Mutagenetix > Incidental Mutation

Incidental Mutation 'R3704:Paip2'

258678

Institutional Source

Beutler Lab

Gene Symbol

Paip2

Ensembl Gene

ENSMUSG00000037058

Gene Name

polyadenylate-binding protein-interacting protein 2

Synonyms

2310050K10Rik

MMRRC Submission

040697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35731670-35750240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35743974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 9 (T9A)

Ref Sequence

ENSEMBL: ENSMUSP00000111402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025212] [ENSMUST00000041314] [ENSMUST00000115734] [ENSMUST00000115735] [ENSMUST00000115736] [ENSMUST00000115737]

AlphaFold

Q9D6V8

Predicted Effect

probably benign
Transcript: ENSMUST00000025212

SMART Domains

Protein: ENSMUSP00000025212
Gene: ENSMUSG00000024354

Domain	Start	End	E-Value	Type
Pfam:Xan_ur_permease	50	484	4.9e-91	PFAM
transmembrane domain	496	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041314
AA Change: T9A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036021
Gene: ENSMUSG00000037058
AA Change: T9A

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	107	123	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115734
AA Change: T9A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111399
Gene: ENSMUSG00000037058
AA Change: T9A

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	107	123	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115735
AA Change: T9A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111400
Gene: ENSMUSG00000037058
AA Change: T9A

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	106	123	1.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115736
AA Change: T9A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111401
Gene: ENSMUSG00000037058
AA Change: T9A

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	107	123	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115737
AA Change: T9A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111402
Gene: ENSMUSG00000037058
AA Change: T9A

Domain	Start	End	E-Value	Type
low complexity region	38	72	N/A	INTRINSIC
Pfam:PAM2	107	123	2.4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152312

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 91.8%

Validation Efficiency

100% (49/49)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Akap13	T	C	7: 75,316,298 (GRCm39)	C585R	probably damaging	Het
Akr1b10	G	T	6: 34,371,689 (GRCm39)	D285Y	probably damaging	Het
Akr1b10	A	G	6: 34,371,690 (GRCm39)	D257G	probably benign	Het
Ankrd17	A	T	5: 90,391,828 (GRCm39)	N1838K	possibly damaging	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Brwd3	A	G	X: 107,804,021 (GRCm39)		probably benign	Het
Capn1	T	C	19: 6,057,401 (GRCm39)	E349G	probably damaging	Het
Cd27	C	T	6: 125,210,361 (GRCm39)	C222Y	probably damaging	Het
Cdh12	C	A	15: 21,583,912 (GRCm39)	T584K	probably damaging	Het
Col13a1	A	G	10: 61,703,608 (GRCm39)		probably null	Het
Col22a1	T	C	15: 71,842,156 (GRCm39)	T443A	probably damaging	Het
Crisp3	A	G	17: 40,546,848 (GRCm39)		probably benign	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Eci2	A	G	13: 35,177,216 (GRCm39)		probably benign	Het
Fat2	A	C	11: 55,200,476 (GRCm39)	F866C	probably damaging	Het
Fbxl7	C	A	15: 26,543,841 (GRCm39)	G269C	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifi35	G	A	11: 101,339,430 (GRCm39)	M1I	probably null	Het
Jarid2	A	G	13: 45,055,831 (GRCm39)	T308A	probably benign	Het
Kcnq3	A	G	15: 65,893,588 (GRCm39)		probably null	Het
Kcnt2	C	T	1: 140,461,706 (GRCm39)	T819M	probably damaging	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Mill1	A	G	7: 17,996,978 (GRCm39)	T190A	possibly damaging	Het
Mosmo	A	G	7: 120,329,828 (GRCm39)	I150V	probably damaging	Het
Nemf	C	A	12: 69,377,904 (GRCm39)	D566Y	probably damaging	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Or8b101	T	A	9: 38,020,299 (GRCm39)	F106I	possibly damaging	Het
Pde5a	T	C	3: 122,572,668 (GRCm39)	S318P	probably benign	Het
Plcd1	T	C	9: 118,905,277 (GRCm39)	I145V	possibly damaging	Het
Prl2c2	C	T	13: 13,176,810 (GRCm39)	R37H	probably damaging	Het
Raet1e	A	G	10: 22,056,744 (GRCm39)	T107A	probably benign	Het
Reps1	T	G	10: 17,983,428 (GRCm39)	F424V	probably damaging	Het
Skint6	A	T	4: 112,993,669 (GRCm39)	V401D	possibly damaging	Het
Srgn	T	C	10: 62,333,609 (GRCm39)	D56G	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Ttn	A	T	2: 76,662,124 (GRCm39)		probably benign	Het
Ugt2b37	A	T	5: 87,390,846 (GRCm39)	F340L	possibly damaging	Het
Xirp1	T	A	9: 120,016,907 (GRCm38)	Q970L	probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zmat4	A	G	8: 24,287,430 (GRCm39)	R59G	probably benign	Het

Other mutations in Paip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4983:Paip2	UTSW	18	35,746,412 (GRCm39)	missense	possibly damaging	0.90
R8803:Paip2	UTSW	18	35,749,273 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GACCTCTGGCTCTCATACATG -3'
(R):5'- ACACAGTTCAGTGCCAAGTAC -3'

Sequencing Primer
(F):5'- ATCTATACCTCAAATTTAGCCCTCAG -3'
(R):5'- CAGTTCAGTGCCAAGTACATATTTG -3'

Posted On

2015-01-23