Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Pcnx3'

366539

Institutional Source

Beutler Lab

Gene Symbol

Pcnx3

Ensembl Gene

ENSMUSG00000054874

Gene Name

pecanex homolog 3

Synonyms

Pcnxl3

MMRRC Submission

042415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4781 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

5664635-5688908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5687130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 144 (N144Y)

Ref Sequence

ENSEMBL: ENSMUSP00000109245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004156] [ENSMUST00000068169] [ENSMUST00000113615] [ENSMUST00000141577]

AlphaFold

Q8VI59

Predicted Effect

probably benign
Transcript: ENSMUST00000004156

SMART Domains

Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054

Domain	Start	End	E-Value	Type
low complexity region	11	36	N/A	INTRINSIC
SH3	45	105	6.79e-19	SMART
TyrKc	118	377	6.83e-81	SMART
coiled coil region	398	444	N/A	INTRINSIC
low complexity region	467	476	N/A	INTRINSIC
low complexity region	593	610	N/A	INTRINSIC
low complexity region	614	632	N/A	INTRINSIC
low complexity region	676	697	N/A	INTRINSIC
low complexity region	759	778	N/A	INTRINSIC
low complexity region	786	805	N/A	INTRINSIC
low complexity region	809	820	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000068169
AA Change: N144Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: N144Y

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 damaging
Transcript: ENSMUST00000113615
AA Change: N144Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: N144Y

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

noncoding transcript
Transcript: ENSMUST00000135119

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 benign
Transcript: ENSMUST00000145270

SMART Domains

Protein: ENSMUSP00000116493
Gene: ENSMUSG00000054874

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,571,651	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,760,724	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,046,495	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,508,175	K197*	probably null	Het
Ankrd65	C	T	4: 155,793,036	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,943,856	L636Q	probably damaging	Het
BC147527	A	C	13: 120,308,162	K6T	possibly damaging	Het
Camk1g	G	T	1: 193,356,344	T90N	probably benign	Het
Cd177	C	A	7: 24,750,626	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,412,201	D730V	possibly damaging	Het
Crtap	T	C	9: 114,386,236	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,819,093	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,456,112	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,425,208	F3675L	probably benign	Het
Dram2	T	A	3: 106,571,676	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057	P297L	probably benign	Het
Eif3i	T	C	4: 129,595,273	S83G	probably benign	Het
Gabra1	G	A	11: 42,133,661	P396S	probably damaging	Het
Gipr	T	A	7: 19,157,375	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm6981	T	C	9: 52,002,756		noncoding transcript	Het
Grin2d	T	C	7: 45,862,481	D180G	probably damaging	Het
Hectd4	T	G	5: 121,306,107		probably null	Het
Hhat	T	C	1: 192,686,979		probably benign	Het
Hoxa6	A	G	6: 52,206,420	L215P	possibly damaging	Het
Hsf4	G	A	8: 105,274,752		probably null	Het
Igf1r	G	A	7: 68,165,199	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,564,856	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,478,005	T43I	probably benign	Het
Kmt2c	T	A	5: 25,443,825	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,687,377		probably benign	Het
Mdga2	A	G	12: 66,797,622		probably null	Het
Mefv	G	A	16: 3,715,334	P358S	probably benign	Het
Mrgpra9	A	G	7: 47,235,047	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,488,435	L673P	probably benign	Het
Muc19	T	C	15: 91,903,166		noncoding transcript	Het
Myo5b	A	T	18: 74,744,681	T1584S	possibly damaging	Het
Olfr1375	A	T	11: 51,048,480	R124S	probably damaging	Het
Olfr1427	T	C	19: 12,099,367	T91A	probably benign	Het
Palld	G	T	8: 61,877,028	R272S	probably benign	Het
Prf1	A	G	10: 61,300,424	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,291,709	A400V	probably benign	Het
Rnf150	A	G	8: 82,864,152	Y48C	probably damaging	Het
Rpl11	G	T	4: 136,050,288	Q170K	probably benign	Het
Scin	G	A	12: 40,081,764	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,703,760	A524S	possibly damaging	Het
Sim1	T	C	10: 50,983,785	L581S	probably benign	Het
Skor1	T	C	9: 63,144,459	T715A	probably benign	Het
Slc22a26	A	G	19: 7,790,135	V301A	probably benign	Het
Sorcs1	T	C	19: 50,182,681	Y923C	probably damaging	Het
Src	T	A	2: 157,467,485	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,757,425		probably benign	Het
Stard3	G	A	11: 98,372,334	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,218,415	K20R	possibly damaging	Het
Tfip11	G	A	5: 112,333,399	E414K	probably damaging	Het
Tinag	G	T	9: 76,996,950	T397K	possibly damaging	Het
Traf7	C	G	17: 24,510,438		probably benign	Het
Trmt10b	T	A	4: 45,305,817	I164N	probably damaging	Het
Trpm1	A	G	7: 64,235,052	D827G	probably benign	Het
Ube2u	A	T	4: 100,486,658	T85S	probably benign	Het
Ulk4	T	C	9: 121,103,576	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,737,861	I832F	probably benign	Het
Yipf1	A	C	4: 107,336,158	E80D	probably benign	Het
Zfp40	T	A	17: 23,175,655	R653W	probably damaging	Het
Zxdc	A	G	6: 90,372,553	T308A	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
R3798:Pcnx3	UTSW	19	5678668	nonsense	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
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'- GGGCAGCAACTCCTGATAAG -3'
(R):5'- AGCAGTCGAAGGGAGTCTTG -3'

Sequencing Primer
(F):5'- TGACTCCGAGGAGCAGG -3'
(R):5'- CTTGAGGAGGAAGGGGTGTTAC -3'

Posted On

2015-12-29