Mutagenetix > Incidental Mutation

Incidental Mutation 'R1121:Zpld2'

95612

Institutional Source

Beutler Lab

Gene Symbol

Zpld2

Ensembl Gene

ENSMUSG00000073747

Gene Name

zona pellucida like domain containing 2

Synonyms

Gm7534

MMRRC Submission

039194-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133918115-133930315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133930248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 19 (D19G)

Ref Sequence

ENSEMBL: ENSMUSP00000095461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097849]

AlphaFold

Q3UU21

Predicted Effect

probably benign
Transcript: ENSMUST00000097849
AA Change: D19G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: D19G

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
internal_repeat_1	21	111	5.47e-40	PROSPERO
low complexity region	112	143	N/A	INTRINSIC
low complexity region	158	177	N/A	INTRINSIC
internal_repeat_1	181	271	5.47e-40	PROSPERO
low complexity region	322	334	N/A	INTRINSIC
ZP	368	618	3.21e-13	SMART
low complexity region	650	668	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122228

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	A	T	6: 90,566,366 (GRCm39)	I646L	probably benign	Het
Ankar	G	A	1: 72,690,822 (GRCm39)		probably null	Het
Ap3b2	T	A	7: 81,113,943 (GRCm39)	T815S	unknown	Het
Atosb	T	C	4: 43,034,947 (GRCm39)	K317E	probably damaging	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Dpysl2	C	T	14: 67,100,001 (GRCm39)	M78I	probably benign	Het
Erc2	T	C	14: 28,197,612 (GRCm39)		probably benign	Het
Fam120a	A	T	13: 49,063,913 (GRCm39)		probably null	Het
Fam98a	C	A	17: 75,845,529 (GRCm39)	G406C	unknown	Het
G6pc3	G	A	11: 102,080,768 (GRCm39)	S6N	possibly damaging	Het
Grin2d	T	G	7: 45,503,771 (GRCm39)	M655L	probably damaging	Het
Hnrnpul1	G	T	7: 25,440,332 (GRCm39)	T308K	possibly damaging	Het
Ipp	T	A	4: 116,377,872 (GRCm39)	N247K	probably benign	Het
Islr	T	C	9: 58,065,045 (GRCm39)	N154S	probably benign	Het
Itk	A	G	11: 46,222,721 (GRCm39)	Y577H	possibly damaging	Het
Micu1	C	T	10: 59,624,804 (GRCm39)	T282I	possibly damaging	Het
Or6d14	T	G	6: 116,534,190 (GRCm39)	V268G	probably damaging	Het
Pcdhb14	T	A	18: 37,582,645 (GRCm39)	Y584N	probably damaging	Het
Pnlip	A	G	19: 58,669,340 (GRCm39)		probably null	Het
Ppip5k2	A	T	1: 97,684,585 (GRCm39)	Y129N	probably damaging	Het
Prtg	T	G	9: 72,813,449 (GRCm39)	H936Q	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Spef1l	T	A	7: 139,556,543 (GRCm39)	D148V	probably benign	Het
Sptbn5	T	A	2: 119,899,871 (GRCm39)		probably null	Het
Thnsl1	A	G	2: 21,216,975 (GRCm39)	D243G	probably benign	Het
Ugt2a3	A	T	5: 87,475,548 (GRCm39)	D361E	probably damaging	Het
Uhrf1	T	A	17: 56,619,917 (GRCm39)	M276K	probably benign	Het
Vmn1r26	T	C	6: 57,985,647 (GRCm39)	T181A	probably benign	Het
Vwa7	T	A	17: 35,236,770 (GRCm39)	N112K	probably damaging	Het
Xkr7	C	T	2: 152,896,343 (GRCm39)	T399I	probably damaging	Het

