Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01667:Pcnx3'

103332

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

5714663-5738936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5736658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 160 (R160G)

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 benign
Transcript: ENSMUST00000068169
AA Change: R160G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: R160G

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: R160G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: R160G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,219,767 (GRCm39)	T57A	probably damaging	Het
Akna	G	T	4: 63,297,396 (GRCm39)	T886N	probably benign	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
Awat2	C	T	X: 99,447,860 (GRCm39)	G124D	probably damaging	Het
Camsap1	A	G	2: 25,835,293 (GRCm39)		probably benign	Het
Catsperg2	T	C	7: 29,409,558 (GRCm39)	Y545C	probably damaging	Het
Cldn23	A	G	8: 36,293,074 (GRCm39)	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,929,819 (GRCm39)		probably benign	Het
Dlgap3	C	A	4: 127,127,690 (GRCm39)	T786K	probably benign	Het
Dnah2	A	C	11: 69,435,221 (GRCm39)	S50A	probably benign	Het
Dnah2	A	T	11: 69,411,767 (GRCm39)	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,586,451 (GRCm39)	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,592,588 (GRCm39)	P115L	probably damaging	Het
Fzd2	G	T	11: 102,496,608 (GRCm39)	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,436,062 (GRCm39)	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,068,344 (GRCm39)	I46S	probably damaging	Het
Gm5581	T	C	6: 131,144,735 (GRCm39)		noncoding transcript	Het
Krt1c	C	A	15: 101,724,765 (GRCm39)	V282L	possibly damaging	Het
Myh15	G	A	16: 49,015,942 (GRCm39)	V1873M	probably benign	Het
Myo1b	T	C	1: 51,799,536 (GRCm39)	T931A	probably damaging	Het
Myo6	A	T	9: 80,197,175 (GRCm39)	K965N	unknown	Het
Or5a3	T	C	19: 12,400,120 (GRCm39)	V149A	probably benign	Het
Slc22a16	T	C	10: 40,461,014 (GRCm39)	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,144,610 (GRCm39)	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,863,254 (GRCm39)	M1T	probably null	Het
St6gal1	A	G	16: 23,140,174 (GRCm39)	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,902,744 (GRCm39)		probably benign	Het
Tfrc	A	G	16: 32,443,261 (GRCm39)		probably benign	Het
Trip11	A	C	12: 101,845,121 (GRCm39)	F1539C	probably damaging	Het
Ttn	A	T	2: 76,611,422 (GRCm39)	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,277,225 (GRCm39)	M206L	probably benign	Het
Zfp362	A	G	4: 128,680,902 (GRCm39)	L141P	probably damaging	Het
Zfp692	A	G	11: 58,202,379 (GRCm39)	H378R	probably damaging	Het
Zfp799	T	C	17: 33,040,794 (GRCm39)	Q52R	possibly damaging	Het

