Mutagenetix > Incidental Mutation

Incidental Mutation 'R8350:Pcnx3'

645497

Institutional Source

Beutler Lab

Gene Symbol

Pcnx3

Ensembl Gene

ENSMUSG00000054874

Gene Name

pecanex homolog 3

Synonyms

Pcnxl3

MMRRC Submission

067868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5714663-5738936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5723254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1314 (N1314Y)

Ref Sequence

ENSEMBL: ENSMUSP00000109245 (fasta)

Gene Model

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

AlphaFold

Q8VI59

Predicted Effect

probably damaging
Transcript: ENSMUST00000068169
AA Change: N906Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: N906Y

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: N1314Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: N1314Y

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: ENSMUST00000137313

SMART Domains

Protein: ENSMUSP00000115217
Gene: ENSMUSG00000054874

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: 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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Akirin2	T	A	4: 34,551,082 (GRCm39)	F13Y	probably damaging	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Armc12	T	A	17: 28,751,031 (GRCm39)	D82E	probably damaging	Het
Atg2a	T	C	19: 6,296,841 (GRCm39)	S382P	probably benign	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Cep170	A	G	1: 176,564,445 (GRCm39)	L271S		Het
Cers3	T	C	7: 66,414,090 (GRCm39)	F92S	possibly damaging	Het
Chmp4c	A	T	3: 10,450,746 (GRCm39)	M109L	possibly damaging	Het
Cnmd	T	A	14: 79,882,821 (GRCm39)	K202*	probably null	Het
Cnp	T	C	11: 100,467,267 (GRCm39)	I70T	probably damaging	Het
Col27a1	C	A	4: 63,248,134 (GRCm39)	T1721K	unknown	Het
Crtac1	G	A	19: 42,297,625 (GRCm39)	R242W	probably damaging	Het
Cry2	T	C	2: 92,244,286 (GRCm39)	R296G	probably benign	Het
Cyp2t4	A	G	7: 26,856,806 (GRCm39)	D282G	possibly damaging	Het
Dip2a	G	T	10: 76,100,690 (GRCm39)	T1495N	probably damaging	Het
Dmbt1	T	C	7: 130,687,147 (GRCm39)		probably null	Het
Dmp1	A	T	5: 104,360,765 (GRCm39)	K480N	probably damaging	Het
Dnah17	A	G	11: 117,977,873 (GRCm39)	S1820P	probably damaging	Het
Dnah6	A	G	6: 73,172,798 (GRCm39)	V220A	probably benign	Het
Eif4a3l1	C	T	6: 136,306,241 (GRCm39)	T234I	possibly damaging	Het
Epha3	T	C	16: 63,472,853 (GRCm39)	D344G	possibly damaging	Het
Esyt2	C	A	12: 116,327,102 (GRCm39)	Q557K	probably damaging	Het
Fam72a	A	T	1: 131,461,663 (GRCm39)	D116V	probably damaging	Het
Fam81a	T	C	9: 70,032,300 (GRCm39)	N64S	probably damaging	Het
Fat3	T	A	9: 15,826,435 (GRCm39)	T358S		Het
Frat2	A	T	19: 41,836,223 (GRCm39)	I43N	probably damaging	Het
Fryl	A	T	5: 73,226,073 (GRCm39)	D1863E	probably benign	Het
Gm43302	A	T	5: 105,422,573 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,363,273 (GRCm39)	Y422C	probably damaging	Het
Hap1	T	G	11: 100,240,107 (GRCm39)	D563A	probably damaging	Het
Hbb-bs	T	C	7: 103,475,951 (GRCm39)	D122G	probably benign	Het
Hs3st3b1	G	C	11: 63,780,390 (GRCm39)	P246A	probably benign	Het
Hsd17b4	T	G	18: 50,297,734 (GRCm39)	L341R	probably benign	Het
Kbtbd11	G	A	8: 15,078,603 (GRCm39)	V401M	probably damaging	Het
Lss	T	A	10: 76,371,429 (GRCm39)	L120Q	probably damaging	Het
Mdc1	T	G	17: 36,159,191 (GRCm39)	S524A	probably benign	Het
Myoz3	T	C	18: 60,712,074 (GRCm39)	Y168C	probably damaging	Het
Nceh1	C	A	3: 27,293,813 (GRCm39)	D190E	probably damaging	Het
Neb	T	C	2: 52,096,194 (GRCm39)	R5039G	probably benign	Het
Nup50	T	A	15: 84,819,476 (GRCm39)	V250E	probably benign	Het
Pdzk1	A	G	3: 96,759,024 (GRCm39)	N143S	probably benign	Het
Rnf223	T	G	4: 156,217,120 (GRCm39)	L165R	probably damaging	Het
Sbf1	A	T	15: 89,183,712 (GRCm39)	F1267Y	probably damaging	Het
Scrn3	T	G	2: 73,160,113 (GRCm39)	I252R	possibly damaging	Het
Sdr39u1	T	C	14: 56,135,363 (GRCm39)	I193M	probably damaging	Het
Sh2d7	A	G	9: 54,448,191 (GRCm39)	R71G	probably benign	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Syk	T	C	13: 52,774,935 (GRCm39)	L225P	probably damaging	Het
Tbx1	A	T	16: 18,400,795 (GRCm39)	V463E	unknown	Het
Tmem67	C	T	4: 12,087,891 (GRCm39)	R19H	probably benign	Het
Ttn	T	A	2: 76,609,108 (GRCm39)	I17666F	possibly damaging	Het
Vcpip1	A	G	1: 9,794,831 (GRCm39)	V1180A	probably benign	Het
Wdr27	T	C	17: 15,152,787 (GRCm39)	T107A	probably benign	Het
Zfp106	T	C	2: 120,366,099 (GRCm39)	R58G		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
IGL01667:Pcnx3	APN	19	5,736,658 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- CATGAGGCTTTGGACTGCTG -3'
(R):5'- GCTGTACCACGTATCCAGCTTC -3'

Sequencing Primer
(F):5'- GGGTGTTTGTTTACCAGACGCAC -3'
(R):5'- TGTGTGGAGAGCAGCAGC -3'

Posted On

2020-09-02