Mutagenetix > Incidental Mutation

Incidental Mutation 'R9302:Pdzd2'

705035

Institutional Source

Beutler Lab

Gene Symbol

Pdzd2

Ensembl Gene

ENSMUSG00000022197

Gene Name

PDZ domain containing 2

Synonyms

Gm21706, A930022H17Rik, Pdzk3, 4930537L06Rik, LOC223364

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R9302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12359797-12740010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12374342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 1931 (T1931N)

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: T1931N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: T1931N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,392,956 (GRCm39)	L115P	probably damaging	Het
Acsl1	T	A	8: 46,983,470 (GRCm39)	D494E	probably damaging	Het
Adgrl1	T	C	8: 84,656,426 (GRCm39)	V243A	possibly damaging	Het
Ak9	A	T	10: 41,196,486 (GRCm39)	I103F		Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Ano4	T	A	10: 88,831,220 (GRCm39)	I468L	probably benign	Het
Anxa2r1	A	G	13: 120,496,626 (GRCm39)	I81T	probably benign	Het
Arhgef10l	G	A	4: 140,242,548 (GRCm39)	S959L	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cfap221	T	C	1: 119,853,365 (GRCm39)	I776M	probably benign	Het
Col3a1	C	T	1: 45,350,980 (GRCm39)	Q25*	probably null	Het
Crabp2	C	A	3: 87,859,833 (GRCm39)	L100I	probably benign	Het
Dnah5	A	G	15: 28,240,032 (GRCm39)	D463G	probably benign	Het
Dst	T	C	1: 34,264,636 (GRCm39)	L2602P	probably damaging	Het
Dusp1	A	G	17: 26,726,148 (GRCm39)	Y182H	probably damaging	Het
Fhip1a	C	A	3: 85,579,941 (GRCm39)	D755Y	probably damaging	Het
Fras1	T	A	5: 96,682,751 (GRCm39)	C83S	probably damaging	Het
Frrs1	G	T	3: 116,692,899 (GRCm39)		probably null	Het
Gcnt3	A	G	9: 69,942,529 (GRCm39)	L13P	possibly damaging	Het
Gm8094	T	C	14: 42,932,834 (GRCm39)	D88G	probably benign	Het
Hfe	C	T	13: 23,890,025 (GRCm39)	M249I	probably benign	Het
Hipk1	T	C	3: 103,685,099 (GRCm39)	E172G	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Ltb4r2	A	T	14: 55,999,733 (GRCm39)	Q118L	probably damaging	Het
Ltbp4	A	T	7: 27,008,481 (GRCm39)	C1342S	possibly damaging	Het
Lyst	A	G	13: 13,904,947 (GRCm39)	D3208G	possibly damaging	Het
Mbnl2	A	G	14: 120,622,950 (GRCm39)	T163A	probably benign	Het
Mre11a	T	A	9: 14,696,826 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,776,238 (GRCm39)	N610D	possibly damaging	Het
Nt5c1b	T	C	12: 10,430,882 (GRCm39)	S390P	probably damaging	Het
Or10ag53	T	A	2: 87,082,906 (GRCm39)	F208L	probably benign	Het
Pde3b	A	G	7: 114,122,621 (GRCm39)	T730A	probably damaging	Het
Pla2g15	C	T	8: 106,877,201 (GRCm39)	A28V	probably benign	Het
Pmfbp1	A	T	8: 110,268,474 (GRCm39)	D1007V	probably damaging	Het
Polr1a	T	A	6: 71,901,683 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,721,891 (GRCm39)	K312E	probably benign	Het
Prmt5	G	A	14: 54,749,583 (GRCm39)	T269I	probably benign	Het
Pwp2	A	G	10: 78,009,540 (GRCm39)	S793P	probably benign	Het
Rbm12b1	C	A	4: 12,146,181 (GRCm39)	H718N	probably benign	Het
Rfx1	T	A	8: 84,817,662 (GRCm39)	M512K	possibly damaging	Het
Rp1	T	C	1: 4,416,789 (GRCm39)	E1441G	probably damaging	Het
Slc16a6	C	T	11: 109,350,634 (GRCm39)	V207I	probably benign	Het
Slc6a9	G	A	4: 117,706,596 (GRCm39)	R7H	possibly damaging	Het
Sptlc1	A	T	13: 53,528,047 (GRCm39)	V39D	probably benign	Het
Strc	A	T	2: 121,211,336 (GRCm39)	L3Q	unknown	Het
Svep1	C	T	4: 58,120,565 (GRCm39)	E823K	possibly damaging	Het
Tat	A	G	8: 110,725,031 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,968,800 (GRCm39)	N190K	possibly damaging	Het
Tomt	T	C	7: 101,549,826 (GRCm39)	E154G	probably damaging	Het
Topaz1	T	A	9: 122,617,887 (GRCm39)	V1228E	possibly damaging	Het
Trim55	G	A	3: 19,727,153 (GRCm39)	V407M	probably benign	Het
Ttll5	T	A	12: 85,873,338 (GRCm39)	M5K	possibly damaging	Het
Ugt2a2	A	C	5: 87,609,940 (GRCm39)	Y380*	probably null	Het
Usp46	A	G	5: 74,163,922 (GRCm39)	Y272H	probably benign	Het
Vps39	A	T	2: 120,151,525 (GRCm39)		probably benign	Het
Zfp12	T	A	5: 143,230,421 (GRCm39)	H281Q	probably damaging	Het
Zfp142	C	A	1: 74,606,302 (GRCm39)	R1756L	probably damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	possibly damaging	Het

