Mutagenetix > Incidental Mutations

Incidental Mutation 'R8399:Pcnx4'

647781

Institutional Source

Beutler Lab

Gene Symbol

Pcnx4

Ensembl Gene

ENSMUSG00000034501

Gene Name

pecanex homolog 4

Synonyms

1810048J11Rik, Pcnxl4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72536383-72580119 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72574211 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 935 (M935K)

Ref Sequence

ENSEMBL: ENSMUSP00000038916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044352]

Predicted Effect

probably benign
Transcript: ENSMUST00000044352
AA Change: M935K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: M935K

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	247	264	N/A	INTRINSIC
transmembrane domain	296	330	N/A	INTRINSIC
transmembrane domain	368	390	N/A	INTRINSIC
transmembrane domain	400	417	N/A	INTRINSIC
transmembrane domain	454	476	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
transmembrane domain	546	564	N/A	INTRINSIC
transmembrane domain	577	599	N/A	INTRINSIC
low complexity region	657	670	N/A	INTRINSIC
low complexity region	801	813	N/A	INTRINSIC
Pfam:Pecanex_C	999	1174	4.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000222413

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,489,170	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,268,998	T35N	probably benign	Het
Bcl6	T	C	16: 23,972,948	M219V	probably benign	Het
Bco2	T	A	9: 50,541,118	T217S	probably benign	Het
C1s1	C	T	6: 124,535,293	V277I	probably benign	Het
Ccdc162	T	A	10: 41,539,521	R2149W	probably damaging	Het
Cers6	T	C	2: 68,861,771	F46L	probably benign	Het
Chpf	T	C	1: 75,476,220	I359V	probably benign	Het
Chrnb4	A	C	9: 55,043,823	L52R	probably benign	Het
Cox6a1	T	C	5: 115,345,899	T95A	probably damaging	Het
Def8	T	A	8: 123,455,499	Y197*	probably null	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dnaaf3	C	T	7: 4,523,937		probably null	Het
Dnm1l	T	A	16: 16,321,672	H484L	probably damaging	Het
Eml1	G	A	12: 108,538,131	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Hck	A	C	2: 153,138,317	K355N	probably damaging	Het
Hexim2	G	T	11: 103,138,503	R127L	probably damaging	Het
Hivep2	T	C	10: 14,132,434	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,443,375	G305E	probably damaging	Het
Ifi207	G	A	1: 173,730,278	S298L	unknown	Het
Ighv1-11	A	G	12: 114,612,427	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,896,912	T12I	unknown	Het
Kctd14	T	C	7: 97,457,604	L22P	probably damaging	Het
Klra17	T	C	6: 129,874,937		probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Maf	T	A	8: 115,706,512	I118F	unknown	Het
Mppe1	T	C	18: 67,225,875	T341A	probably benign	Het
Mtmr2	T	A	9: 13,792,067	V186E	probably benign	Het
Nedd9	G	T	13: 41,318,474	Y176*	probably null	Het
Olfr1145	A	C	2: 87,810,224	M135L	probably damaging	Het
Olfr1238	T	C	2: 89,406,684	T132A	probably benign	Het
Omd	A	G	13: 49,589,869	I132V	possibly damaging	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Plcg2	T	C	8: 117,596,362	Y719H	probably damaging	Het
Plk4	C	T	3: 40,808,830	R479*	probably null	Het
Pms1	T	A	1: 53,267,932		probably null	Het
Raph1	C	T	1: 60,489,318	S928N	unknown	Het
Rtp4	G	T	16: 23,520,414		probably benign	Het
Skor1	C	T	9: 63,145,158	V510I	possibly damaging	Het
Smg1	T	C	7: 118,190,571	T699A	unknown	Het
Tcp11l1	T	C	2: 104,685,375	D381G	probably benign	Het
Tnik	T	A	3: 28,494,010	M56K	unknown	Het
Trappc9	G	A	15: 73,052,282	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,749	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,707	C104*	probably null	Het
Vmn2r35	A	C	7: 7,816,898	S124R	probably benign	Het
Wdr62	T	C	7: 30,258,061	E547G	probably damaging	Het
Zfp68	A	T	5: 138,607,820	D80E	probably benign	Het