Other mutations in Zpld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Zpld2	APN	4	133,929,291 (GRCm39)	missense	probably benign	0.27
IGL03170:Zpld2	APN	4	133,920,345 (GRCm39)	missense	possibly damaging	0.57
FR4342:Zpld2	UTSW	4	133,929,942 (GRCm39)	small insertion	probably benign
FR4976:Zpld2	UTSW	4	133,929,941 (GRCm39)	small insertion	probably benign
R0487:Zpld2	UTSW	4	133,930,089 (GRCm39)	missense	probably damaging	0.97
R0530:Zpld2	UTSW	4	133,930,221 (GRCm39)	missense	probably benign
R0553:Zpld2	UTSW	4	133,929,829 (GRCm39)	missense	possibly damaging	0.85
R1458:Zpld2	UTSW	4	133,924,144 (GRCm39)	missense	probably benign	0.01
R1748:Zpld2	UTSW	4	133,929,430 (GRCm39)	missense	possibly damaging	0.57
R1748:Zpld2	UTSW	4	133,927,610 (GRCm39)	missense	probably damaging	1.00
R1913:Zpld2	UTSW	4	133,919,986 (GRCm39)	critical splice donor site	probably null
R2029:Zpld2	UTSW	4	133,929,669 (GRCm39)	missense	possibly damaging	0.87
R2069:Zpld2	UTSW	4	133,929,252 (GRCm39)	missense	possibly damaging	0.63
R2237:Zpld2	UTSW	4	133,929,516 (GRCm39)	missense	unknown
R2239:Zpld2	UTSW	4	133,929,516 (GRCm39)	missense	unknown
R3943:Zpld2	UTSW	4	133,927,656 (GRCm39)	missense	probably benign	0.15
R4646:Zpld2	UTSW	4	133,929,459 (GRCm39)	missense	probably benign	0.00
R4673:Zpld2	UTSW	4	133,927,658 (GRCm39)	missense	probably benign	0.01
R4838:Zpld2	UTSW	4	133,920,410 (GRCm39)	missense	probably benign	0.04
R5002:Zpld2	UTSW	4	133,924,231 (GRCm39)	missense	probably benign	0.09
R5593:Zpld2	UTSW	4	133,920,350 (GRCm39)	missense	probably damaging	0.99
R5606:Zpld2	UTSW	4	133,927,523 (GRCm39)	missense	probably benign	0.13
R6553:Zpld2	UTSW	4	133,929,367 (GRCm39)	missense	probably damaging	0.99
R6834:Zpld2	UTSW	4	133,920,476 (GRCm39)	missense	possibly damaging	0.95
R6931:Zpld2	UTSW	4	133,920,464 (GRCm39)	missense	probably benign	0.28
R7526:Zpld2	UTSW	4	133,927,384 (GRCm39)	splice site	probably null
R7771:Zpld2	UTSW	4	133,922,754 (GRCm39)	missense	probably benign	0.01
R8271:Zpld2	UTSW	4	133,930,278 (GRCm39)	missense	unknown
R8725:Zpld2	UTSW	4	133,930,150 (GRCm39)	missense	probably benign	0.19
R8727:Zpld2	UTSW	4	133,930,150 (GRCm39)	missense	probably benign	0.19
R8757:Zpld2	UTSW	4	133,930,282 (GRCm39)	missense	unknown
R8966:Zpld2	UTSW	4	133,929,712 (GRCm39)	missense	probably damaging	0.98
R8992:Zpld2	UTSW	4	133,929,978 (GRCm39)	missense	probably damaging	0.99
R9039:Zpld2	UTSW	4	133,922,858 (GRCm39)	missense	probably damaging	0.98
R9275:Zpld2	UTSW	4	133,922,770 (GRCm39)	missense	probably damaging	1.00
R9278:Zpld2	UTSW	4	133,922,770 (GRCm39)	missense	probably damaging	1.00
R9434:Zpld2	UTSW	4	133,929,553 (GRCm39)	missense	probably benign	0.01
R9458:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9460:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9461:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9480:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9481:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9551:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9552:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
R9553:Zpld2	UTSW	4	133,929,312 (GRCm39)	missense	probably benign	0.36
RF015:Zpld2	UTSW	4	133,920,338 (GRCm39)	missense	probably benign
T0975:Zpld2	UTSW	4	133,929,940 (GRCm39)	small insertion	probably benign
Z1176:Zpld2	UTSW	4	133,929,988 (GRCm39)	missense	probably benign
Z1176:Zpld2	UTSW	4	133,927,649 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGTGTGCCAGGTGACATACTCATTG -3'
(R):5'- AGCACAGACGGACTTAAGCGAC -3'

Sequencing Primer
(F):5'- CCTGAGTCTCAGATGTGGC -3'
(R):5'- TTAAGCGACAGCAGGACTAAACTC -3'

Posted On

2014-01-05