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
4930568D16Rik	A	T	2: 35,244,939 (GRCm39)	Y138N	probably benign	Het
Abca4	T	C	3: 121,838,197 (GRCm39)	M1T	probably null	Het
Acer3	A	G	7: 97,908,621 (GRCm39)	V104A	probably damaging	Het
Agpat4	A	G	17: 12,435,597 (GRCm39)	E287G	probably benign	Het
Akip1	C	T	7: 109,308,156 (GRCm39)	A146V	unknown	Het
Ank2	T	C	3: 126,738,678 (GRCm39)	N2402S	unknown	Het
Arhgdig	A	T	17: 26,418,451 (GRCm39)	Y177*	probably null	Het
Arhgef38	T	A	3: 132,847,998 (GRCm39)	T355S	unknown	Het
Atp8a2	C	A	14: 60,249,827 (GRCm39)		probably null	Het
Atp8b4	A	G	2: 126,216,430 (GRCm39)	I672T	probably damaging	Het
Baat	T	A	4: 49,503,008 (GRCm39)	D38V	probably damaging	Het
Bcl9	T	C	3: 97,117,861 (GRCm39)	S278G	probably benign	Het
Ccdc150	C	T	1: 54,324,760 (GRCm39)	L350F	probably damaging	Het
Ceacam20	T	G	7: 19,705,533 (GRCm39)	S175A	probably damaging	Het
Chd6	A	T	2: 160,871,784 (GRCm39)	I217K	possibly damaging	Het
Cnppd1	T	C	1: 75,117,617 (GRCm39)	I35V	probably benign	Het
Col15a1	T	C	4: 47,245,603 (GRCm39)	I118T	probably damaging	Het
Csmd3	A	T	15: 47,567,564 (GRCm39)	Y1289N		Het
Dio2	T	C	12: 90,696,587 (GRCm39)	T134A	probably benign	Het
Dnaaf9	A	T	2: 130,581,380 (GRCm39)	N678K	probably benign	Het
Dnah17	A	G	11: 117,987,464 (GRCm39)	V1282A	possibly damaging	Het
Dnah17	A	G	11: 118,012,212 (GRCm39)	S517P	possibly damaging	Het
Dync2h1	C	T	9: 7,125,730 (GRCm39)		probably null	Het
Echdc2	C	A	4: 108,036,111 (GRCm39)	P274Q	probably damaging	Het
Fam117a	T	A	11: 95,271,570 (GRCm39)	C381S	probably damaging	Het
Fbxl12	A	G	9: 20,550,130 (GRCm39)	F122S	probably damaging	Het
Gen1	G	A	12: 11,291,309 (GRCm39)	Q892*	probably null	Het
Gimap4	A	G	6: 48,667,746 (GRCm39)	Y167C	probably damaging	Het
Gle1	T	A	2: 29,839,014 (GRCm39)	F476L	probably damaging	Het
Gpr135	A	T	12: 72,117,473 (GRCm39)	V98E	possibly damaging	Het
Greb1l	A	T	18: 10,522,130 (GRCm39)	H742L	probably benign	Het
Habp2	G	T	19: 56,304,781 (GRCm39)	C392F	probably damaging	Het
Hapln3	G	T	7: 78,771,455 (GRCm39)	R145S	probably damaging	Het
Ikbkb	A	G	8: 23,171,711 (GRCm39)	C179R	probably damaging	Het
Kat6a	A	T	8: 23,400,156 (GRCm39)	I306L	possibly damaging	Het
Lmo3	A	T	6: 138,342,958 (GRCm39)	Y140*	probably null	Het
Lrrc32	T	A	7: 98,148,937 (GRCm39)	N572K	probably damaging	Het
Lrrn1	T	A	6: 107,545,093 (GRCm39)	M297K	probably damaging	Het
Magi2	G	A	5: 20,766,308 (GRCm39)	V676I	probably damaging	Het
Mdga1	T	C	17: 30,051,282 (GRCm39)	*957W	probably null	Het
Mip	G	T	10: 128,063,029 (GRCm39)	G158V	probably damaging	Het
Mmp14	T	C	14: 54,677,960 (GRCm39)	I527T	probably benign	Het
Mmp27	G	A	9: 7,573,550 (GRCm39)	G188D	probably damaging	Het
Mylk4	A	T	13: 32,960,236 (GRCm39)	C17S	possibly damaging	Het
Naa50	T	G	16: 43,977,554 (GRCm39)	I94R	probably damaging	Het
Nyap1	A	T	5: 137,734,248 (GRCm39)	Y262N	probably damaging	Het
Obsl1	A	G	1: 75,466,177 (GRCm39)	V1517A	probably benign	Het
P4htm	T	A	9: 108,459,147 (GRCm39)	M262L	probably benign	Het
Pappa2	T	C	1: 158,784,542 (GRCm39)	E156G	probably benign	Het
Pcdhb15	A	T	18: 37,607,971 (GRCm39)	Y401F	possibly damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pole	T	C	5: 110,444,955 (GRCm39)	V437A	probably damaging	Het
Ppp1r7	T	C	1: 93,279,262 (GRCm39)	I114T	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Pwp2	G	A	10: 78,014,827 (GRCm39)	Q386*	probably null	Het
Rad17	A	T	13: 100,769,720 (GRCm39)	S280T	possibly damaging	Het
Rhebl1	C	T	15: 98,776,414 (GRCm39)	E128K	possibly damaging	Het
Sema3e	G	T	5: 14,291,084 (GRCm39)	V615L	probably benign	Het
Slc22a2	A	T	17: 12,824,837 (GRCm39)	Y233F	probably benign	Het
Ssu2	A	G	6: 112,357,975 (GRCm39)	S123P	probably damaging	Het
Stk10	A	G	11: 32,538,878 (GRCm39)	E239G		Het
Surf6	G	T	2: 26,782,380 (GRCm39)	Q316K	probably damaging	Het
Tcerg1	G	A	18: 42,685,573 (GRCm39)	D637N	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tnxb	C	A	17: 34,931,993 (GRCm39)	F2175L	probably damaging	Het
Trp53i11	G	C	2: 93,029,273 (GRCm39)	V91L	probably benign	Het
Tspan9	A	G	6: 127,944,102 (GRCm39)	V66A	probably damaging	Het
Usp16	C	T	16: 87,261,669 (GRCm39)	T95M	probably benign	Het
Usp9y	A	T	Y: 1,324,982 (GRCm39)	F1691Y	probably damaging	Het
Uty	A	T	Y: 1,099,584 (GRCm39)	L1204I	possibly damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vps54	T	C	11: 21,250,234 (GRCm39)	V552A	probably benign	Het
Vps8	T	C	16: 21,340,668 (GRCm39)	V804A	possibly damaging	Het
Zfp869	A	C	8: 70,161,057 (GRCm39)	L33R	probably damaging	Het

