Mutagenetix > Incidental Mutation

Incidental Mutation 'R3798:Pcnx3'

272861

Institutional Source

Beutler Lab

Gene Symbol

Pcnx3

Ensembl Gene

ENSMUSG00000054874

Gene Name

pecanex homolog 3

Synonyms

Pcnxl3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3798 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5664635-5688908 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 5678668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 422 (Q422*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000113615] [ENSMUST00000141577]

AlphaFold

Q8VI59

Predicted Effect

probably null
Transcript: ENSMUST00000068169
AA Change: Q594*

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: Q594*

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	370	376	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC
transmembrane domain	411	428	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	501	523	N/A	INTRINSIC
transmembrane domain	538	560	N/A	INTRINSIC
transmembrane domain	573	592	N/A	INTRINSIC
transmembrane domain	645	667	N/A	INTRINSIC
transmembrane domain	669	691	N/A	INTRINSIC
low complexity region	1011	1025	N/A	INTRINSIC
Pfam:Pecanex_C	1159	1389	7.5e-124	PFAM
low complexity region	1462	1479	N/A	INTRINSIC
low complexity region	1481	1510	N/A	INTRINSIC
low complexity region	1525	1538	N/A	INTRINSIC
low complexity region	1558	1569	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113615
AA Change: Q1002*

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: Q1002*

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	438	459	N/A	INTRINSIC
low complexity region	778	784	N/A	INTRINSIC
transmembrane domain	793	815	N/A	INTRINSIC
transmembrane domain	819	836	N/A	INTRINSIC
transmembrane domain	849	871	N/A	INTRINSIC
transmembrane domain	881	900	N/A	INTRINSIC
transmembrane domain	909	931	N/A	INTRINSIC
transmembrane domain	946	968	N/A	INTRINSIC
transmembrane domain	981	1000	N/A	INTRINSIC
transmembrane domain	1053	1075	N/A	INTRINSIC
transmembrane domain	1077	1099	N/A	INTRINSIC
low complexity region	1419	1433	N/A	INTRINSIC
Pfam:Pecanex_C	1570	1796	5.9e-116	PFAM
low complexity region	1870	1887	N/A	INTRINSIC
low complexity region	1889	1918	N/A	INTRINSIC
low complexity region	1933	1946	N/A	INTRINSIC
low complexity region	1966	1977	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127876

SMART Domains

Protein: ENSMUSP00000123696
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
low complexity region	69	75	N/A	INTRINSIC
transmembrane domain	84	106	N/A	INTRINSIC
transmembrane domain	110	127	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	172	191	N/A	INTRINSIC
transmembrane domain	200	222	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000137313
AA Change: Q99*

SMART Domains

Protein: ENSMUSP00000115217
Gene: ENSMUSG00000054874
AA Change: Q99*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	79	98	N/A	INTRINSIC
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141577

SMART Domains

Protein: ENSMUSP00000116451
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
low complexity region	104	110	N/A	INTRINSIC
transmembrane domain	119	141	N/A	INTRINSIC
transmembrane domain	145	162	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC
transmembrane domain	207	224	N/A	INTRINSIC
transmembrane domain	229	251	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000145270
AA Change: Q422*

SMART Domains

Protein: ENSMUSP00000116493
Gene: ENSMUSG00000054874
AA Change: Q422*

Domain	Start	End	E-Value	Type
low complexity region	199	205	N/A	INTRINSIC
transmembrane domain	214	236	N/A	INTRINSIC
transmembrane domain	240	257	N/A	INTRINSIC
transmembrane domain	270	292	N/A	INTRINSIC
transmembrane domain	302	321	N/A	INTRINSIC
transmembrane domain	330	352	N/A	INTRINSIC
transmembrane domain	367	389	N/A	INTRINSIC
transmembrane domain	402	421	N/A	INTRINSIC
transmembrane domain	474	496	N/A	INTRINSIC
transmembrane domain	498	520	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184789

