Mutagenetix > Incidental Mutation

Incidental Mutation 'R4893:Pdzd2'

377429

Institutional Source

Beutler Lab

Gene Symbol

Pdzd2

Ensembl Gene

ENSMUSG00000022197

Gene Name

PDZ domain containing 2

Synonyms

Gm21706, A930022H17Rik, Pdzk3, 4930537L06Rik, LOC223364

MMRRC Submission

042498-MU

Accession Numbers

Essential gene?

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

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12359797-12740010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12385429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1114 (T1114A)

Ref Sequence

ENSEMBL: ENSMUSP00000074788 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075317
AA Change: T1114A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: T1114A

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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,904 (GRCm39)	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Acss1	C	A	2: 150,471,786 (GRCm39)	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,405,476 (GRCm39)	D286A	probably benign	Het
Akap5	T	C	12: 76,376,743 (GRCm39)	V718A	probably damaging	Het
Ankk1	A	G	9: 49,326,983 (GRCm39)	V732A	probably benign	Het
Antxr2	T	A	5: 98,151,931 (GRCm39)	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,708,876 (GRCm39)	F1063V	probably benign	Het
Ascl5	A	T	1: 135,978,917 (GRCm39)	I126F	probably damaging	Het
Aspm	T	A	1: 139,417,577 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,867,586 (GRCm39)	S100P	probably damaging	Het
Baz2a	C	A	10: 127,959,284 (GRCm39)	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,489,212 (GRCm39)		probably benign	Het
Celsr3	C	G	9: 108,726,620 (GRCm39)	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,630,934 (GRCm39)	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,207,104 (GRCm39)	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,718,372 (GRCm39)		probably benign	Het
Cstf1	C	T	2: 172,222,444 (GRCm39)	R401C	probably damaging	Het
Cul3	A	G	1: 80,266,567 (GRCm39)	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,088,776 (GRCm39)	D124G	probably damaging	Het
Dnah12	A	G	14: 26,431,325 (GRCm39)	D381G	possibly damaging	Het
Dtna	T	C	18: 23,702,724 (GRCm39)	L85P	probably damaging	Het
Ephb2	A	G	4: 136,387,064 (GRCm39)	I722T	probably damaging	Het
Epn3	A	T	11: 94,382,822 (GRCm39)	F421I	probably damaging	Het
Fam83f	T	A	15: 80,576,156 (GRCm39)	L269H	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Gata4	G	A	14: 63,439,045 (GRCm39)	A139V	probably benign	Het
Glce	T	C	9: 61,975,777 (GRCm39)	D241G	probably benign	Het
Gm17728	A	T	17: 9,641,063 (GRCm39)	I58F	probably benign	Het
Inhba	A	T	13: 16,201,134 (GRCm39)	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,229,021 (GRCm39)	R394L	probably benign	Het
Klhl14	T	C	18: 21,690,992 (GRCm39)	Y486C	probably damaging	Het
Krt1	A	G	15: 101,758,555 (GRCm39)	I203T	probably damaging	Het
Lims2	T	C	18: 32,074,864 (GRCm39)		probably null	Het
Lrrc31	T	G	3: 30,733,446 (GRCm39)	I423L	probably benign	Het
Map7d1	C	T	4: 126,127,015 (GRCm39)	D732N	unknown	Het
Mau2	A	T	8: 70,483,290 (GRCm39)		probably null	Het
Mbtps1	G	A	8: 120,244,932 (GRCm39)	R840W	probably damaging	Het
Morn3	T	C	5: 123,175,745 (GRCm39)	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,755,582 (GRCm39)	K63E	probably damaging	Het
Muc20	T	C	16: 32,615,042 (GRCm39)	T112A	possibly damaging	Het
Myo6	T	A	9: 80,136,159 (GRCm39)	L94Q	probably damaging	Het
Nos1	C	A	5: 118,090,942 (GRCm39)	T1423K	possibly damaging	Het
Or2l13	A	G	16: 19,305,653 (GRCm39)	T22A	probably benign	Het
Or2t1	T	C	14: 14,328,852 (GRCm38)	V247A	probably damaging	Het
Pgm2	T	C	5: 64,263,283 (GRCm39)	V310A	probably benign	Het
Pi4ka	T	C	16: 17,194,900 (GRCm39)	E166G	probably benign	Het
Pign	A	T	1: 105,574,436 (GRCm39)	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,415,053 (GRCm39)	V149L	probably benign	Het
Pkd1l3	A	T	8: 110,365,026 (GRCm39)	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,142,210 (GRCm39)	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,759,853 (GRCm39)	Q355K	probably benign	Het
Pnpla7	T	A	2: 24,943,688 (GRCm39)	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,246,170 (GRCm39)	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,321,382 (GRCm39)	S544T	probably damaging	Het
Pusl1	G	A	4: 155,973,998 (GRCm39)	T252I	probably benign	Het
Rnf44	A	G	13: 54,829,745 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,145 (GRCm39)	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,285,697 (GRCm39)		probably null	Het
Sox8	T	C	17: 25,787,963 (GRCm39)	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,992 (GRCm39)		probably null	Het
Taar6	T	C	10: 23,861,298 (GRCm39)	I83V	probably benign	Het
Tes	T	A	6: 17,104,595 (GRCm39)	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,676 (GRCm39)	L435H	probably damaging	Het
Zfhx3	G	T	8: 109,683,639 (GRCm39)	D3693Y	unknown	Het
Zfp931	G	A	2: 177,709,996 (GRCm39)	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,628 (GRCm39)	V95G	unknown	Het
Zw10	A	G	9: 48,985,325 (GRCm39)	E587G	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
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
R9302:Pdzd2	UTSW	15	12,374,342 (GRCm39)	missense	possibly damaging	0.61
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'- AGTCAGCTACCTTCTCTGCAG -3'
(R):5'- GCTAGACTCAGAGCACAGCATC -3'

Sequencing Primer
(F):5'- AGTTCCACCTGGCTGATGAC -3'
(R):5'- AGAGCACAGCATCCACGGTG -3'

Posted On

2016-03-17