Mutagenetix > Incidental Mutation

Incidental Mutation 'R2403:Pnldc1'

248838

Institutional Source

Beutler Lab

Gene Symbol

Pnldc1

Ensembl Gene

ENSMUSG00000073460

Gene Name

poly(A)-specific ribonuclease (PARN)-like domain containing 1

Synonyms

LOC240023

MMRRC Submission

040369-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R2403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13107616-13129117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13118777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 197 (V197E)

Ref Sequence

ENSEMBL: ENSMUSP00000129377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163394]

AlphaFold

B2RXZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000163394
AA Change: V197E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129377
Gene: ENSMUSG00000073460
AA Change: V197E

Domain	Start	End	E-Value	Type
Pfam:CAF1	3	373	1e-75	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,592 (GRCm39)	E925G	probably damaging	Het
Abca9	T	G	11: 110,006,280 (GRCm39)	Q1275P	probably benign	Het
Adgrl1	T	A	8: 84,657,870 (GRCm39)	M492K	probably benign	Het
Ankrd50	T	A	3: 38,537,234 (GRCm39)	K3*	probably null	Het
Arl5b	T	C	2: 15,079,848 (GRCm39)	S140P	probably damaging	Het
Armc1	T	C	3: 19,211,840 (GRCm39)		probably benign	Het
Ascc1	T	C	10: 59,840,663 (GRCm39)	I8T	probably benign	Het
Bche	A	G	3: 73,608,805 (GRCm39)	V207A	probably damaging	Het
Cacna2d3	A	G	14: 28,627,259 (GRCm39)	L1080P	probably benign	Het
Ceacam3	C	A	7: 16,895,779 (GRCm39)	A583D	probably damaging	Het
Cep290	C	T	10: 100,373,299 (GRCm39)	A1193V	probably benign	Het
Clcn1	T	C	6: 42,290,046 (GRCm39)	I827T	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,175,641 (GRCm39)	D69G	possibly damaging	Het
Cts3	A	G	13: 61,712,806 (GRCm39)	W305R	probably damaging	Het
Dmwd	T	C	7: 18,815,084 (GRCm39)	I578T	possibly damaging	Het
Dnmt3a	G	A	12: 3,949,883 (GRCm39)	V559M	probably damaging	Het
Dysf	T	C	6: 84,016,549 (GRCm39)	V70A	possibly damaging	Het
Eml6	A	G	11: 29,752,434 (GRCm39)	V993A	probably benign	Het
Etl4	T	A	2: 20,812,117 (GRCm39)	L1768*	probably null	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fat3	T	G	9: 15,881,167 (GRCm39)	D3235A	probably damaging	Het
Fbxo36	T	A	1: 84,877,823 (GRCm39)	F162I	probably damaging	Het
Fgfrl1	T	C	5: 108,852,897 (GRCm39)	W200R	probably damaging	Het
Fsip2	T	C	2: 82,811,064 (GRCm39)	M2461T	possibly damaging	Het
Fut1	A	G	7: 45,268,643 (GRCm39)	Y144C	probably benign	Het
Gprin3	G	A	6: 59,331,134 (GRCm39)	A391V	probably benign	Het
H2-Q4	A	G	17: 35,598,973 (GRCm39)	E81G	probably damaging	Het
Hacd3	A	G	9: 64,908,311 (GRCm39)	S162P	probably damaging	Het
Itga1	A	T	13: 115,114,150 (GRCm39)	H918Q	probably benign	Het
Lrp5	C	A	19: 3,647,430 (GRCm39)	D1271Y	probably damaging	Het
Lsm8	C	T	6: 18,849,643 (GRCm39)	T17I	probably benign	Het
Mup4	T	A	4: 59,958,145 (GRCm39)	D141V	probably damaging	Het
Nckap5	G	A	1: 125,955,146 (GRCm39)	H405Y	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or12k8	T	C	2: 36,974,986 (GRCm39)	Y258C	probably benign	Het
Ostf1	T	C	19: 18,562,026 (GRCm39)	K190R	probably benign	Het
Ptprc	A	G	1: 138,016,270 (GRCm39)	S531P	probably damaging	Het
Ryr3	C	T	2: 112,516,973 (GRCm39)	E3318K	probably damaging	Het
Scamp2	T	C	9: 57,484,995 (GRCm39)	V67A	possibly damaging	Het
Serpina3g	C	A	12: 104,207,421 (GRCm39)	L195M	probably damaging	Het
Siglec1	G	T	2: 130,916,395 (GRCm39)	T1185N	possibly damaging	Het
Sycp2	G	A	2: 178,045,528 (GRCm39)	Q31*	probably null	Het
Tmprss15	T	G	16: 78,854,578 (GRCm39)	T277P	probably damaging	Het
Trim34b	C	T	7: 103,978,876 (GRCm39)	S41L	probably benign	Het
Ttn	T	C	2: 76,557,705 (GRCm39)	T21507A	possibly damaging	Het
Umad1	T	C	6: 8,427,161 (GRCm39)	V138A	possibly damaging	Het
Zfp523	A	G	17: 28,414,183 (GRCm39)	I72M	probably damaging	Het
Zfp655	C	T	5: 145,181,356 (GRCm39)	R405C	probably benign	Het
Zfp715	G	A	7: 42,948,692 (GRCm39)	R423C	possibly damaging	Het

