Mutagenetix > Incidental Mutation

Incidental Mutation 'R9348:Zpbp2'

707934

Institutional Source

Beutler Lab

Gene Symbol

Zpbp2

Ensembl Gene

ENSMUSG00000017195

Gene Name

zona pellucida binding protein 2

Synonyms

1700017D11Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9348 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98441923-98449491 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 98442141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103135 (fasta)

Gene Model

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

AlphaFold

Q6X786

Predicted Effect

silent
Transcript: ENSMUST00000017339

SMART Domains

Protein: ENSMUSP00000017339
Gene: ENSMUSG00000017195

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

Predicted Effect

silent
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 benign
Transcript: ENSMUST00000107509

SMART Domains

Protein: ENSMUSP00000103133
Gene: ENSMUSG00000017195

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107511

SMART Domains

Protein: ENSMUSP00000103135
Gene: ENSMUSG00000017195

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

Predicted Effect

silent
Transcript: ENSMUST00000107513

SMART Domains

Protein: ENSMUSP00000103137
Gene: ENSMUSG00000017195

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	C	T	8: 41,208,953 (GRCm39)	P740S	probably benign	Het
Arfgef1	G	T	1: 10,283,419 (GRCm39)	H163Q	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp6v1h	T	A	1: 5,187,699 (GRCm39)	D222E	probably damaging	Het
Auts2	T	C	5: 131,490,155 (GRCm39)	T165A		Het
BC034090	A	G	1: 155,099,049 (GRCm39)	S579P	probably benign	Het
Bpifb9b	T	A	2: 154,160,766 (GRCm39)	S546T	probably benign	Het
C4b	C	T	17: 34,952,159 (GRCm39)	V1229I	probably benign	Het
Cadps2	T	C	6: 23,344,262 (GRCm39)	D895G	probably benign	Het
Cby2	A	G	14: 75,820,838 (GRCm39)	S296P	probably damaging	Het
Cep112	T	C	11: 108,328,076 (GRCm39)	S51P	probably damaging	Het
Cep164	T	C	9: 45,717,708 (GRCm39)	H545R	unknown	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Crlf1	T	A	8: 70,951,316 (GRCm39)	I65K	probably benign	Het
Crybg3	T	C	16: 59,421,256 (GRCm39)	M1V	probably null	Het
Cyb5d1	T	A	11: 69,285,830 (GRCm39)	I69L	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,337 (GRCm39)	D213G	probably benign	Het
Dennd5a	C	G	7: 109,498,930 (GRCm39)		probably null	Het
Dennd5a	T	A	7: 109,498,942 (GRCm39)	M998L	probably benign	Het
E2f1	T	A	2: 154,402,755 (GRCm39)	E382D	probably benign	Het
Enpep	T	A	3: 129,102,772 (GRCm39)	T395S	probably benign	Het
Gm20939	A	G	17: 95,182,977 (GRCm39)	E71G	probably damaging	Het
Hs1bp3	T	A	12: 8,386,273 (GRCm39)	V225E	probably benign	Het
Icam5	T	C	9: 20,943,427 (GRCm39)	M1T	probably null	Het
Ifi205	T	C	1: 173,844,997 (GRCm39)	I262V	probably benign	Het
Iqce	T	C	5: 140,677,380 (GRCm39)	Y147C	probably damaging	Het
Kcnh2	C	T	5: 24,538,003 (GRCm39)	G120E	probably damaging	Het
Kif3c	A	G	12: 3,417,505 (GRCm39)	T509A	probably benign	Het
Napepld	A	T	5: 21,875,490 (GRCm39)	N351K	probably benign	Het
Ndufaf3	C	A	9: 108,443,357 (GRCm39)		probably null	Het
Nlrp9b	C	T	7: 19,757,336 (GRCm39)	T191I	probably damaging	Het
Oog2	T	C	4: 143,921,789 (GRCm39)	L233P	probably damaging	Het
Or1a1b	T	A	11: 74,097,289 (GRCm39)	Y251F	probably damaging	Het
Or2g1	T	C	17: 38,106,992 (GRCm39)	I219T	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w1	T	A	13: 21,317,131 (GRCm39)	F62Y	possibly damaging	Het
Preb	A	G	5: 31,112,995 (GRCm39)	F416L	probably benign	Het
Prickle2	C	T	6: 92,397,243 (GRCm39)	V217I	probably benign	Het
Prss45	T	A	9: 110,668,278 (GRCm39)	I157N	probably damaging	Het
Ranbp17	T	C	11: 33,429,232 (GRCm39)	T338A	probably benign	Het
Snd1	T	C	6: 28,745,206 (GRCm39)	F517S	probably damaging	Het
Srpk2	A	T	5: 23,719,671 (GRCm39)	F578I	probably damaging	Het
Stx2	A	T	5: 129,076,601 (GRCm39)	D27E	probably benign	Het
Tgfbrap1	A	G	1: 43,093,695 (GRCm39)	I599T	probably benign	Het
Trim25	G	T	11: 88,900,167 (GRCm39)	E305*	probably null	Het
Ttll7	T	A	3: 146,673,768 (GRCm39)	I821N	probably benign	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zcchc9	T	A	13: 91,954,186 (GRCm39)	D23V		Het
Zfp141	C	A	7: 42,124,814 (GRCm39)	E553*	probably null	Het
Zfyve26	T	C	12: 79,315,231 (GRCm39)	D1415G	possibly damaging	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
R5633:Zpbp2	UTSW	11	98,445,584 (GRCm39)	missense	probably damaging	1.00
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
R9358:Zpbp2	UTSW	11	98,444,774 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TTTACTCGTCACACCACCAGG -3'
(R):5'- TACCGTGCCGTAAACAAAGC -3'

Sequencing Primer
(F):5'- ACCAGGCCGACTAGAGCTAG -3'
(R):5'- GCCGTAAACAAAGCCTTTGATATTG -3'

Posted On

2022-04-18