Mutagenetix > Incidental Mutation

Incidental Mutation 'R1513:Pdzd2'

168564

Institutional Source

Beutler Lab

Gene Symbol

Pdzd2

Ensembl Gene

ENSMUSG00000022197

Gene Name

PDZ domain containing 2

Synonyms

Pdzk3, A930022H17Rik, 4930537L06Rik, Gm21706, LOC223364

MMRRC Submission

039560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12359711-12739924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12373829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 2073 (S2073R)

Ref Sequence

ENSEMBL: ENSMUSP00000074788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075317]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075317
AA Change: S2073R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: S2073R

Domain	Start	End	E-Value	Type
PDZ	81	179	1.27e-2	SMART
PDZ	342	419	1.51e-18	SMART
PDZ	597	675	5.25e-18	SMART
low complexity region	690	718	N/A	INTRINSIC
PDZ	738	817	1.64e-10	SMART
low complexity region	861	869	N/A	INTRINSIC
low complexity region	969	984	N/A	INTRINSIC
low complexity region	986	1000	N/A	INTRINSIC
low complexity region	1436	1459	N/A	INTRINSIC
low complexity region	1525	1537	N/A	INTRINSIC
low complexity region	1538	1553	N/A	INTRINSIC
low complexity region	1567	1586	N/A	INTRINSIC
low complexity region	2111	2129	N/A	INTRINSIC
low complexity region	2190	2198	N/A	INTRINSIC
low complexity region	2335	2354	N/A	INTRINSIC
low complexity region	2469	2479	N/A	INTRINSIC
PDZ	2589	2666	1.3e-13	SMART
PDZ	2716	2794	9.42e-20	SMART