Other mutations in Penk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Penk	APN	4	4,134,347 (GRCm39)	missense	probably damaging	1.00
IGL01901:Penk	APN	4	4,134,465 (GRCm39)	missense	probably benign	0.02
IGL02634:Penk	APN	4	4,134,065 (GRCm39)	missense	possibly damaging	0.92
IGL02935:Penk	APN	4	4,133,843 (GRCm39)	missense	probably damaging	0.99
R0712:Penk	UTSW	4	4,134,257 (GRCm39)	missense	probably benign	0.35
R1126:Penk	UTSW	4	4,138,119 (GRCm39)	missense	probably benign	0.00
R1331:Penk	UTSW	4	4,134,287 (GRCm39)	missense	probably benign	0.02
R1720:Penk	UTSW	4	4,134,240 (GRCm39)	missense	probably damaging	1.00
R2181:Penk	UTSW	4	4,134,041 (GRCm39)	splice site	probably null
R3154:Penk	UTSW	4	4,134,152 (GRCm39)	missense	probably damaging	0.96
R5184:Penk	UTSW	4	4,134,296 (GRCm39)	missense	probably damaging	1.00
R5779:Penk	UTSW	4	4,134,318 (GRCm39)	missense	probably damaging	1.00
R5939:Penk	UTSW	4	4,138,010 (GRCm39)	missense	probably benign	0.01
R7860:Penk	UTSW	4	4,133,976 (GRCm39)	missense	possibly damaging	0.48
Z1176:Penk	UTSW	4	4,138,106 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTCTTCATCGGAGGGCAGAG -3'
(R):5'- GGACGAGCTATATCCCATGGAG -3'

Sequencing Primer
(F):5'- GCAGAGACTCAGCAAAGCGC -3'
(R):5'- GCTATATCCCATGGAGCCAGAAG -3'

Posted On

2022-04-18