Mutagenetix > Incidental Mutation

Incidental Mutation 'R0783:Pcnx4'

76730

Institutional Source

Beutler Lab

Gene Symbol

Pcnx4

Ensembl Gene

ENSMUSG00000034501

Gene Name

pecanex homolog 4

Synonyms

1810048J11Rik, Pcnxl4

MMRRC Submission

038963-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R0783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72536383-72580119 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72575478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1074 (W1074R)

Ref Sequence

ENSEMBL: ENSMUSP00000038916 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044352
AA Change: W1074R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: W1074R

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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,294,157	G1277R	probably damaging	Het
Abi3bp	A	G	16: 56,595,238		probably null	Het
Acsm2	G	A	7: 119,573,117	G61D	probably damaging	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Bbs9	T	C	9: 22,567,714	L151S	possibly damaging	Het
Camk2g	T	A	14: 20,744,636	T173S	possibly damaging	Het
Eif3b	T	C	5: 140,419,837		probably benign	Het
Eif3i	A	C	4: 129,592,076	F319V	possibly damaging	Het
Eprs	T	C	1: 185,398,458	L672P	probably damaging	Het
Fras1	C	T	5: 96,768,430	A3441V	probably damaging	Het
Gigyf2	T	A	1: 87,407,161	M79K	probably damaging	Het
Grrp1	G	A	4: 134,252,057	R37C	probably damaging	Het
Hdac1	T	C	4: 129,518,109	N331S	probably benign	Het
Hmcn1	C	T	1: 150,650,073	G3300S	probably damaging	Het
Iars2	T	C	1: 185,320,874	E400G	probably damaging	Het
Irx2	T	C	13: 72,632,650		probably null	Het
Itih4	G	A	14: 30,895,423	E567K	possibly damaging	Het
Klhl5	T	A	5: 65,156,253		probably benign	Het
Klk8	G	A	7: 43,802,197	G204E	probably damaging	Het
Loxhd1	T	C	18: 77,429,984	F1843L	possibly damaging	Het
Mllt6	T	C	11: 97,665,745	V87A	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nhlrc3	A	T	3: 53,462,449	S34T	probably benign	Het
Olfr1099	A	G	2: 86,958,562	C299R	probably benign	Het
Olfr1224-ps1	A	T	2: 89,156,891	C95S	probably benign	Het
Olfr1494	T	C	19: 13,749,676	L190P	probably damaging	Het
Olfr193	A	T	16: 59,110,169	L147*	probably null	Het
Olfr549	A	G	7: 102,554,439	I52V	probably benign	Het
Olfr593	T	C	7: 103,212,670	F259S	probably damaging	Het
Pcsk9	T	C	4: 106,450,117	T310A	probably benign	Het
Pfas	A	G	11: 69,000,521	L250P	probably damaging	Het
Plk5	T	A	10: 80,361,130	D352E	probably benign	Het
Ryr3	A	G	2: 112,756,327		probably benign	Het
Serinc3	A	G	2: 163,637,003	I68T	possibly damaging	Het
Sez6l2	A	G	7: 126,967,145	T810A	possibly damaging	Het
Tmprss7	G	A	16: 45,667,606	Q487*	probably null	Het
Tnf	A	G	17: 35,201,674	I56T	probably damaging	Het
Ttbk2	A	T	2: 120,739,977	S1163T	possibly damaging	Het
Ttn	G	A	2: 76,743,530	T23927I	probably damaging	Het
Urb1	G	A	16: 90,810,297	A15V	possibly damaging	Het
Zfp128	C	T	7: 12,890,272	P189L	probably damaging	Het
Zfr	T	C	15: 12,162,182	V806A	probably damaging	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
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
R8399:Pcnx4	UTSW	12	72574211	missense	probably benign	0.39
R8545:Pcnx4	UTSW	12	72556082	missense	probably benign	0.00
R9018:Pcnx4	UTSW	12	72556663	missense	probably damaging	1.00
R9145:Pcnx4	UTSW	12	72556269	missense	probably damaging	1.00
R9149:Pcnx4	UTSW	12	72566897	missense	probably benign
R9233:Pcnx4	UTSW	12	72556813	missense	possibly damaging	0.95
R9378:Pcnx4	UTSW	12	72555890	missense	probably damaging	1.00
R9503:Pcnx4	UTSW	12	72541787	missense	probably damaging	1.00
R9619:Pcnx4	UTSW	12	72575508	missense	possibly damaging	0.81
R9670:Pcnx4	UTSW	12	72567018	missense	probably benign	0.00
R9719:Pcnx4	UTSW	12	72556265	missense	probably damaging	1.00
R9722:Pcnx4	UTSW	12	72556265	missense	probably damaging	1.00
R9723:Pcnx4	UTSW	12	72556265	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTTGAGACATGATCCCAGACC -3'
(R):5'- TCACCTGGCAGAAGGAAATGGACC -3'

Sequencing Primer
(F):5'- gtcaccttgccttcgcc -3'
(R):5'- GGACCACTATTTCAAGTTACACTAC -3'

Posted On

2013-10-16