Mutagenetix > Incidental Mutation

Incidental Mutation 'R2239:Zpld2'

240527

Institutional Source

Beutler Lab

Gene Symbol

Zpld2

Ensembl Gene

ENSMUSG00000073747

Gene Name

zona pellucida like domain containing 2

Synonyms

Gm7534

MMRRC Submission

040239-MU

Accession Numbers

Essential gene?

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

Stock #

R2239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133918115-133930315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 133929516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 263 (M263R)

Ref Sequence

ENSEMBL: ENSMUSP00000095461 (fasta)

Gene Model

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

AlphaFold

Q3UU21

Predicted Effect

unknown
Transcript: ENSMUST00000097849
AA Change: M263R

SMART Domains

Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: M263R

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	T	A	1: 139,384,584 (GRCm39)	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,366,822 (GRCm39)	C259R	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,092,960 (GRCm39)	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Cnnm4	T	A	1: 36,544,759 (GRCm39)	S673T	probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Dars2	T	C	1: 160,890,852 (GRCm39)	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,240,344 (GRCm39)		probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Exoc1	T	C	5: 76,707,557 (GRCm39)		probably benign	Het
Fam186a	C	T	15: 99,852,745 (GRCm39)	V158M	unknown	Het
Fryl	A	G	5: 73,265,890 (GRCm39)	L477P	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ift88	A	G	14: 57,692,961 (GRCm39)	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Map3k1	A	C	13: 111,885,478 (GRCm39)	S1480A	probably benign	Het
Map7	A	T	10: 20,154,028 (GRCm39)	N715Y	unknown	Het
Morn4	A	G	19: 42,066,471 (GRCm39)	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,314,607 (GRCm39)	D105E	probably damaging	Het
Nfasc	T	C	1: 132,510,760 (GRCm39)		probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or2aa1	A	G	11: 59,480,097 (GRCm39)	S273P	possibly damaging	Het
Or5ac23	T	A	16: 59,149,738 (GRCm39)	I45F	probably damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
P4hb	A	G	11: 120,454,108 (GRCm39)	Y329H	probably damaging	Het
Papolg	A	G	11: 23,826,378 (GRCm39)	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Pde4a	G	A	9: 21,122,564 (GRCm39)	C820Y	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Phrf1	A	G	7: 140,817,605 (GRCm39)	E138G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc16a8	T	C	15: 79,137,147 (GRCm39)	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tet1	T	C	10: 62,715,513 (GRCm39)	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,308,411 (GRCm39)	T2020K	probably benign	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	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
R1121:Zpld2	UTSW	4	133,930,248 (GRCm39)	missense	probably benign	0.00
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
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'- ACTGGTCCCGATCATAGTGG -3'
(R):5'- CTGTCATCTGGAACTGGGATAC -3'

Sequencing Primer
(F):5'- CCCGATCATAGTGGAGGATTTG -3'
(R):5'- CCGTGCCTGAGAAGTTAACTC -3'

Posted On

2014-10-15