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	T	5: 114,809,273	C64*	probably null	Het
1700003H04Rik	A	C	3: 124,575,336	Y109D	possibly damaging	Het
Abca15	A	T	7: 120,340,099	I239F	probably damaging	Het
Adgrv1	A	G	13: 81,593,048	V99A	probably damaging	Het
Adgrv1	A	T	13: 81,556,957	I1578K	probably damaging	Het
Ap4e1	G	T	2: 127,061,555	K792N	probably null	Het
Ap5b1	G	A	19: 5,569,864	W437*	probably null	Het
Arhgef17	A	G	7: 100,930,862	L293P	probably benign	Het
Arhgef33	A	C	17: 80,371,389	M505L	probably benign	Het
Arih1	T	A	9: 59,403,380	R320S	probably damaging	Het
Atp1b3	A	T	9: 96,364,153	M1K	probably null	Het
AU022751	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 6,082,591		probably benign	Het
Bbs2	T	C	8: 94,089,844	D130G	possibly damaging	Het
Bscl2	G	A	19: 8,841,145	R38H	probably damaging	Het
Cad	A	G	5: 31,068,762	Y1102C	probably damaging	Het
Cc2d1b	G	A	4: 108,633,226	R825Q	probably damaging	Het
Ccdc39	A	G	3: 33,839,145	V97A	possibly damaging	Het
Ccr1	T	C	9: 123,964,473	T7A	probably benign	Het
Cd33	A	G	7: 43,532,194	S181P	probably damaging	Het
Cdc20	A	C	4: 118,433,107	S452R	probably damaging	Het
Cdk8	A	T	5: 146,296,378	I229F	possibly damaging	Het
Ces3a	A	T	8: 105,050,277	N131Y	probably damaging	Het
Cgnl1	A	G	9: 71,724,590	I493T	probably benign	Het
Chia1	G	A	3: 106,131,904	V437M	probably benign	Het
Chrna2	G	A	14: 66,143,429	R49H	probably benign	Het
Clec12b	A	G	6: 129,376,302	C241R	probably damaging	Het
Col11a1	A	G	3: 114,097,154	D380G	unknown	Het
Crebbp	A	G	16: 4,115,885	S948P	probably damaging	Het
Dchs1	G	A	7: 105,772,071	R381*	probably null	Het
Defb19	A	T	2: 152,576,165	*84R	probably null	Het
Dnah8	T	C	17: 30,673,888	F816L	probably benign	Het
Dync2h1	T	A	9: 7,103,663	I371F	possibly damaging	Het
Fggy	T	C	4: 95,902,058		probably benign	Het
Galnt12	G	A	4: 47,117,956	C125Y	probably damaging	Het
Gm4952	A	T	19: 12,624,675	D149V	probably damaging	Het
Gm6309	A	T	5: 146,170,583	H37Q	possibly damaging	Het
Gmnn	A	G	13: 24,756,632	L78P	possibly damaging	Het
Golga4	C	A	9: 118,555,732	Q613K	probably benign	Het
Iqgap2	A	T	13: 95,630,010	I1495K	probably damaging	Het
Junb	T	C	8: 84,978,129	T101A	probably damaging	Het
Kif21b	T	C	1: 136,156,111	Y699H	probably damaging	Het
Klf17	T	C	4: 117,760,935	E75G	probably damaging	Het
Klra17	T	C	6: 129,872,314	E99G	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	7: 118,852,449		probably benign	Het
Krt83	C	T	15: 101,489,657	V167M	probably benign	Het
Lce1m	A	G	3: 93,018,625		probably benign	Het
Lpin3	A	T	2: 160,904,548	Y709F	probably damaging	Het
Ltbp2	T	A	12: 84,791,944	D1080V	probably damaging	Het
Mycbp2	G	A	14: 103,204,389	T1980I	probably damaging	Het
Myo1g	T	A	11: 6,515,140	K435M	probably damaging	Het
Mypn	T	A	10: 63,169,368	N320I	probably damaging	Het
Naip5	A	T	13: 100,222,206	W841R	probably benign	Het