Other mutations in Pnldc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pnldc1	APN	17	13,124,645 (GRCm39)	splice site	probably benign
IGL01599:Pnldc1	APN	17	13,125,415 (GRCm39)	missense	probably benign	0.18
IGL02109:Pnldc1	APN	17	13,124,425 (GRCm39)	missense	probably benign	0.01
R0022:Pnldc1	UTSW	17	13,109,006 (GRCm39)	missense	probably damaging	1.00
R0423:Pnldc1	UTSW	17	13,108,963 (GRCm39)	missense	possibly damaging	0.51
R1921:Pnldc1	UTSW	17	13,107,815 (GRCm39)	missense	possibly damaging	0.94
R1978:Pnldc1	UTSW	17	13,125,392 (GRCm39)	missense	possibly damaging	0.88
R4027:Pnldc1	UTSW	17	13,109,666 (GRCm39)	missense	probably benign	0.01
R4574:Pnldc1	UTSW	17	13,111,669 (GRCm39)	missense	probably benign	0.01
R5148:Pnldc1	UTSW	17	13,111,676 (GRCm39)	missense	probably benign	0.00
R5381:Pnldc1	UTSW	17	13,109,283 (GRCm39)	missense	probably benign	0.07
R5973:Pnldc1	UTSW	17	13,113,260 (GRCm39)	missense	probably benign	0.07
R6073:Pnldc1	UTSW	17	13,109,250 (GRCm39)	missense	probably null	0.05
R6368:Pnldc1	UTSW	17	13,124,751 (GRCm39)	missense	probably damaging	1.00
R6551:Pnldc1	UTSW	17	13,124,456 (GRCm39)	missense	probably damaging	0.98
R7909:Pnldc1	UTSW	17	13,122,098 (GRCm39)	missense	probably benign	0.04
R8088:Pnldc1	UTSW	17	13,116,189 (GRCm39)	missense	probably damaging	1.00
R8724:Pnldc1	UTSW	17	13,111,703 (GRCm39)	missense	probably damaging	0.96
R8728:Pnldc1	UTSW	17	13,116,165 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATGCAGCTGGAAAGCAGC -3'
(R):5'- TGAGATCCAGCCCTTAGAGGTTG -3'

Sequencing Primer
(F):5'- GCAGCATATGTGTCTTTACCACAGAG -3'
(R):5'- CCCTTAGAGGTTGTGTTCCTAGAAC -3'

Posted On

2014-11-11