Other mutations in Pcnx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Pcnx3	APN	19	5,717,287 (GRCm39)	unclassified	probably benign
IGL01704:Pcnx3	APN	19	5,717,504 (GRCm39)	missense	probably damaging	1.00
IGL01752:Pcnx3	APN	19	5,715,365 (GRCm39)	nonsense	probably null
IGL01791:Pcnx3	APN	19	5,723,295 (GRCm39)	missense	probably benign	0.39
IGL01937:Pcnx3	APN	19	5,727,691 (GRCm39)	missense	probably benign
IGL01987:Pcnx3	APN	19	5,727,507 (GRCm39)	missense	probably damaging	1.00
IGL02073:Pcnx3	APN	19	5,729,414 (GRCm39)	missense	probably damaging	0.99
IGL02417:Pcnx3	APN	19	5,736,509 (GRCm39)	missense	possibly damaging	0.92
IGL03143:Pcnx3	APN	19	5,735,423 (GRCm39)	missense	probably damaging	1.00
buns	UTSW	19	5,733,368 (GRCm39)	start codon destroyed	probably null
Pastries	UTSW	19	5,733,367 (GRCm39)	nonsense	probably null
pie	UTSW	19	5,717,186 (GRCm39)	missense	possibly damaging	0.81
R7096_pcnx3_526	UTSW	19	5,722,643 (GRCm39)	missense	probably damaging	1.00
swirls	UTSW	19	5,722,543 (GRCm39)	missense	probably damaging	1.00
tip	UTSW	19	5,733,808 (GRCm39)	splice site	probably benign
PIT4453001:Pcnx3	UTSW	19	5,722,784 (GRCm39)	critical splice donor site	probably null
R0234:Pcnx3	UTSW	19	5,722,646 (GRCm39)	missense	probably benign	0.12
R0234:Pcnx3	UTSW	19	5,722,646 (GRCm39)	missense	probably benign	0.12
R0360:Pcnx3	UTSW	19	5,715,611 (GRCm39)	missense	probably damaging	0.98
R0687:Pcnx3	UTSW	19	5,734,361 (GRCm39)	missense	probably damaging	1.00
R0718:Pcnx3	UTSW	19	5,727,756 (GRCm39)	splice site	probably benign
R0840:Pcnx3	UTSW	19	5,735,729 (GRCm39)	splice site	probably null
R0907:Pcnx3	UTSW	19	5,721,553 (GRCm39)	missense	possibly damaging	0.95
R1251:Pcnx3	UTSW	19	5,727,210 (GRCm39)	missense	probably benign	0.03
R1373:Pcnx3	UTSW	19	5,715,544 (GRCm39)	missense	probably damaging	0.97
R1467:Pcnx3	UTSW	19	5,724,922 (GRCm39)	missense	possibly damaging	0.63
R1467:Pcnx3	UTSW	19	5,724,922 (GRCm39)	missense	possibly damaging	0.63
R1572:Pcnx3	UTSW	19	5,735,375 (GRCm39)	nonsense	probably null
R1602:Pcnx3	UTSW	19	5,722,543 (GRCm39)	missense	probably damaging	1.00
R1628:Pcnx3	UTSW	19	5,736,093 (GRCm39)	missense	probably damaging	0.99
R1635:Pcnx3	UTSW	19	5,715,773 (GRCm39)	missense	probably benign	0.00
R1670:Pcnx3	UTSW	19	5,723,343 (GRCm39)	missense	probably damaging	1.00
R1889:Pcnx3	UTSW	19	5,722,684 (GRCm39)	missense	probably damaging	1.00
R1898:Pcnx3	UTSW	19	5,722,615 (GRCm39)	missense	probably damaging	1.00
R2113:Pcnx3	UTSW	19	5,721,584 (GRCm39)	missense	possibly damaging	0.93
R2147:Pcnx3	UTSW	19	5,717,633 (GRCm39)	missense	probably damaging	1.00
R2358:Pcnx3	UTSW	19	5,733,368 (GRCm39)	start codon destroyed	probably null
R2358:Pcnx3	UTSW	19	5,733,367 (GRCm39)	nonsense	probably null
R2871:Pcnx3	UTSW	19	5,733,774 (GRCm39)	intron	probably benign
R3699:Pcnx3	UTSW	19	5,722,493 (GRCm39)	missense	probably damaging	1.00
R3712:Pcnx3	UTSW	19	5,733,368 (GRCm39)	start codon destroyed	probably null
R3712:Pcnx3	UTSW	19	5,733,367 (GRCm39)	nonsense	probably null
