Mutagenetix > Incidental Mutation

Incidental Mutation 'R5633:Zpbp2'

439992

Institutional Source

Beutler Lab

Gene Symbol

Zpbp2

Ensembl Gene

ENSMUSG00000017195

Gene Name

zona pellucida binding protein 2

Synonyms

1700017D11Rik

MMRRC Submission

043284-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98441923-98449491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98445584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 150 (I150T)

Ref Sequence

ENSEMBL: ENSMUSP00000103135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017339] [ENSMUST00000081033] [ENSMUST00000107509] [ENSMUST00000107511] [ENSMUST00000107513]

AlphaFold

Q6X786

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017339
AA Change: I204T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000017339
Gene: ENSMUSG00000017195
AA Change: I204T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sp38	55	326	9.6e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081033

SMART Domains

Protein: ENSMUSP00000079822
Gene: ENSMUSG00000017195

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sp38	55	135	2e-35	PFAM
Pfam:Sp38	134	253	1.4e-60	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107509
AA Change: I150T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103133
Gene: ENSMUSG00000017195
AA Change: I150T

Domain	Start	End	E-Value	Type
Pfam:Sp38	1	272	1.1e-141	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107511
AA Change: I150T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103135
Gene: ENSMUSG00000017195
AA Change: I150T

Domain	Start	End	E-Value	Type
Pfam:Sp38	1	272	1.1e-141	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107513
AA Change: I182T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103137
Gene: ENSMUSG00000017195
AA Change: I182T

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Sp38	33	304	4.5e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126236

Meta Mutation Damage Score

0.4550

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

MGI Phenotype

PHENOTYPE: Male mice homozygous for a null mutation display reduced fecundity, mild teratozoospermia, and delayed fertilization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,344,598 (GRCm39)	C125S	probably benign	Het
Abcb8	T	C	5: 24,608,107 (GRCm39)	L382P	probably damaging	Het
Acot3	A	G	12: 84,105,724 (GRCm39)		probably null	Het
Acsl6	A	T	11: 54,228,015 (GRCm39)	Q345L	probably benign	Het
Adcy8	A	G	15: 64,571,134 (GRCm39)	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,457,022 (GRCm39)	D182A	probably damaging	Het
B3galt5	A	T	16: 96,116,709 (GRCm39)	H114L	probably benign	Het
Bcas2	T	A	3: 103,085,740 (GRCm39)	Y207*	probably null	Het
Best1	A	G	19: 9,969,467 (GRCm39)	L197P	probably benign	Het
Chil6	C	A	3: 106,296,068 (GRCm39)	C389F	probably damaging	Het
Chrna4	T	C	2: 180,671,253 (GRCm39)	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,194,110 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,160 (GRCm39)	L441P	probably damaging	Het
Dmtn	T	C	14: 70,842,419 (GRCm39)	M365V	probably benign	Het
Dmxl1	T	A	18: 50,010,764 (GRCm39)	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,156,626 (GRCm39)	D150G	probably benign	Het
Eef2k	C	A	7: 120,472,513 (GRCm39)		probably benign	Het
Elp2	T	A	18: 24,748,267 (GRCm39)	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,241 (GRCm39)		probably null	Het
Gm11559	C	A	11: 99,755,412 (GRCm39)	C20*	probably null	Het
Gnb2	T	C	5: 137,527,454 (GRCm39)	I213V	probably benign	Het
Gnb5	C	T	9: 75,251,796 (GRCm39)	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257 (GRCm39)	I303N	possibly damaging	Het
Idh1	A	G	1: 65,204,295 (GRCm39)	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,578,256 (GRCm39)	Q273*	probably null	Het
Itpkb	A	T	1: 180,154,790 (GRCm39)	⇒1	probably benign	Het
Kntc1	C	T	5: 123,957,120 (GRCm39)	T2143I	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,787,943 (GRCm39)	D464E	possibly damaging	Het
Med13	A	G	11: 86,169,757 (GRCm39)		probably benign	Het
Mn1	T	C	5: 111,568,192 (GRCm39)	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,775,467 (GRCm39)	L1026Q	possibly damaging	Het
Or6c204	A	T	10: 129,022,718 (GRCm39)	F191I	probably benign	Het
P4htm	A	C	9: 108,456,922 (GRCm39)	D428E	probably damaging	Het
Parp8	C	T	13: 117,013,116 (GRCm39)	R602H	probably damaging	Het
Pkd2	T	A	5: 104,646,372 (GRCm39)	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,746,500 (GRCm39)	I359T	probably benign	Het
Rassf6	T	C	5: 90,751,977 (GRCm39)	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,450,915 (GRCm39)	I413T	probably damaging	Het
Rpn2	T	A	2: 157,125,516 (GRCm39)	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,064,390 (GRCm39)	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,774,325 (GRCm39)	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,260,087 (GRCm39)	P163Q	probably damaging	Het
Smc4	T	A	3: 68,915,443 (GRCm39)	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455 (GRCm39)	I439K	probably benign	Het
Syt9	C	T	7: 107,024,503 (GRCm39)	T132I	probably damaging	Het
Timd6	C	T	11: 46,465,433 (GRCm39)	S9L	unknown	Het
Trpm2	T	C	10: 77,774,187 (GRCm39)	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,361 (GRCm39)	M358T	probably benign	Het
Vmn1r91	A	T	7: 19,835,870 (GRCm39)	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,579,169 (GRCm39)	D648G	probably benign	Het

