Mutagenetix > Incidental Mutation

Incidental Mutation 'R8431:Pcnx3'

653776

Institutional Source

Beutler Lab

Gene Symbol

Pcnx3

Ensembl Gene

ENSMUSG00000054874

Gene Name

pecanex homolog 3

Synonyms

Pcnxl3

MMRRC Submission

067776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5714663-5738936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5715412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 1946 (G1946E)

Ref Sequence

ENSEMBL: ENSMUSP00000109245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000071857] [ENSMUST00000080824] [ENSMUST00000113615] [ENSMUST00000164304] [ENSMUST00000169854]

AlphaFold

Q8VI59

Predicted Effect

probably damaging
Transcript: ENSMUST00000068169
AA Change: G1538E

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

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: G1538E

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: ENSMUST00000071857

SMART Domains

Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	164	192	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
Pfam:Rap_GAP	346	529	7.2e-64	PFAM
low complexity region	580	593	N/A	INTRINSIC
PDZ	692	758	9.51e-7	SMART
low complexity region	828	841	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC
coiled coil region	969	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080824

SMART Domains

Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	164	192	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
Pfam:Rap_GAP	346	535	4.4e-60	PFAM
low complexity region	580	593	N/A	INTRINSIC
PDZ	692	758	9.51e-7	SMART
low complexity region	828	841	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC
coiled coil region	969	1023	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113615
AA Change: G1946E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: G1946E

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: ENSMUST00000133136

SMART Domains

Protein: ENSMUSP00000123666
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
Pfam:Pecanex_C	1	129	7.9e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164304

SMART Domains

Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	164	192	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
Pfam:Rap_GAP	346	535	4.4e-60	PFAM
low complexity region	580	593	N/A	INTRINSIC
PDZ	692	758	9.51e-7	SMART
low complexity region	828	841	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC
coiled coil region	969	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169854

SMART Domains

Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	164	192	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
Pfam:Rap_GAP	346	535	4.4e-60	PFAM
low complexity region	580	593	N/A	INTRINSIC
PDZ	692	758	9.51e-7	SMART
low complexity region	828	841	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC
coiled coil region	969	1023	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,694,873 (GRCm39)	F273S		Het
Abhd14b	G	T	9: 106,328,612 (GRCm39)	A78S	probably benign	Het
Adamtsl5	G	A	10: 80,181,228 (GRCm39)	P51L	probably benign	Het
Adap1	A	C	5: 139,259,180 (GRCm39)	F336V	probably benign	Het
Ankrd33b	T	C	15: 31,305,248 (GRCm39)	N172S	probably damaging	Het
Arhgap24	A	G	5: 103,040,464 (GRCm39)	E560G	possibly damaging	Het
Ascc2	A	T	11: 4,614,227 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Card6	A	T	15: 5,129,758 (GRCm39)	F546Y	probably damaging	Het
Cby3	T	G	11: 50,250,084 (GRCm39)	S2A	probably damaging	Het
Cct3	T	C	3: 88,225,831 (GRCm39)	S385P	possibly damaging	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Cpne3	C	A	4: 19,526,316 (GRCm39)	A408S	probably damaging	Het
Ctsr	A	C	13: 61,308,304 (GRCm39)	L280R	probably damaging	Het
D930048N14Rik	GGG	GGGG	11: 51,541,946 (GRCm39)		probably null	Het
Dlg4	A	G	11: 69,930,388 (GRCm39)	I388V	probably benign	Het
Ednrb	T	A	14: 104,080,633 (GRCm39)	I94F	probably benign	Het
Eftud2	C	A	11: 102,737,062 (GRCm39)	A573S	probably benign	Het
Fsip2	C	A	2: 82,811,910 (GRCm39)	P2743Q	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Ier5	C	A	1: 154,974,306 (GRCm39)	D291Y	probably benign	Het
Ifi207	T	C	1: 173,558,070 (GRCm39)	I223V	unknown	Het
Ifi208	T	C	1: 173,510,844 (GRCm39)	V333A	possibly damaging	Het
Kank4	T	C	4: 98,667,509 (GRCm39)	I313V	probably benign	Het
Klhl7	T	C	5: 24,343,473 (GRCm39)	V263A	possibly damaging	Het
Klrg2	T	C	6: 38,605,122 (GRCm39)	D314G	probably benign	Het
Lrr1	T	C	12: 69,225,470 (GRCm39)	M382T	possibly damaging	Het
Ly6e	A	T	15: 74,830,190 (GRCm39)	Q48L	probably benign	Het
Marchf6	C	T	15: 31,505,892 (GRCm39)	W43*	probably null	Het
Mepe	A	G	5: 104,486,047 (GRCm39)	T396A	possibly damaging	Het
Myh8	T	G	11: 67,174,440 (GRCm39)	L229R	possibly damaging	Het
Ndufa10	C	G	1: 92,379,732 (GRCm39)		probably null	Het
Nek1	C	A	8: 61,487,066 (GRCm39)	A272E	possibly damaging	Het
Nr1h2	T	C	7: 44,199,767 (GRCm39)	Y384C	probably damaging	Het
Or4c118	C	A	2: 88,974,723 (GRCm39)	V215F	probably benign	Het
Phf2	A	G	13: 48,975,078 (GRCm39)	F294S	unknown	Het
Polr3e	A	T	7: 120,530,528 (GRCm39)	I173F	probably damaging	Het
Ppfia2	A	T	10: 106,671,952 (GRCm39)	R464*	probably null	Het
Ppp1r9a	T	A	6: 5,115,456 (GRCm39)	S860T	probably benign	Het
Rnf144a	T	C	12: 26,377,300 (GRCm39)	Y93C	probably damaging	Het
Ryr2	T	C	13: 11,673,894 (GRCm39)	E3390G	probably benign	Het
Scn7a	T	C	2: 66,534,164 (GRCm39)	T504A	possibly damaging	Het
Slc26a5	T	G	5: 22,018,904 (GRCm39)	D645A	probably damaging	Het
Sp140l2	G	A	1: 85,235,170 (GRCm39)	H130Y	probably benign	Het
Ston2	T	A	12: 91,615,071 (GRCm39)	I446F	probably damaging	Het
Tcp11l1	G	A	2: 104,530,314 (GRCm39)	P57S	probably damaging	Het
Th	G	T	7: 142,446,801 (GRCm39)	H488Q	probably benign	Het
Tmprss4	A	T	9: 45,095,661 (GRCm39)	I61N	probably benign	Het
Wdtc1	A	G	4: 133,049,481 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 52,983,937 (GRCm39)	N596S	probably benign	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
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
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'- ACATCAGGACTGAGGCTGAG -3'
(R):5'- TTTCCTACAGGCAGCAGTGAG -3'

Sequencing Primer
(F):5'- TCAGGACTGAGGCTGAGGTCTAG -3'
(R):5'- CCCTCAGTGGCTCTGGTGATG -3'

Posted On

2020-10-20