Mutagenetix > Incidental Mutations

Incidental Mutation 'R7177:Pcnx3'

558729

Institutional Source

Beutler Lab

Gene Symbol

Pcnx3

Ensembl Gene

ENSMUSG00000054874

Gene Name

pecanex homolog 3

Synonyms

Pcnxl3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5664635-5688908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5687499 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 98 (M98K)

Ref Sequence

ENSEMBL: ENSMUSP00000109245 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000068169
AA Change: M98K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: M98K

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 benign
Transcript: ENSMUST00000113615
AA Change: M98K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: M98K

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 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	A	8: 45,970,407	E89D	possibly damaging	Het
4930550C14Rik	T	C	9: 53,414,385	L74S	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,425	S312P	probably benign	Het
5730409E04Rik	A	G	4: 126,611,732	S18G	probably benign	Het
Adam29	A	G	8: 55,872,624	I265T	probably benign	Het
Aff4	C	T	11: 53,406,639	S896L	probably benign	Het
Ankrd27	T	C	7: 35,619,397	I571T	probably damaging	Het
Bdp1	C	A	13: 100,049,970	R1658I	probably damaging	Het
Carm1	C	T	9: 21,547,027	T7M	unknown	Het
Ccdc105	T	C	10: 78,752,490	D162G	probably damaging	Het
Ccdc183	A	G	2: 25,616,284	V100A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Ceacam2	T	G	7: 25,520,916	D239A	probably benign	Het
Cmya5	T	C	13: 93,095,328	D1084G	probably benign	Het
Cog5	T	A	12: 31,760,889	I194K	probably damaging	Het
Col20a1	C	T	2: 180,994,214	Q211*	probably null	Het
Col9a1	T	A	1: 24,195,417	L13Q	unknown	Het
Cracr2a	A	T	6: 127,608,706	M156L	probably benign	Het
Cts8	C	T	13: 61,251,691	M151I	possibly damaging	Het
Cyp2ab1	A	T	16: 20,316,719	L11Q	probably null	Het
Dhrs13	T	A	11: 78,034,382	C160S	probably benign	Het
Enthd1	T	A	15: 80,474,214	E368D	probably damaging	Het
Fbxo18	A	G	2: 11,755,711	I676T	probably damaging	Het
Fcgrt	T	C	7: 45,101,997	R176G	probably benign	Het
Gatd1	A	G	7: 141,411,034	F67L	possibly damaging	Het
Gm4353	G	A	7: 116,084,492	P23S	probably damaging	Het
Gm6882	T	A	7: 21,427,752	I64F	possibly damaging	Het
Grwd1	A	T	7: 45,830,780	M1K	probably null	Het
Hook2	T	A	8: 84,991,417	S58T	probably benign	Het
Iqch	T	G	9: 63,421,835	*1072C	probably null	Het
Kmt2d	G	A	15: 98,850,386	T3019I	unknown	Het
Lmx1a	T	C	1: 167,846,678	S356P	probably benign	Het
Lrig3	A	G	10: 126,006,843	M546V	probably benign	Het
Lrrc1	C	A	9: 77,472,222	E96*	probably null	Het
Lrtm2	C	A	6: 119,317,152	M339I	probably damaging	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Map7d1	A	G	4: 126,236,985	C384R	probably damaging	Het
Mcur1	T	C	13: 43,544,536	D296G	probably damaging	Het
Mettl24	A	T	10: 40,810,512	H295L	probably damaging	Het
Mpl	A	G	4: 118,448,544		probably null	Het
Mrps5	T	C	2: 127,595,697	V148A	probably benign	Het
N4bp2	T	C	5: 65,807,548	V980A	probably damaging	Het
Ncaph	A	T	2: 127,116,586	D504E	probably damaging	Het
Nxph1	A	G	6: 9,247,497	N156S	probably damaging	Het
Odf3l1	T	A	9: 56,849,978	M139L	possibly damaging	Het
Olfr1307	T	A	2: 111,945,156	Q100L	probably damaging	Het
Olfr1395	T	A	11: 49,149,185	C309*	probably null	Het
Pafah1b3	T	A	7: 25,295,232	I186L	probably benign	Het
Papola	C	A	12: 105,809,531	N235K	possibly damaging	Het
Pkhd1l1	A	G	15: 44,467,404	N125S	probably damaging	Het
Pls1	T	A	9: 95,773,559	H380L	probably benign	Het
Plxna1	T	C	6: 89,323,329	T1591A	possibly damaging	Het
Pparg	T	G	6: 115,441,620	S147A	probably benign	Het
Prdm10	T	C	9: 31,367,707	S1025P	probably benign	Het
Prkcd	T	A	14: 30,599,707	H510L	probably damaging	Het
Ptprh	T	A	7: 4,569,481	E499D	possibly damaging	Het
Rad51ap1	A	G	6: 126,925,020	S256P	probably benign	Het
Rad54b	A	G	4: 11,599,755	T320A	probably damaging	Het
Rnf207	A	G	4: 152,312,177	I459T	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Ryr3	A	T	2: 112,900,843	D727E	probably damaging	Het
Sdk2	C	T	11: 113,829,969	R1378H	possibly damaging	Het
Slc7a11	A	G	3: 50,443,231	S11P	probably benign	Het
Sox4	A	G	13: 28,953,017	V2A	probably damaging	Het
Srf	A	G	17: 46,555,392	F146S	probably damaging	Het
Srrm2	T	C	17: 23,816,773	V797A	unknown	Het
Stk32c	T	C	7: 139,104,302	D463G	possibly damaging	Het
Syne2	C	A	12: 75,971,880	Y3384*	probably null	Het
Tmem55b	A	C	14: 50,930,177	M104R	possibly damaging	Het
Traip	T	A	9: 107,960,985	M139K	possibly damaging	Het
Trappc2l	T	A	8: 122,614,312	F100Y	probably damaging	Het
Ush1c	T	C	7: 46,229,219	D124G	probably damaging	Het
Uty	A	G	Y: 1,099,691	V1168A	probably benign	Het
Vmn2r25	T	C	6: 123,839,923	D233G	possibly damaging	Het
Zdbf2	C	T	1: 63,294,961	R31C	possibly 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
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
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
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
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'- TCAAGACTCCCTTCGACTGC -3'
(R):5'- TACAGTGGTGGCAGGTACAC -3'

Sequencing Primer
(F):5'- GACTGCTTTAACCCTGACTACAG -3'
(R):5'- TGGCAGGTACACCCTCAAG -3'

Posted On

2019-06-26