Other mutations in Zpbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Zpbp2	APN	11	98,448,418 (GRCm39)	missense	probably damaging	1.00
IGL02127:Zpbp2	APN	11	98,446,367 (GRCm39)	missense	probably damaging	0.97
IGL02612:Zpbp2	APN	11	98,446,343 (GRCm39)	missense	probably benign	0.01
R0709:Zpbp2	UTSW	11	98,444,763 (GRCm39)	missense	probably damaging	1.00
R0959:Zpbp2	UTSW	11	98,448,451 (GRCm39)	missense	probably benign	0.16
R1445:Zpbp2	UTSW	11	98,444,670 (GRCm39)	missense	probably damaging	1.00
R2032:Zpbp2	UTSW	11	98,445,534 (GRCm39)	missense	probably damaging	1.00
R3621:Zpbp2	UTSW	11	98,443,382 (GRCm39)	missense	probably benign	0.08
R4328:Zpbp2	UTSW	11	98,448,432 (GRCm39)	missense	probably benign	0.06
R4685:Zpbp2	UTSW	11	98,442,117 (GRCm39)	intron	probably benign
R4957:Zpbp2	UTSW	11	98,442,150 (GRCm39)	critical splice donor site	probably null
R5395:Zpbp2	UTSW	11	98,449,039 (GRCm39)	missense	probably damaging	1.00
R5455:Zpbp2	UTSW	11	98,448,429 (GRCm39)	missense	probably benign	0.31
R5792:Zpbp2	UTSW	11	98,442,236 (GRCm39)	intron	probably benign
R5837:Zpbp2	UTSW	11	98,442,097 (GRCm39)	start gained	probably benign
R7073:Zpbp2	UTSW	11	98,443,335 (GRCm39)	missense	probably damaging	1.00
R8879:Zpbp2	UTSW	11	98,445,446 (GRCm39)	missense	probably benign	0.05
R9234:Zpbp2	UTSW	11	98,443,398 (GRCm39)	missense	probably damaging	0.96
R9348:Zpbp2	UTSW	11	98,442,141 (GRCm39)	intron	probably benign
R9358:Zpbp2	UTSW	11	98,444,774 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CGTTTTACCACAGGATCTTGTG -3'
(R):5'- GACATCTCGTGTTTATATGGCG -3'

Sequencing Primer
(F):5'- TTACCACAGGATCTTGTGTAGGAAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2016-11-08