Other mutations in Pdzd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Pdzd2	APN	15	12,458,069 (GRCm39)	missense	possibly damaging	0.93
IGL00586:Pdzd2	APN	15	12,365,853 (GRCm39)	splice site	probably null
IGL00697:Pdzd2	APN	15	12,373,733 (GRCm39)	missense	possibly damaging	0.81
IGL00721:Pdzd2	APN	15	12,374,498 (GRCm39)	missense	probably benign	0.00
IGL00971:Pdzd2	APN	15	12,374,804 (GRCm39)	missense	probably benign	0.00
IGL01066:Pdzd2	APN	15	12,402,718 (GRCm39)	unclassified	probably benign
IGL01389:Pdzd2	APN	15	12,374,712 (GRCm39)	missense	possibly damaging	0.56
IGL01505:Pdzd2	APN	15	12,458,293 (GRCm39)	missense	probably damaging	1.00
IGL01527:Pdzd2	APN	15	12,445,750 (GRCm39)	missense	probably damaging	1.00
IGL01584:Pdzd2	APN	15	12,592,569 (GRCm39)	missense	probably damaging	1.00
IGL01763:Pdzd2	APN	15	12,372,632 (GRCm39)	missense	probably benign
IGL01915:Pdzd2	APN	15	12,371,725 (GRCm39)	missense	probably damaging	1.00
IGL01947:Pdzd2	APN	15	12,592,440 (GRCm39)	missense	probably damaging	1.00
IGL02058:Pdzd2	APN	15	12,376,382 (GRCm39)	missense	possibly damaging	0.87
IGL02274:Pdzd2	APN	15	12,445,735 (GRCm39)	missense	probably damaging	1.00
IGL02408:Pdzd2	APN	15	12,375,851 (GRCm39)	missense	probably benign	0.00
IGL02600:Pdzd2	APN	15	12,411,105 (GRCm39)	missense	probably damaging	1.00
IGL02637:Pdzd2	APN	15	12,385,720 (GRCm39)	missense	probably benign	0.13
IGL02639:Pdzd2	APN	15	12,592,329 (GRCm39)	missense	probably damaging	1.00
IGL02712:Pdzd2	APN	15	12,376,113 (GRCm39)	missense	probably benign	0.00
IGL02967:Pdzd2	APN	15	12,374,427 (GRCm39)	missense	probably benign	0.04
IGL02992:Pdzd2	APN	15	12,382,708 (GRCm39)	missense	possibly damaging	0.77
IGL03005:Pdzd2	APN	15	12,385,351 (GRCm39)	missense	probably damaging	1.00
IGL03067:Pdzd2	APN	15	12,388,628 (GRCm39)	critical splice donor site	probably null
IGL03335:Pdzd2	APN	15	12,373,850 (GRCm39)	missense	probably benign	0.00
PIT4280001:Pdzd2	UTSW	15	12,399,374 (GRCm39)	missense	probably damaging	1.00
R0022:Pdzd2	UTSW	15	12,371,691 (GRCm39)	missense	possibly damaging	0.94
R0241:Pdzd2	UTSW	15	12,368,027 (GRCm39)	missense	probably damaging	1.00
R0241:Pdzd2	UTSW	15	12,368,027 (GRCm39)	missense	probably damaging	1.00
R0446:Pdzd2	UTSW	15	12,375,110 (GRCm39)	missense	probably benign	0.43
R0462:Pdzd2	UTSW	15	12,592,246 (GRCm39)	missense	probably damaging	1.00
R0562:Pdzd2	UTSW	15	12,592,364 (GRCm39)	missense	probably damaging	1.00