Ncapd2	A	T	6: 125,170,992	M1124K	probably damaging	Het
Ncf4	A	G	15: 78,262,360	D330G	probably benign	Het
Ndst3	C	T	3: 123,601,455	V509M	possibly damaging	Het
Neb	A	T	2: 52,227,244	D4105E	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nsrp1	A	T	11: 77,046,619	F250L	probably benign	Het
Olfr1024	A	T	2: 85,904,671	Y128N	probably damaging	Het
Olfr1087	C	T	2: 86,690,797	M59I	possibly damaging	Het
Olfr552	G	T	7: 102,605,302	G316V	probably benign	Het
Olfr646	C	T	7: 104,106,464	L62F	probably benign	Het
Olfr724	T	C	14: 49,961,101		probably null	Het
Olfr740	A	G	14: 50,453,681	I210V	probably benign	Het
Oxr1	A	G	15: 41,797,474	D67G	probably damaging	Het
P2ry12	A	T	3: 59,218,077	I59N	probably damaging	Het
Pcdhb12	G	T	18: 37,437,058	G419V	probably damaging	Het
Pex5l	C	A	3: 33,015,013	E112*	probably null	Het
Plaur	A	G	7: 24,472,591	D163G	probably benign	Het
Plk2	A	G	13: 110,400,088	Y638C	probably benign	Het
Ppp1r15b	A	G	1: 133,133,350	N535S	probably benign	Het
Ppp2r1b	T	C	9: 50,870,145	L21P	probably damaging	Het
Prkar2a	G	A	9: 108,728,270	V176I	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rag1	A	G	2: 101,642,991	M602T	possibly damaging	Het
Rb1	A	G	14: 73,322,084	V60A	probably benign	Het
Rgs20	T	A	1: 4,912,337	I303F	probably damaging	Het
Rnf43	T	A	11: 87,729,431	I240N	probably damaging	Het
Romo1	G	A	2: 156,144,513	V19M	probably benign	Het
Ryr1	A	G	7: 29,070,621	S2676P	probably damaging	Het
Ryr3	G	A	2: 112,709,197	Q3233*	probably null	Het
Skiv2l	G	T	17: 34,847,444	P188T	probably damaging	Het
Slc26a6	A	G	9: 108,855,836	R5G	probably benign	Het
Slc33a1	A	G	3: 63,963,955	L79P	probably damaging	Het
Snx31	G	A	15: 36,545,600	R91C	probably damaging	Het
Tecpr2	T	C	12: 110,954,800	I1269T	possibly damaging	Het
Tjap1	G	T	17: 46,261,442	D89E	probably benign	Het
Tmem53	A	T	4: 117,265,893	Q39L	probably damaging	Het
Tmod1	G	T	4: 46,083,549	V95F	possibly damaging	Het
Trim30c	A	C	7: 104,382,689	H306Q	probably benign	Het
Trpm3	A	T	19: 22,986,872	M1244L	possibly damaging	Het
Tspan32	A	G	7: 143,005,149	I14V	probably null	Het
Ube4b	A	G	4: 149,351,578	V695A	probably benign	Het
Ubxn11	G	A	4: 134,124,141		probably null	Het
Ugt3a2	A	G	15: 9,361,524	I129V	probably benign	Het
Vmn1r45	A	G	6: 89,933,076	V304A	probably damaging	Het
Vmn2r124	A	T	17: 18,063,273	S410C	probably damaging	Het
Vmn2r15	T	A	5: 109,293,329	D221V	probably damaging	Het
Vmn2r79	G	A	7: 87,037,444	V678I	probably benign	Het
Vps13b	A	T	15: 35,438,730	R319*	probably null	Het
Wdr95	G	A	5: 149,599,294	R639Q	probably benign	Het
Xirp2	A	G	2: 67,511,530	I1372V	probably benign	Het
Xpo5	T	A	17: 46,226,980	M611K	probably benign	Het
Zfat	A	G	15: 68,212,680	C121R	probably damaging	Het
Zfp382	A	T	7: 30,133,296	Y124F	probably benign	Het
Zfp512b	A	G	2: 181,589,189	F371S	probably benign	Het
Zfy2	A	G	Y: 2,116,185	V285A	probably benign	Het