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	A	7: 131,431,965	V237E	probably damaging	Het
Adgrf3	T	C	5: 30,196,823	I736V	possibly damaging	Het
Alpk3	C	A	7: 81,092,753	P773T	probably benign	Het
Basp1	C	A	15: 25,364,312		probably benign	Het
Bbs9	T	C	9: 22,638,769	S21P	probably damaging	Het
Btbd16	A	G	7: 130,777,140	N5D	probably benign	Het
Csmd2	C	T	4: 128,517,595	P2469S	probably benign	Het
Cyld	T	C	8: 88,734,930	L662P	probably damaging	Het
Eif2ak4	C	T	2: 118,474,083	R1530C	probably damaging	Het
Fam43b	G	C	4: 138,395,098	R304G	probably benign	Het
Ip6k3	T	C	17: 27,145,106	I323V	probably benign	Het
Itpr1	T	C	6: 108,381,270	L599P	probably damaging	Het
Lancl1	G	A	1: 67,034,144	T60I	probably damaging	Het
Lmf1	G	A	17: 25,654,471	V317M	probably damaging	Het
Lrrc8d	T	A	5: 105,812,489	I255N	probably benign	Het
Ndst1	A	G	18: 60,713,166	F24L	possibly damaging	Het
Notch1	A	T	2: 26,478,618	V553E	probably benign	Het
Nsd3	T	A	8: 25,698,845	W69R	probably damaging	Het
Olfr117	T	A	17: 37,660,106	I76F	probably damaging	Het
Pcm1	T	C	8: 41,258,014	I107T	possibly damaging	Het
Phrf1	C	T	7: 141,259,918	R243*	probably null	Het
Ptbp3	T	C	4: 59,546,166	I9V	probably benign	Het
Sacs	T	C	14: 61,206,121	V1872A	possibly damaging	Het
Slc35g3	A	G	11: 69,760,917	F103L	probably benign	Het
Slx4ip	T	A	2: 137,067,623	D109E	probably benign	Het
Tas2r118	T	C	6: 23,969,823	K80E	possibly damaging	Het
Ttn	T	C	2: 76,894,743		probably benign	Het
Vmn2r72	T	C	7: 85,738,077	S760G	probably benign	Het
Vmn2r79	A	G	7: 87,002,194	Y267C	possibly damaging	Het
Wdr90	T	C	17: 25,850,498	S1194G	probably benign	Het
Xdh	T	C	17: 73,907,658	E764G	probably damaging	Het