R0589:Pdzd2	UTSW	15	12,376,385 (GRCm39)	missense	probably benign	0.03
R0639:Pdzd2	UTSW	15	12,458,144 (GRCm39)	missense	possibly damaging	0.77
R0925:Pdzd2	UTSW	15	12,399,356 (GRCm39)	missense	probably damaging	1.00
R1015:Pdzd2	UTSW	15	12,374,594 (GRCm39)	missense	probably damaging	1.00
R1054:Pdzd2	UTSW	15	12,371,725 (GRCm39)	missense	probably damaging	1.00
R1070:Pdzd2	UTSW	15	12,390,052 (GRCm39)	critical splice donor site	probably null
R1099:Pdzd2	UTSW	15	12,373,173 (GRCm39)	missense	probably damaging	1.00
R1122:Pdzd2	UTSW	15	12,457,981 (GRCm39)	missense	probably benign	0.25
R1126:Pdzd2	UTSW	15	12,458,306 (GRCm39)	missense	possibly damaging	0.94
R1381:Pdzd2	UTSW	15	12,385,525 (GRCm39)	missense	probably benign	0.02
R1385:Pdzd2	UTSW	15	12,411,108 (GRCm39)	missense	probably benign	0.38
R1513:Pdzd2	UTSW	15	12,373,915 (GRCm39)	missense	possibly damaging	0.88
R1538:Pdzd2	UTSW	15	12,373,047 (GRCm39)	missense	probably damaging	1.00
R1750:Pdzd2	UTSW	15	12,385,950 (GRCm39)	missense	probably damaging	1.00
R1775:Pdzd2	UTSW	15	12,592,546 (GRCm39)	missense	probably damaging	1.00
R1801:Pdzd2	UTSW	15	12,387,740 (GRCm39)	missense	possibly damaging	0.56
R1832:Pdzd2	UTSW	15	12,390,134 (GRCm39)	missense	probably damaging	1.00
R1856:Pdzd2	UTSW	15	12,373,941 (GRCm39)	missense	possibly damaging	0.87
R1870:Pdzd2	UTSW	15	12,457,972 (GRCm39)	missense	probably damaging	1.00
R1879:Pdzd2	UTSW	15	12,373,986 (GRCm39)	missense	possibly damaging	0.61
R2072:Pdzd2	UTSW	15	12,385,905 (GRCm39)	missense	probably damaging	1.00
R2073:Pdzd2	UTSW	15	12,385,905 (GRCm39)	missense	probably damaging	1.00
R2075:Pdzd2	UTSW	15	12,385,905 (GRCm39)	missense	probably damaging	1.00
R2125:Pdzd2	UTSW	15	12,373,676 (GRCm39)	missense	probably benign	0.37
R2142:Pdzd2	UTSW	15	12,406,645 (GRCm39)	missense	probably damaging	1.00
R2155:Pdzd2	UTSW	15	12,375,879 (GRCm39)	missense	probably benign	0.43
R2282:Pdzd2	UTSW	15	12,373,934 (GRCm39)	missense	possibly damaging	0.95
R2407:Pdzd2	UTSW	15	12,373,247 (GRCm39)	missense	probably damaging	1.00
R3545:Pdzd2	UTSW	15	12,375,557 (GRCm39)	missense	probably benign	0.00
R3878:Pdzd2	UTSW	15	12,376,262 (GRCm39)	missense	probably benign	0.00
R3879:Pdzd2	UTSW	15	12,375,594 (GRCm39)	missense	probably damaging	1.00
R4396:Pdzd2	UTSW	15	12,387,732 (GRCm39)	missense	probably benign	0.36
R4398:Pdzd2	UTSW	15	12,376,061 (GRCm39)	missense	probably benign	0.30
R4491:Pdzd2	UTSW	15	12,385,723 (GRCm39)	missense	possibly damaging	0.75