Other mutations in Pdzd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Pdzd2	APN	15	12457983	missense	possibly damaging	0.93
IGL00586:Pdzd2	APN	15	12365767	splice site	probably null
IGL00697:Pdzd2	APN	15	12373647	missense	possibly damaging	0.81
IGL00721:Pdzd2	APN	15	12374412	missense	probably benign	0.00
IGL00971:Pdzd2	APN	15	12374718	missense	probably benign	0.00
IGL01066:Pdzd2	APN	15	12402632	unclassified	probably benign
IGL01389:Pdzd2	APN	15	12374626	missense	possibly damaging	0.56
IGL01505:Pdzd2	APN	15	12458207	missense	probably damaging	1.00
IGL01527:Pdzd2	APN	15	12445664	missense	probably damaging	1.00
IGL01584:Pdzd2	APN	15	12592483	missense	probably damaging	1.00
IGL01763:Pdzd2	APN	15	12372546	missense	probably benign
IGL01915:Pdzd2	APN	15	12371639	missense	probably damaging	1.00
IGL01947:Pdzd2	APN	15	12592354	missense	probably damaging	1.00
IGL02058:Pdzd2	APN	15	12376296	missense	possibly damaging	0.87
IGL02274:Pdzd2	APN	15	12445649	missense	probably damaging	1.00
IGL02408:Pdzd2	APN	15	12375765	missense	probably benign	0.00
IGL02600:Pdzd2	APN	15	12411019	missense	probably damaging	1.00
IGL02637:Pdzd2	APN	15	12385634	missense	probably benign	0.13
IGL02639:Pdzd2	APN	15	12592243	missense	probably damaging	1.00
IGL02712:Pdzd2	APN	15	12376027	missense	probably benign	0.00
IGL02967:Pdzd2	APN	15	12374341	missense	probably benign	0.04
IGL02992:Pdzd2	APN	15	12382622	missense	possibly damaging	0.77
IGL03005:Pdzd2	APN	15	12385265	missense	probably damaging	1.00
IGL03067:Pdzd2	APN	15	12388542	critical splice donor site	probably null
IGL03335:Pdzd2	APN	15	12373764	missense	probably benign	0.00
PIT4280001:Pdzd2	UTSW	15	12399288	missense	probably damaging	1.00
R0022:Pdzd2	UTSW	15	12371605	missense	possibly damaging	0.94
R0241:Pdzd2	UTSW	15	12367941	missense	probably damaging	1.00
R0241:Pdzd2	UTSW	15	12367941	missense	probably damaging	1.00
R0446:Pdzd2	UTSW	15	12375024	missense	probably benign	0.43
R0462:Pdzd2	UTSW	15	12592160	missense	probably damaging	1.00
R0562:Pdzd2	UTSW	15	12592278	missense	probably damaging	1.00
R0589:Pdzd2	UTSW	15	12376299	missense	probably benign	0.03
R0639:Pdzd2	UTSW	15	12458058	missense	possibly damaging	0.77
R0925:Pdzd2	UTSW	15	12399270	missense	probably damaging	1.00
R1015:Pdzd2	UTSW	15	12374508	missense	probably damaging	1.00
R1054:Pdzd2	UTSW	15	12371639	missense	probably damaging	1.00
R1070:Pdzd2	UTSW	15	12389966	critical splice donor site	probably null
R1099:Pdzd2	UTSW	15	12373087	missense	probably damaging	1.00
R1122:Pdzd2	UTSW	15	12457895	missense	probably benign	0.25
R1126:Pdzd2	UTSW	15	12458220	missense	possibly damaging	0.94
R1381:Pdzd2	UTSW	15	12385439	missense	probably benign	0.02
R1385:Pdzd2	UTSW	15	12411022	missense	probably benign	0.38
R1538:Pdzd2	UTSW	15	12372961	missense	probably damaging	1.00
R1750:Pdzd2	UTSW	15	12385864	missense	probably damaging	1.00
R1775:Pdzd2	UTSW	15	12592460	missense	probably damaging	1.00
R1801:Pdzd2	UTSW	15	12387654	missense	possibly damaging	0.56
R1832:Pdzd2	UTSW	15	12390048	missense	probably damaging	1.00
R1856:Pdzd2	UTSW	15	12373855	missense	possibly damaging	0.87
R1870:Pdzd2	UTSW	15	12457886	missense	probably damaging	1.00
R1879:Pdzd2	UTSW	15	12373900	missense	possibly damaging	0.61
R2072:Pdzd2	UTSW	15	12385819	missense	probably damaging	1.00
R2073:Pdzd2	UTSW	15	12385819	missense	probably damaging	1.00
R2075:Pdzd2	UTSW	15	12385819	missense	probably damaging	1.00
R2125:Pdzd2	UTSW	15	12373590	missense	probably benign	0.37
R2142:Pdzd2	UTSW	15	12406559	missense	probably damaging	1.00
R2155:Pdzd2	UTSW	15	12375793	missense	probably benign	0.43
R2282:Pdzd2	UTSW	15	12373848	missense	possibly damaging	0.95
R2407:Pdzd2	UTSW	15	12373161	missense	probably damaging	1.00
R3545:Pdzd2	UTSW	15	12375471	missense	probably benign	0.00
R3878:Pdzd2	UTSW	15	12376176	missense	probably benign	0.00
R3879:Pdzd2	UTSW	15	12375508	missense	probably damaging	1.00
R4396:Pdzd2	UTSW	15	12387646	missense	probably benign	0.36
R4398:Pdzd2	UTSW	15	12375975	missense	probably benign	0.30
R4491:Pdzd2	UTSW	15	12385637	missense	possibly damaging	0.75
R4492:Pdzd2	UTSW	15	12385637	missense	possibly damaging	0.75