R3798:Pcnx3	UTSW	19	5,728,696 (GRCm39)	nonsense	probably null
R3856:Pcnx3	UTSW	19	5,728,995 (GRCm39)	missense	probably benign	0.02
R3953:Pcnx3	UTSW	19	5,733,808 (GRCm39)	splice site	probably benign
R4613:Pcnx3	UTSW	19	5,717,247 (GRCm39)	missense	possibly damaging	0.51
R4781:Pcnx3	UTSW	19	5,737,158 (GRCm39)	missense	probably damaging	0.99
R4816:Pcnx3	UTSW	19	5,738,023 (GRCm39)	critical splice donor site	probably null
R5338:Pcnx3	UTSW	19	5,722,624 (GRCm39)	missense	probably damaging	1.00
R5770:Pcnx3	UTSW	19	5,731,607 (GRCm39)	intron	probably benign
R5950:Pcnx3	UTSW	19	5,717,186 (GRCm39)	missense	possibly damaging	0.81
R5951:Pcnx3	UTSW	19	5,721,708 (GRCm39)	missense	possibly damaging	0.71
R5969:Pcnx3	UTSW	19	5,735,563 (GRCm39)	missense	probably damaging	1.00
R6543:Pcnx3	UTSW	19	5,715,275 (GRCm39)	missense	probably benign	0.07
R6704:Pcnx3	UTSW	19	5,736,515 (GRCm39)	missense	possibly damaging	0.74
R7096:Pcnx3	UTSW	19	5,722,643 (GRCm39)	missense	probably damaging	1.00
R7177:Pcnx3	UTSW	19	5,737,527 (GRCm39)	missense	probably benign	0.01
R7308:Pcnx3	UTSW	19	5,736,175 (GRCm39)	missense	possibly damaging	0.52
R7387:Pcnx3	UTSW	19	5,723,364 (GRCm39)	missense	probably benign	0.33
R7488:Pcnx3	UTSW	19	5,717,487 (GRCm39)	missense	possibly damaging	0.72
R7670:Pcnx3	UTSW	19	5,727,210 (GRCm39)	missense	probably benign	0.03
R7831:Pcnx3	UTSW	19	5,735,989 (GRCm39)	missense	probably damaging	0.96
R7850:Pcnx3	UTSW	19	5,728,960 (GRCm39)	missense	possibly damaging	0.55
R8120:Pcnx3	UTSW	19	5,717,574 (GRCm39)	missense	probably benign
R8139:Pcnx3	UTSW	19	5,715,773 (GRCm39)	missense	probably benign	0.00
R8258:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8259:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8260:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8261:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8262:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8350:Pcnx3	UTSW	19	5,723,254 (GRCm39)	missense	probably damaging	1.00
R8411:Pcnx3	UTSW	19	5,729,618 (GRCm39)	missense	possibly damaging	0.90
R8429:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8431:Pcnx3	UTSW	19	5,715,412 (GRCm39)	missense	probably damaging	1.00
R8443:Pcnx3	UTSW	19	5,736,670 (GRCm39)	missense	probably benign
R8450:Pcnx3	UTSW	19	5,723,254 (GRCm39)	missense	probably damaging	1.00
R8494:Pcnx3	UTSW	19	5,725,404 (GRCm39)	missense	probably damaging	0.99
R8790:Pcnx3	UTSW	19	5,735,206 (GRCm39)	missense	possibly damaging	0.71
R8939:Pcnx3	UTSW	19	5,730,347 (GRCm39)	missense	probably damaging	0.98
R9065:Pcnx3	UTSW	19	5,717,582 (GRCm39)	missense	possibly damaging	0.86
R9070:Pcnx3	UTSW	19	5,715,601 (GRCm39)	missense	probably benign	0.33
X0028:Pcnx3	UTSW	19	5,734,455 (GRCm39)	missense	probably damaging	1.00
X0053:Pcnx3	UTSW	19	5,736,650 (GRCm39)	splice site	probably null
Z1176:Pcnx3	UTSW	19	5,737,248 (GRCm39)	critical splice acceptor site	probably null
Z1177:Pcnx3	UTSW	19	5,721,654 (GRCm39)	missense	probably benign	0.17

Posted On

2014-01-21