Mutagenetix > Incidental Mutation

Incidental Mutation 'R9039:Zpld2'

687603

Institutional Source

Beutler Lab

Gene Symbol

Zpld2

Ensembl Gene

ENSMUSG00000073747

Gene Name

zona pellucida like domain containing 2

Synonyms

Gm7534

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9039 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133918115-133930315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 133922858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 492 (V492F)

Ref Sequence

ENSEMBL: ENSMUSP00000095461 (fasta)

Gene Model

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

AlphaFold

Q3UU21

Predicted Effect

probably damaging
Transcript: ENSMUST00000097849
AA Change: V492F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: V492F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,849 (GRCm39)	V692A	possibly damaging	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Adcy10	T	C	1: 165,345,914 (GRCm39)	I321T	probably damaging	Het
Agbl2	C	T	2: 90,645,730 (GRCm39)	T821I	probably benign	Het
Alpk1	A	G	3: 127,473,192 (GRCm39)	L937P	probably damaging	Het
Atp5f1b	A	G	10: 127,919,767 (GRCm39)	D45G	probably benign	Het
C8a	C	T	4: 104,679,200 (GRCm39)	R530H	probably benign	Het
Cacna1s	T	C	1: 136,016,057 (GRCm39)	S694P	probably benign	Het
Cdca7	T	A	2: 72,312,856 (GRCm39)	D162E	probably benign	Het
Cep78	G	T	19: 15,936,907 (GRCm39)	Q600K	probably benign	Het
Cert1	C	T	13: 96,679,717 (GRCm39)	P16S	probably benign	Het
Coq8b	A	C	7: 26,950,011 (GRCm39)	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770 (GRCm39)	C202S	probably damaging	Het
Csmd3	G	T	15: 47,483,308 (GRCm39)		probably benign	Het
Cyp4a14	A	T	4: 115,344,461 (GRCm39)	V468E	probably damaging	Het
Dchs1	A	T	7: 105,405,215 (GRCm39)	D2442E	probably benign	Het
Dip2a	T	C	10: 76,163,553 (GRCm39)	Y49C	probably benign	Het
Dop1a	A	G	9: 86,382,870 (GRCm39)	R268G	probably damaging	Het
Eid3	C	T	10: 82,703,565 (GRCm39)	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,528,671 (GRCm39)	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,853,439 (GRCm39)		probably null	Het
Flg2	A	G	3: 93,110,899 (GRCm39)	R976G	unknown	Het
Fsip2	C	A	2: 82,828,545 (GRCm39)	Q6781K	probably benign	Het
Golga3	C	T	5: 110,352,799 (GRCm39)	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,244,646 (GRCm39)	V701E	probably damaging	Het
Il21	A	T	3: 37,286,602 (GRCm39)	I38N	probably benign	Het
Ip6k2	G	T	9: 108,681,807 (GRCm39)	G246V	probably damaging	Het
Ipo13	T	C	4: 117,758,185 (GRCm39)	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,703,658 (GRCm39)	N1521Y	unknown	Het
Kif2b	A	G	11: 91,467,131 (GRCm39)	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,807,988 (GRCm39)	R541L	probably damaging	Het
Lama3	T	A	18: 12,614,120 (GRCm39)	C1296*	probably null	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Mmp27	C	A	9: 7,581,250 (GRCm39)	F478L	probably benign	Het
Moxd1	T	A	10: 24,155,251 (GRCm39)		probably benign	Het
Naaa	T	A	5: 92,420,300 (GRCm39)		probably benign	Het
Nav1	T	A	1: 135,371,487 (GRCm39)	Q1746L	unknown	Het
Nedd9	T	C	13: 41,471,984 (GRCm39)	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,284,720 (GRCm39)	Y221C	probably damaging	Het
Or2q1	A	T	6: 42,794,545 (GRCm39)	I47F	probably damaging	Het
Or4c122	G	T	2: 89,079,545 (GRCm39)	F152L	probably benign	Het
Or5al6	T	C	2: 85,976,625 (GRCm39)	Y151C	probably damaging	Het
Or9m1	T	C	2: 87,733,907 (GRCm39)	T38A	probably damaging	Het
Orm3	A	G	4: 63,274,533 (GRCm39)	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,525 (GRCm39)	P241S	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,657 (GRCm39)	T949A	probably benign	Het
Prdx6	A	T	1: 161,078,619 (GRCm39)	I23N	probably damaging	Het
Prkd3	A	T	17: 79,280,003 (GRCm39)	V334E	probably benign	Het
Prr12	A	T	7: 44,684,146 (GRCm39)	D1631E	probably damaging	Het
Ptpn22	A	G	3: 103,819,551 (GRCm39)		probably benign	Het
Pum2	T	G	12: 8,794,430 (GRCm39)	D773E	probably damaging	Het
Sidt2	A	G	9: 45,856,648 (GRCm39)	C451R	probably benign	Het
Slc37a2	A	G	9: 37,148,658 (GRCm39)	S275P	probably benign	Het
Slmap	G	T	14: 26,254,519 (GRCm39)	N54K	probably benign	Het
Susd4	A	G	1: 182,681,597 (GRCm39)	D146G	probably benign	Het
Tekt3	G	A	11: 62,972,169 (GRCm39)	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,573,612 (GRCm39)	L242P	probably damaging	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Triqk	A	T	4: 12,980,490 (GRCm39)	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322 (GRCm39)	D258G	probably benign	Het
Tsc2	A	G	17: 24,826,489 (GRCm39)	V920A	probably benign	Het
Tspan17	C	T	13: 54,943,991 (GRCm39)	Q257*	probably null	Het
Tube1	T	A	10: 39,011,017 (GRCm39)	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,933,822 (GRCm39)	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,367,902 (GRCm39)	Y363*	probably null	Het
Zfp324	G	T	7: 12,705,455 (GRCm39)	G548V	probably benign	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
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
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'- GGCCTGATGGACTCTTACCT -3'
(R):5'- ATCACCTCCTACTGTCCTGG -3'

Sequencing Primer
(F):5'- CTCTCCTTCACAAAGTGATAGGTGG -3'
(R):5'- GTCCTTATTTTCCTTGGCTGCCAG -3'

Posted On

2021-11-19