R4492:Pdzd2	UTSW	15	12419481	missense	possibly damaging	0.48
R4656:Pdzd2	UTSW	15	12385711	missense	probably benign	0.00
R4715:Pdzd2	UTSW	15	12419516	missense	possibly damaging	0.72
R4803:Pdzd2	UTSW	15	12374595	missense	probably benign	0.04
R4893:Pdzd2	UTSW	15	12385343	missense	probably benign	0.00
R4959:Pdzd2	UTSW	15	12375648	missense	probably damaging	1.00
R4973:Pdzd2	UTSW	15	12375648	missense	probably damaging	1.00
R5030:Pdzd2	UTSW	15	12592408	nonsense	probably null
R5174:Pdzd2	UTSW	15	12372514	missense	probably benign	0.01
R5230:Pdzd2	UTSW	15	12390033	missense	probably damaging	1.00
R5256:Pdzd2	UTSW	15	12372942	missense	possibly damaging	0.87
R5268:Pdzd2	UTSW	15	12592177	missense	probably damaging	1.00
R5488:Pdzd2	UTSW	15	12382676	missense	probably benign	0.00
R5489:Pdzd2	UTSW	15	12382676	missense	probably benign	0.00
R5588:Pdzd2	UTSW	15	12374281	missense	possibly damaging	0.48
R5605:Pdzd2	UTSW	15	12592350	nonsense	probably null
R5704:Pdzd2	UTSW	15	12385675	missense	probably benign	0.02
R5858:Pdzd2	UTSW	15	12442589	missense	probably damaging	0.97
R6048:Pdzd2	UTSW	15	12592570	splice site	probably null
R6222:Pdzd2	UTSW	15	12374566	missense	probably damaging	1.00
R6311:Pdzd2	UTSW	15	12458188	missense	probably damaging	1.00
R6734:Pdzd2	UTSW	15	12592465	missense	probably damaging	1.00
R6897:Pdzd2	UTSW	15	12385865	missense	probably damaging	1.00
R6900:Pdzd2	UTSW	15	12374037	missense	probably benign
R6955:Pdzd2	UTSW	15	12401464	missense	probably damaging	1.00
R6959:Pdzd2	UTSW	15	12375907	missense	probably benign	0.17
R6992:Pdzd2	UTSW	15	12457859	missense	probably damaging	1.00
R7014:Pdzd2	UTSW	15	12372561	missense	probably benign	0.13
R7014:Pdzd2	UTSW	15	12372975	missense	probably benign	0.14
R7110:Pdzd2	UTSW	15	12368013	missense	probably damaging	1.00
R7180:Pdzd2	UTSW	15	12376123	missense	probably damaging	0.99
R7228:Pdzd2	UTSW	15	12372973	missense	probably benign	0.01
R7228:Pdzd2	UTSW	15	12458145	nonsense	probably null
R7317:Pdzd2	UTSW	15	12592243	missense	probably damaging	1.00
R7322:Pdzd2	UTSW	15	12437162	missense	probably damaging	1.00
R7349:Pdzd2	UTSW	15	12399205	missense	probably damaging	1.00
R7600:Pdzd2	UTSW	15	12372734	missense	probably damaging	1.00
R7663:Pdzd2	UTSW	15	12373203	missense	probably damaging	1.00
R7712:Pdzd2	UTSW	15	12407336	missense	probably damaging	1.00
R7716:Pdzd2	UTSW	15	12373374	missense	possibly damaging	0.63
R7740:Pdzd2	UTSW	15	12374016	missense	probably benign	0.00
R7748:Pdzd2	UTSW	15	12385786	missense	possibly damaging	0.60
R8017:Pdzd2	UTSW	15	12373036	missense	probably damaging	1.00
R8019:Pdzd2	UTSW	15	12373036	missense	probably damaging	1.00
R8108:Pdzd2	UTSW	15	12373506	missense	probably benign	0.01
R8109:Pdzd2	UTSW	15	12373506	missense	probably benign	0.01
R8110:Pdzd2	UTSW	15	12373506	missense	probably benign	0.01
R8111:Pdzd2	UTSW	15	12373506	missense	probably benign	0.01
R8145:Pdzd2	UTSW	15	12407372	missense	probably benign	0.37
R8220:Pdzd2	UTSW	15	12592163	missense	probably damaging	0.99
R8278:Pdzd2	UTSW	15	12375909	missense	probably benign
R8768:Pdzd2	UTSW	15	12437166	missense	probably damaging	1.00
R8879:Pdzd2	UTSW	15	12402319	missense	probably damaging	1.00
R9019:Pdzd2	UTSW	15	12375526	missense	probably damaging	1.00
R9030:Pdzd2	UTSW	15	12374299	missense	probably benign	0.02
R9061:Pdzd2	UTSW	15	12374667	missense	possibly damaging	0.94
R9302:Pdzd2	UTSW	15	12374256	missense	possibly damaging	0.61
R9321:Pdzd2	UTSW	15	12385937	missense	probably benign	0.00
R9421:Pdzd2	UTSW	15	12375028	missense
R9515:Pdzd2	UTSW	15	12374535	missense	probably damaging	1.00
R9592:Pdzd2	UTSW	15	12458020	missense	probably damaging	1.00
R9614:Pdzd2	UTSW	15	12375400	missense	probably damaging	1.00
R9630:Pdzd2	UTSW	15	12374357	missense	probably benign	0.37
R9776:Pdzd2	UTSW	15	12457823	missense	probably benign	0.03
X0057:Pdzd2	UTSW	15	12411027	missense	probably damaging	1.00
X0063:Pdzd2	UTSW	15	12368719	missense	possibly damaging	0.77
X0066:Pdzd2	UTSW	15	12372856	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCTGGCATTTTGGAGGGCAGC -3'
(R):5'- GGTCAGACAGAGCAAGCAGTTCAC -3'

Sequencing Primer
(F):5'- GGACCAACGCATTTCCTGTT -3'
(R):5'- GTTCACACACAGCCGAGTAG -3'

Posted On

2014-04-13