Mutagenetix > Incidental Mutations

Incidental Mutation 'R2075:Pdzd2'

227566

Institutional Source

Beutler Lab

Gene Symbol

Pdzd2

Ensembl Gene

ENSMUSG00000022197

Gene Name

PDZ domain containing 2

Synonyms

Pdzk3, A930022H17Rik, 4930537L06Rik, Gm21706, LOC223364

MMRRC Submission

040080-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R2075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12359711-12739924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12385819 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 955 (L955P)

Ref Sequence

ENSEMBL: ENSMUSP00000074788 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075317
AA Change: L955P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: L955P

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	C	T	6: 129,326,703	E100K	probably benign	Het
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
Abca13	T	C	11: 9,522,382	F4263L	probably damaging	Het
Aebp2	G	A	6: 140,633,694	S219N	probably benign	Het
Anln	C	A	9: 22,333,168	W1083L	probably benign	Het
Atic	T	A	1: 71,576,127	D438E	probably benign	Het
Bahcc1	G	A	11: 120,271,689	C271Y	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ccdc149	A	G	5: 52,439,168	L34P	probably damaging	Het
Cd22	C	G	7: 30,869,698	C637S	probably damaging	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,208,022	M65K	probably damaging	Het
Clec16a	G	A	16: 10,741,616	A918T	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Ddx10	A	T	9: 53,240,505	D73E	probably benign	Het
Dhx32	T	C	7: 133,721,292	N731S	probably benign	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dna2	A	G	10: 62,969,822	Q946R	probably benign	Het
Duox2	T	A	2: 122,295,158	S323C	probably damaging	Het
Esr2	A	G	12: 76,165,447		probably null	Het
Fbxo9	G	T	9: 78,084,516	H397N	possibly damaging	Het
Fsip2	T	A	2: 82,988,579	N4885K	possibly damaging	Het
Gm12695	T	C	4: 96,723,945	Y527C	possibly damaging	Het
Hivep1	A	G	13: 42,156,318	D678G	probably damaging	Het
Hmcn1	T	A	1: 150,577,323	I5414F	possibly damaging	Het
Hspb2	T	C	9: 50,751,346	Y67C	probably benign	Het
Kbtbd8	T	A	6: 95,126,683	C438S	possibly damaging	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Ky	A	G	9: 102,542,746	S651G	probably damaging	Het
Lgals12	T	C	19: 7,598,845	D238G	possibly damaging	Het
Lpcat3	T	A	6: 124,703,103	Y380N	probably damaging	Het
Mdn1	A	G	4: 32,716,058	H2080R	probably benign	Het
Mex3c	C	T	18: 73,589,769	S311L	probably benign	Het
Mlh3	A	T	12: 85,269,141	Y90*	probably null	Het
Mpped2	T	A	2: 106,744,802	Y77*	probably null	Het
Myo5a	A	T	9: 75,189,918	T49S	probably benign	Het
Nsd1	T	C	13: 55,310,500	V2142A	possibly damaging	Het
Olfr1247	A	G	2: 89,609,478	V208A	probably benign	Het
Olfr201	T	C	16: 59,268,911	Y252C	possibly damaging	Het
Olfr64	T	A	7: 103,892,920	I272F	probably damaging	Het
Olfr641	T	A	7: 104,039,973	M59K	probably damaging	Het
Pdgfra	T	C	5: 75,187,948	I883T	probably damaging	Het
Phf24	A	G	4: 42,939,507	Y333C	possibly damaging	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Piezo2	C	T	18: 63,081,734	E1263K	probably damaging	Het
Pitrm1	A	G	13: 6,555,383	T149A	probably damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plch2	A	T	4: 154,989,909	L754Q	probably damaging	Het
Polr2c	A	G	8: 94,863,567	I267V	probably benign	Het
Prss8	C	A	7: 127,927,094	R148L	possibly damaging	Het
Ptpn2	T	A	18: 67,681,475	T155S	probably damaging	Het
Ptprn2	G	A	12: 117,247,717	V839I	probably benign	Het
Sbp	A	G	17: 23,945,158		probably null	Het
Sec16a	A	G	2: 26,440,239	I588T	probably damaging	Het
Six2	A	G	17: 85,687,505	S150P	probably damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Slc6a20b	T	A	9: 123,595,034	T623S	probably benign	Het
Sqle	T	A	15: 59,323,901	V342E	probably damaging	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Tek	A	G	4: 94,827,729	I463V	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tnc	G	A	4: 63,995,666	T1303M	possibly damaging	Het
Traf6	A	C	2: 101,697,053	I383L	probably benign	Het
Tubb3	C	T	8: 123,421,270	A314V	probably damaging	Het
Vmn1r199	A	T	13: 22,383,265	Y243F	probably damaging	Het
Vmn2r111	A	C	17: 22,559,062	N545K	probably damaging	Het
Vmn2r27	T	A	6: 124,200,551	Q498L	possibly damaging	Het
Vstm4	A	T	14: 32,917,854	S229C	probably damaging	Het
Wdr12	C	T	1: 60,091,063	R63Q	possibly damaging	Het
Wdr78	G	A	4: 103,050,193	T632M	probably damaging	Het
Wrn	T	A	8: 33,322,329	I187L	probably benign	Het
Xirp2	A	T	2: 67,510,201	I929L	probably benign	Het
Ywhae	T	A	11: 75,764,660	D252E	probably benign	Het
Zfp944	A	T	17: 22,339,197	C356*	probably null	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
R1513:Pdzd2	UTSW	15	12373829	missense	possibly damaging	0.88
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
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
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'- CTGGAGTCGTTCATCCTGCTTG -3'
(R):5'- AGCCAGGCCAGATTGGAAAC -3'

Sequencing Primer
(F):5'- CAATACTTTTGGAAGAGGTTGCC -3'
(R):5'- CAGGCCAGATTGGAAACTTGTGTTC -3'

Posted On

2014-09-17