R4492:Pdzd2	UTSW	15	12,419,567 (GRCm39)	missense	possibly damaging	0.48
R4492:Pdzd2	UTSW	15	12,385,723 (GRCm39)	missense	possibly damaging	0.75
R4656:Pdzd2	UTSW	15	12,385,797 (GRCm39)	missense	probably benign	0.00
R4715:Pdzd2	UTSW	15	12,419,602 (GRCm39)	missense	possibly damaging	0.72
R4803:Pdzd2	UTSW	15	12,374,681 (GRCm39)	missense	probably benign	0.04
R4893:Pdzd2	UTSW	15	12,385,429 (GRCm39)	missense	probably benign	0.00
R4959:Pdzd2	UTSW	15	12,375,734 (GRCm39)	missense	probably damaging	1.00
R4973:Pdzd2	UTSW	15	12,375,734 (GRCm39)	missense	probably damaging	1.00
R5030:Pdzd2	UTSW	15	12,592,494 (GRCm39)	nonsense	probably null
R5174:Pdzd2	UTSW	15	12,372,600 (GRCm39)	missense	probably benign	0.01
R5230:Pdzd2	UTSW	15	12,390,119 (GRCm39)	missense	probably damaging	1.00
R5256:Pdzd2	UTSW	15	12,373,028 (GRCm39)	missense	possibly damaging	0.87
R5268:Pdzd2	UTSW	15	12,592,263 (GRCm39)	missense	probably damaging	1.00
R5488:Pdzd2	UTSW	15	12,382,762 (GRCm39)	missense	probably benign	0.00
R5489:Pdzd2	UTSW	15	12,382,762 (GRCm39)	missense	probably benign	0.00
R5588:Pdzd2	UTSW	15	12,374,367 (GRCm39)	missense	possibly damaging	0.48
R5605:Pdzd2	UTSW	15	12,592,436 (GRCm39)	nonsense	probably null
R5704:Pdzd2	UTSW	15	12,385,761 (GRCm39)	missense	probably benign	0.02
R5858:Pdzd2	UTSW	15	12,442,675 (GRCm39)	missense	probably damaging	0.97
R6048:Pdzd2	UTSW	15	12,592,656 (GRCm39)	splice site	probably null
R6222:Pdzd2	UTSW	15	12,374,652 (GRCm39)	missense	probably damaging	1.00
R6311:Pdzd2	UTSW	15	12,458,274 (GRCm39)	missense	probably damaging	1.00
R6734:Pdzd2	UTSW	15	12,592,551 (GRCm39)	missense	probably damaging	1.00
R6897:Pdzd2	UTSW	15	12,385,951 (GRCm39)	missense	probably damaging	1.00
R6900:Pdzd2	UTSW	15	12,374,123 (GRCm39)	missense	probably benign
R6955:Pdzd2	UTSW	15	12,401,550 (GRCm39)	missense	probably damaging	1.00
R6959:Pdzd2	UTSW	15	12,375,993 (GRCm39)	missense	probably benign	0.17
R6992:Pdzd2	UTSW	15	12,457,945 (GRCm39)	missense	probably damaging	1.00
R7014:Pdzd2	UTSW	15	12,373,061 (GRCm39)	missense	probably benign	0.14
R7014:Pdzd2	UTSW	15	12,372,647 (GRCm39)	missense	probably benign	0.13
R7110:Pdzd2	UTSW	15	12,368,099 (GRCm39)	missense	probably damaging	1.00
R7180:Pdzd2	UTSW	15	12,376,209 (GRCm39)	missense	probably damaging	0.99
R7228:Pdzd2	UTSW	15	12,458,231 (GRCm39)	nonsense	probably null
R7228:Pdzd2	UTSW	15	12,373,059 (GRCm39)	missense	probably benign	0.01
R7317:Pdzd2	UTSW	15	12,592,329 (GRCm39)	missense	probably damaging	1.00
