Mutagenetix > Incidental Mutation

Incidental Mutation 'R3886:Papd5'

309652

Institutional Source

Beutler Lab

Gene Symbol

Papd5

Ensembl Gene

ENSMUSG00000036779

Gene Name

PAP associated domain containing 5

Synonyms

5730445M16Rik

MMRRC Submission

040798-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R3886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88199213-88259722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88200415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 151 (A151E)

Ref Sequence

ENSEMBL: ENSMUSP00000112766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066748] [ENSMUST00000118952] [ENSMUST00000119033]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066748
AA Change: A151E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000067971
Gene: ENSMUSG00000036779
AA Change: A151E

Domain	Start	End	E-Value	Type
low complexity region	21	47	N/A	INTRINSIC
low complexity region	83	117	N/A	INTRINSIC
low complexity region	148	162	N/A	INTRINSIC
Pfam:NTP_transf_2	206	315	1.6e-16	PFAM
Pfam:PAP_assoc	326	386	2.4e-18	PFAM
low complexity region	496	526	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118952
AA Change: A151E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112608
Gene: ENSMUSG00000036779
AA Change: A151E

Domain	Start	End	E-Value	Type
low complexity region	21	47	N/A	INTRINSIC
low complexity region	83	117	N/A	INTRINSIC
low complexity region	148	162	N/A	INTRINSIC
Pfam:NTP_transf_2	206	317	1.1e-16	PFAM
Pfam:PAP_assoc	369	429	1.1e-17	PFAM
low complexity region	539	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119033
AA Change: A151E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112766
Gene: ENSMUSG00000036779
AA Change: A151E

Domain	Start	End	E-Value	Type
low complexity region	21	47	N/A	INTRINSIC
low complexity region	83	117	N/A	INTRINSIC
low complexity region	148	162	N/A	INTRINSIC
Pfam:NTP_transf_2	206	318	4.6e-18	PFAM
Pfam:PAP_assoc	369	429	4.8e-17	PFAM
low complexity region	539	569	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,692,213	N331S	probably benign	Het
2410089E03Rik	T	A	15: 8,171,805	V22E	probably damaging	Het
4933407L21Rik	T	A	1: 85,940,551		probably null	Het
Adam17	G	A	12: 21,325,587	R744C	probably damaging	Het
Adss	A	G	1: 177,767,769	Y402H	probably damaging	Het
B020004J07Rik	T	C	4: 101,835,723	K360R	probably benign	Het
Ccdc73	A	T	2: 104,991,343	T546S	possibly damaging	Het
Cd22	T	C	7: 30,870,107	D354G	possibly damaging	Het
Chchd6	T	C	6: 89,467,451	E183G	probably damaging	Het
Col6a5	A	G	9: 105,930,930	L973P	unknown	Het
Cp	T	C	3: 19,989,111	L1021P	probably damaging	Het
Cps1	C	A	1: 67,165,500	T493K	possibly damaging	Het
D630045J12Rik	A	G	6: 38,142,698	V1703A	possibly damaging	Het
Dennd1a	T	C	2: 37,858,077	N376S	possibly damaging	Het
Dmxl1	T	A	18: 49,878,259	M1161K	probably damaging	Het
Ect2l	C	T	10: 18,168,458	V310M	probably damaging	Het
Fn1	T	C	1: 71,640,306	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,908,286	H179R	unknown	Het
Gm8674	T	C	13: 49,902,163		noncoding transcript	Het
Ice1	T	C	13: 70,605,370	T866A	probably benign	Het
Jade2	C	T	11: 51,830,499	V201I	possibly damaging	Het
Kcnb2	T	C	1: 15,710,415	S504P	probably damaging	Het
Kcng4	T	C	8: 119,633,247	K130R	probably benign	Het
Lcor	T	A	19: 41,558,356	S126R	probably damaging	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lrch2	C	G	X: 147,473,007	A437P	probably damaging	Het
Lrrk1	C	T	7: 66,292,364	V709I	probably damaging	Het
Mdh1	A	G	11: 21,559,832	V181A	probably damaging	Het
Olfr1243	T	A	2: 89,527,732	H226L	possibly damaging	Het
Olfr978	A	G	9: 39,994,539	H243R	probably damaging	Het
Ppp1r3a	A	C	6: 14,719,912	D334E	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,375,424	S207G	probably benign	Het
Robo3	G	A	9: 37,422,181	Q723*	probably null	Het
Rreb1	G	A	13: 37,898,506		probably null	Het
Slc35f2	T	A	9: 53,816,957	S372T	probably benign	Het
Slitrk5	T	A	14: 111,679,797	C284*	probably null	Het
Snapc4	G	A	2: 26,365,498	Q1005*	probably null	Het
Tnxb	A	G	17: 34,718,911	D3896G	probably damaging	Het
Tti1	A	G	2: 158,008,950	V123A	possibly damaging	Het
Usp1	T	C	4: 98,929,736	C147R	probably damaging	Het
Vill	A	G	9: 119,066,714	N106S	probably benign	Het

Other mutations in Papd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Papd5	APN	8	88252258	nonsense	probably null
R0079:Papd5	UTSW	8	88200003	missense	possibly damaging	0.86
R0158:Papd5	UTSW	8	88250743	missense	probably damaging	1.00
R1175:Papd5	UTSW	8	88252007	missense	probably damaging	1.00
R1351:Papd5	UTSW	8	88200374	nonsense	probably null
R1381:Papd5	UTSW	8	88243309	missense	possibly damaging	0.95
R1541:Papd5	UTSW	8	88245599	missense	probably damaging	1.00
R1801:Papd5	UTSW	8	88250788	missense	probably benign	0.25
R1994:Papd5	UTSW	8	88246484	missense	probably damaging	1.00
R2013:Papd5	UTSW	8	88245595	splice site	probably null
R2290:Papd5	UTSW	8	88251975	missense	probably damaging	1.00
R3791:Papd5	UTSW	8	88243329	missense	probably damaging	1.00
R3845:Papd5	UTSW	8	88250664	missense	possibly damaging	0.60
R5041:Papd5	UTSW	8	88255250	small deletion	probably benign
R5253:Papd5	UTSW	8	88200023	missense	possibly damaging	0.63
R6881:Papd5	UTSW	8	88250788	missense	possibly damaging	0.91
R7792:Papd5	UTSW	8	88252554	missense	probably benign
R7936:Papd5	UTSW	8	88252285	missense	probably null	0.05
R8054:Papd5	UTSW	8	88247558	missense	probably damaging	1.00
R8997:Papd5	UTSW	8	88252395	missense	probably benign	0.12
R8998:Papd5	UTSW	8	88250722	missense	probably benign	0.09
X0024:Papd5	UTSW	8	88246475	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTCCTGCCCCTGGAGAC -3'
(R):5'- GAATGGCCACCGATGCTCTG -3'

Sequencing Primer
(F):5'- GCCCCTGGAGACGACCAAC -3'
(R):5'- ACCGATGCTCTGGAGGC -3'

Posted On

2015-04-17