Mutagenetix > Incidental Mutation

Incidental Mutation 'R2358:Pcnx3'

247044

Institutional Source

Beutler Lab

Gene Symbol

Pcnx3

Ensembl Gene

ENSMUSG00000054874

Gene Name

pecanex homolog 3

Synonyms

Pcnxl3

MMRRC Submission

040340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5714663-5738936 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 5733367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 155 (Q155*)

Gene Model

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

AlphaFold

Q8VI59

Predicted Effect

probably null
Transcript: ENSMUST00000068169
AA Change: Q317*

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: Q317*

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: Q725*

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: Q725*

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 null
Transcript: ENSMUST00000127876
AA Change: Q2*

SMART Domains

Protein: ENSMUSP00000123696
Gene: ENSMUSG00000054874
AA Change: Q2*

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: 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 null
Transcript: ENSMUST00000141577
AA Change: Q54*

SMART Domains

Protein: ENSMUSP00000116451
Gene: ENSMUSG00000054874
AA Change: Q54*

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: Q155*

SMART Domains

Protein: ENSMUSP00000116493
Gene: ENSMUSG00000054874
AA Change: Q155*

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: ENSMUST00000147161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184789

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Ankzf1	C	T	1: 75,171,895 (GRCm39)	H209Y	probably damaging	Het
Ate1	A	T	7: 130,117,895 (GRCm39)	M30K	probably damaging	Het
Cd27	A	G	6: 125,210,281 (GRCm39)	Y189H	probably damaging	Het
Cela1	A	G	15: 100,579,109 (GRCm39)	I183T	probably benign	Het
Copg2	A	T	6: 30,803,168 (GRCm39)	L259*	probably null	Het
Dennd2b	A	T	7: 109,155,653 (GRCm39)	S366T	probably benign	Het
Efcab7	T	A	4: 99,719,823 (GRCm39)		probably benign	Het
Fcrl5	A	G	3: 87,353,726 (GRCm39)	E357G	probably damaging	Het
Fzr1	C	T	10: 81,203,474 (GRCm39)		probably null	Het
Il12rb2	C	T	6: 67,275,179 (GRCm39)	A649T	probably damaging	Het
Itfg1	C	A	8: 86,464,758 (GRCm39)	V438F	probably damaging	Het
Jaml	A	C	9: 45,012,361 (GRCm39)	I283L	possibly damaging	Het
Kif28	A	T	1: 179,537,024 (GRCm39)	H486Q	probably damaging	Het
Lrch4	A	G	5: 137,636,810 (GRCm39)		probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mrpl32	A	T	13: 14,785,165 (GRCm39)	V157E	probably damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nlrp4a	A	G	7: 26,163,623 (GRCm39)	D930G	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or7a35	T	C	10: 78,854,022 (GRCm39)	F289L	probably damaging	Het
Ovch2	A	T	7: 107,394,122 (GRCm39)	H110Q	probably damaging	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Ptpn12	G	A	5: 21,203,690 (GRCm39)	P363S	probably damaging	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,825,785 (GRCm39)		probably benign	Het
Rpl13-ps3	A	G	14: 59,131,265 (GRCm39)		noncoding transcript	Het
Sap18b	G	A	8: 96,552,191 (GRCm39)	R67H	probably benign	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Shmt2	T	C	10: 127,353,897 (GRCm39)	T459A	probably benign	Het
Siglecg	A	G	7: 43,058,846 (GRCm39)	S200G	possibly damaging	Het
Slc6a15	T	G	10: 103,252,646 (GRCm39)	I603S	probably benign	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Spata31d1a	G	A	13: 59,851,702 (GRCm39)	S142L	probably benign	Het
Spopfm2	G	A	3: 94,082,854 (GRCm39)	A319V	possibly damaging	Het
Spopfm2	C	A	3: 94,082,855 (GRCm39)	A319S	possibly damaging	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Strip1	A	G	3: 107,523,135 (GRCm39)	V633A	probably benign	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Terb2	T	A	2: 122,028,913 (GRCm39)	C157S	probably benign	Het
Themis	T	A	10: 28,739,376 (GRCm39)	N615K	possibly damaging	Het
Tlnrd1	A	T	7: 83,531,488 (GRCm39)	D314E	probably benign	Het
Vmn1r205	T	A	13: 22,776,566 (GRCm39)	T179S	probably benign	Het
Vsig10l	G	A	7: 43,118,185 (GRCm39)	R689H	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Zfp423	G	T	8: 88,507,179 (GRCm39)	A1034D	possibly damaging	Het
Zfy2	T	C	Y: 2,107,272 (GRCm39)	E454G	possibly damaging	Het
Zyg11a	G	T	4: 108,053,343 (GRCm39)	Q440K	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGTGATCTAGCCCTCTTGG -3'
(R):5'- GGCCTGCAAGAGATACTTCTG -3'

Sequencing Primer
(F):5'- ACCAGCCTTAGTCATCTG -3'
(R):5'- CCTGCAAGAGATACTTCTGCAATCTG -3'

Posted On

2014-10-30