R7322:Pdzd2	UTSW	15	12,437,248 (GRCm39)	missense	probably damaging	1.00
R7349:Pdzd2	UTSW	15	12,399,291 (GRCm39)	missense	probably damaging	1.00
R7600:Pdzd2	UTSW	15	12,372,820 (GRCm39)	missense	probably damaging	1.00
R7663:Pdzd2	UTSW	15	12,373,289 (GRCm39)	missense	probably damaging	1.00
R7712:Pdzd2	UTSW	15	12,407,422 (GRCm39)	missense	probably damaging	1.00
R7716:Pdzd2	UTSW	15	12,373,460 (GRCm39)	missense	possibly damaging	0.63
R7740:Pdzd2	UTSW	15	12,374,102 (GRCm39)	missense	probably benign	0.00
R7748:Pdzd2	UTSW	15	12,385,872 (GRCm39)	missense	possibly damaging	0.60
R8017:Pdzd2	UTSW	15	12,373,122 (GRCm39)	missense	probably damaging	1.00
R8019:Pdzd2	UTSW	15	12,373,122 (GRCm39)	missense	probably damaging	1.00
R8108:Pdzd2	UTSW	15	12,373,592 (GRCm39)	missense	probably benign	0.01
R8109:Pdzd2	UTSW	15	12,373,592 (GRCm39)	missense	probably benign	0.01
R8110:Pdzd2	UTSW	15	12,373,592 (GRCm39)	missense	probably benign	0.01
R8111:Pdzd2	UTSW	15	12,373,592 (GRCm39)	missense	probably benign	0.01
R8145:Pdzd2	UTSW	15	12,407,458 (GRCm39)	missense	probably benign	0.37
R8220:Pdzd2	UTSW	15	12,592,249 (GRCm39)	missense	probably damaging	0.99
R8278:Pdzd2	UTSW	15	12,375,995 (GRCm39)	missense	probably benign
R8768:Pdzd2	UTSW	15	12,437,252 (GRCm39)	missense	probably damaging	1.00
R8879:Pdzd2	UTSW	15	12,402,405 (GRCm39)	missense	probably damaging	1.00
R9019:Pdzd2	UTSW	15	12,375,612 (GRCm39)	missense	probably damaging	1.00
R9030:Pdzd2	UTSW	15	12,374,385 (GRCm39)	missense	probably benign	0.02
R9061:Pdzd2	UTSW	15	12,374,753 (GRCm39)	missense	possibly damaging	0.94
R9321:Pdzd2	UTSW	15	12,386,023 (GRCm39)	missense	probably benign	0.00
R9421:Pdzd2	UTSW	15	12,375,114 (GRCm39)	missense
R9515:Pdzd2	UTSW	15	12,374,621 (GRCm39)	missense	probably damaging	1.00
R9592:Pdzd2	UTSW	15	12,458,106 (GRCm39)	missense	probably damaging	1.00
R9614:Pdzd2	UTSW	15	12,375,486 (GRCm39)	missense	probably damaging	1.00
R9630:Pdzd2	UTSW	15	12,374,443 (GRCm39)	missense	probably benign	0.37
R9776:Pdzd2	UTSW	15	12,457,909 (GRCm39)	missense	probably benign	0.03
X0057:Pdzd2	UTSW	15	12,411,113 (GRCm39)	missense	probably damaging	1.00
X0063:Pdzd2	UTSW	15	12,368,805 (GRCm39)	missense	possibly damaging	0.77
X0066:Pdzd2	UTSW	15	12,372,942 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCTATATTGGTCCTCGATGCG -3'
(R):5'- CAGGAAGTCCTTGCCTTCAC -3'

Sequencing Primer
(F):5'- TCCTCGATGCGGAGGGAC -3'
(R):5'- AGGCTGCCCATAAAATGCTTTC -3'

Posted On

2022-03-25