Other mutations in Pcnx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Pcnx4	APN	12	72579365	missense	probably damaging	0.97
IGL01160:Pcnx4	APN	12	72579377	missense	probably damaging	1.00
IGL01385:Pcnx4	APN	12	72573746	missense	probably damaging	1.00
IGL01452:Pcnx4	APN	12	72574400	missense	possibly damaging	0.79
IGL01984:Pcnx4	APN	12	72574409	missense	probably benign	0.25
IGL02073:Pcnx4	APN	12	72574328	missense	possibly damaging	0.92
IGL02726:Pcnx4	APN	12	72574212	missense	probably benign	0.12
IGL02824:Pcnx4	APN	12	72555571	missense	probably benign	0.02
R0007:Pcnx4	UTSW	12	72555579	missense	possibly damaging	0.79
R0158:Pcnx4	UTSW	12	72556302	missense	probably benign
R0575:Pcnx4	UTSW	12	72567236	missense	probably benign	0.00
R0783:Pcnx4	UTSW	12	72575478	missense	probably damaging	1.00
R1420:Pcnx4	UTSW	12	72555986	missense	probably benign
R1497:Pcnx4	UTSW	12	72574400	missense	probably benign	0.03
R2093:Pcnx4	UTSW	12	72579442	missense	probably damaging	1.00
R2241:Pcnx4	UTSW	12	72574154	missense	probably damaging	0.99
R2287:Pcnx4	UTSW	12	72575398	missense	probably benign	0.05
R2418:Pcnx4	UTSW	12	72556263	missense	probably damaging	1.00
R2437:Pcnx4	UTSW	12	72541813	missense	probably damaging	1.00
R2509:Pcnx4	UTSW	12	72566972	missense	probably damaging	1.00
R2510:Pcnx4	UTSW	12	72566972	missense	probably damaging	1.00
R2512:Pcnx4	UTSW	12	72556799	critical splice acceptor site	probably null
R3691:Pcnx4	UTSW	12	72573719	missense	probably damaging	1.00
R3760:Pcnx4	UTSW	12	72567006	missense	probably damaging	1.00
R3949:Pcnx4	UTSW	12	72556302	missense	probably benign
R4065:Pcnx4	UTSW	12	72556360	critical splice donor site	probably null
R4757:Pcnx4	UTSW	12	72556293	missense	probably benign	0.00
R4804:Pcnx4	UTSW	12	72574202	missense	probably benign	0.28
R4867:Pcnx4	UTSW	12	72573952	missense	probably benign	0.01
R4879:Pcnx4	UTSW	12	72567185	missense	probably damaging	1.00
R5108:Pcnx4	UTSW	12	72574081	missense	probably benign	0.01
R5350:Pcnx4	UTSW	12	72579364	missense	probably damaging	1.00
R5504:Pcnx4	UTSW	12	72574448	missense	probably damaging	1.00
R5718:Pcnx4	UTSW	12	72567194	missense	possibly damaging	0.49
R5943:Pcnx4	UTSW	12	72579458	missense	probably damaging	0.99
R6195:Pcnx4	UTSW	12	72556874	missense	possibly damaging	0.92
R7134:Pcnx4	UTSW	12	72566976	missense	probably damaging	0.96
R7695:Pcnx4	UTSW	12	72541576	missense	probably benign	0.00
R7837:Pcnx4	UTSW	12	72556118	missense	probably damaging	1.00
R7850:Pcnx4	UTSW	12	72556068	missense	probably benign
R8153:Pcnx4	UTSW	12	72556243	missense	probably benign	0.00
R8174:Pcnx4	UTSW	12	72556913	missense	probably damaging	1.00
R8322:Pcnx4	UTSW	12	72556663	missense	probably damaging	1.00
R8340:Pcnx4	UTSW	12	72567077	missense	probably damaging	1.00
R8545:Pcnx4	UTSW	12	72556082	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACCATTCTGCAGGCACAG -3'
(R):5'- TCTTACTAGCTGACCAGGGC -3'

Sequencing Primer
(F):5'- GGTCCCAAAAATGATCTTTACAGGAC -3'
(R):5'- AGGGCTAGGCACTCCATTGTC -3'

Posted On

2020-09-02