Other mutations in Pcnx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Pcnx3	APN	19	5667259	unclassified	probably benign
IGL01667:Pcnx3	APN	19	5686630	missense	probably benign	0.03
IGL01704:Pcnx3	APN	19	5667476	missense	probably damaging	1.00
IGL01752:Pcnx3	APN	19	5665337	nonsense	probably null
IGL01791:Pcnx3	APN	19	5673267	missense	probably benign	0.39
IGL01937:Pcnx3	APN	19	5677663	missense	probably benign
IGL01987:Pcnx3	APN	19	5677479	missense	probably damaging	1.00
IGL02073:Pcnx3	APN	19	5679386	missense	probably damaging	0.99
IGL02417:Pcnx3	APN	19	5686481	missense	possibly damaging	0.92
IGL03143:Pcnx3	APN	19	5685395	missense	probably damaging	1.00
buns	UTSW	19	5683340	start codon destroyed	probably null
Pastries	UTSW	19	5683339	nonsense	probably null
pie	UTSW	19	5667158	missense	possibly damaging	0.81
R7096_pcnx3_526	UTSW	19	5672615	missense	probably damaging	1.00
swirls	UTSW	19	5672515	missense	probably damaging	1.00
tip	UTSW	19	5683780	splice site	probably benign
PIT4453001:Pcnx3	UTSW	19	5672756	critical splice donor site	probably null
R0234:Pcnx3	UTSW	19	5672618	missense	probably benign	0.12
R0234:Pcnx3	UTSW	19	5672618	missense	probably benign	0.12
R0360:Pcnx3	UTSW	19	5665583	missense	probably damaging	0.98
R0687:Pcnx3	UTSW	19	5684333	missense	probably damaging	1.00
R0718:Pcnx3	UTSW	19	5677728	splice site	probably benign
R0840:Pcnx3	UTSW	19	5685701	splice site	probably null
R0907:Pcnx3	UTSW	19	5671525	missense	possibly damaging	0.95
R1251:Pcnx3	UTSW	19	5677182	missense	probably benign	0.03
R1373:Pcnx3	UTSW	19	5665516	missense	probably damaging	0.97
R1467:Pcnx3	UTSW	19	5674894	missense	possibly damaging	0.63
R1467:Pcnx3	UTSW	19	5674894	missense	possibly damaging	0.63
R1572:Pcnx3	UTSW	19	5685347	nonsense	probably null
R1602:Pcnx3	UTSW	19	5672515	missense	probably damaging	1.00
R1628:Pcnx3	UTSW	19	5686065	missense	probably damaging	0.99
R1635:Pcnx3	UTSW	19	5665745	missense	probably benign	0.00
R1670:Pcnx3	UTSW	19	5673315	missense	probably damaging	1.00
R1889:Pcnx3	UTSW	19	5672656	missense	probably damaging	1.00
R1898:Pcnx3	UTSW	19	5672587	missense	probably damaging	1.00
R2113:Pcnx3	UTSW	19	5671556	missense	possibly damaging	0.93
R2147:Pcnx3	UTSW	19	5667605	missense	probably damaging	1.00
R2358:Pcnx3	UTSW	19	5683339	nonsense	probably null
R2358:Pcnx3	UTSW	19	5683340	start codon destroyed	probably null
R2871:Pcnx3	UTSW	19	5683746	intron	probably benign
R3699:Pcnx3	UTSW	19	5672465	missense	probably damaging	1.00
R3712:Pcnx3	UTSW	19	5683339	nonsense	probably null
R3712:Pcnx3	UTSW	19	5683340	start codon destroyed	probably null
R3856:Pcnx3	UTSW	19	5678967	missense	probably benign	0.02
R3953:Pcnx3	UTSW	19	5683780	splice site	probably benign
R4613:Pcnx3	UTSW	19	5667219	missense	possibly damaging	0.51
R4781:Pcnx3	UTSW	19	5687130	missense	probably damaging	0.99
R4816:Pcnx3	UTSW	19	5687995	critical splice donor site	probably null
R5338:Pcnx3	UTSW	19	5672596	missense	probably damaging	1.00
R5770:Pcnx3	UTSW	19	5681579	intron	probably benign
R5950:Pcnx3	UTSW	19	5667158	missense	possibly damaging	0.81
R5951:Pcnx3	UTSW	19	5671680	missense	possibly damaging	0.71
R5969:Pcnx3	UTSW	19	5685535	missense	probably damaging	1.00
R6543:Pcnx3	UTSW	19	5665247	missense	probably benign	0.07
R6704:Pcnx3	UTSW	19	5686487	missense	possibly damaging	0.74
R7096:Pcnx3	UTSW	19	5672615	missense	probably damaging	1.00
R7177:Pcnx3	UTSW	19	5687499	missense	probably benign	0.01
R7308:Pcnx3	UTSW	19	5686147	missense	possibly damaging	0.52
R7387:Pcnx3	UTSW	19	5673336	missense	probably benign	0.33
R7488:Pcnx3	UTSW	19	5667459	missense	possibly damaging	0.72
R7670:Pcnx3	UTSW	19	5677182	missense	probably benign	0.03
R7831:Pcnx3	UTSW	19	5685961	missense	probably damaging	0.96
R7850:Pcnx3	UTSW	19	5678932	missense	possibly damaging	0.55
R8120:Pcnx3	UTSW	19	5667546	missense	probably benign
R8139:Pcnx3	UTSW	19	5665745	missense	probably benign	0.00
R8258:Pcnx3	UTSW	19	5665384	missense	probably damaging	1.00
R8259:Pcnx3	UTSW	19	5665384	missense	probably damaging	1.00
R8260:Pcnx3	UTSW	19	5665384	missense	probably damaging	1.00
R8261:Pcnx3	UTSW	19	5665384	missense	probably damaging	1.00
R8262:Pcnx3	UTSW	19	5665384	missense	probably damaging	1.00
R8350:Pcnx3	UTSW	19	5673226	missense	probably damaging	1.00
R8411:Pcnx3	UTSW	19	5679590	missense	possibly damaging	0.90
R8429:Pcnx3	UTSW	19	5665384	missense	probably damaging	1.00
R8431:Pcnx3	UTSW	19	5665384	missense	probably damaging	1.00
R8443:Pcnx3	UTSW	19	5686642	missense	probably benign
R8450:Pcnx3	UTSW	19	5673226	missense	probably damaging	1.00
R8494:Pcnx3	UTSW	19	5675376	missense	probably damaging	0.99
R8790:Pcnx3	UTSW	19	5685178	missense	possibly damaging	0.71
R8939:Pcnx3	UTSW	19	5680319	missense	probably damaging	0.98
R9065:Pcnx3	UTSW	19	5667554	missense	possibly damaging	0.86
R9070:Pcnx3	UTSW	19	5665573	missense	probably benign	0.33
X0028:Pcnx3	UTSW	19	5684427	missense	probably damaging	1.00
X0053:Pcnx3	UTSW	19	5686622	splice site	probably null
Z1176:Pcnx3	UTSW	19	5687220	critical splice acceptor site	probably null
Z1177:Pcnx3	UTSW	19	5671626	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTCAGAGGGTACTGTCATGTAC -3'
(R):5'- GCAGTGGCTTCTCACATACG -3'

Sequencing Primer
(F):5'- CACACTCAGAGAGTATTCTGTCATG -3'
(R):5'- AGTGGCTTCTCACATACGACATC -3'

Posted On

2015-03-25