Mutagenetix > Incidental Mutation

Incidental Mutation 'R5269:Pds5a'

400050

Institutional Source

Beutler Lab

Gene Symbol

Pds5a

Ensembl Gene

ENSMUSG00000029202

Gene Name

PDS5 cohesin associated factor A

Synonyms

9030416H16Rik, E230024D05Rik

MMRRC Submission

042834-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65605721-65698273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65663928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 151 (N151S)

Ref Sequence

ENSEMBL: ENSMUSP00000144171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031104] [ENSMUST00000201948]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031104
AA Change: N151S

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

SMART Domains

Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: N151S

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	253	782	6e-30	SMART
low complexity region	934	946	N/A	INTRINSIC
low complexity region	1174	1190	N/A	INTRINSIC
low complexity region	1258	1276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201034

Predicted Effect

probably damaging
Transcript: ENSMUST00000201948
AA Change: N151S

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

SMART Domains

Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: N151S

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	253	782	6e-30	SMART
low complexity region	934	946	N/A	INTRINSIC
low complexity region	1174	1190	N/A	INTRINSIC
low complexity region	1258	1276	N/A	INTRINSIC

Meta Mutation Damage Score

0.3047

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,376,743	S357P	possibly damaging	Het
Adam39	A	G	8: 40,825,981	I470V	probably benign	Het
Agrn	A	T	4: 156,168,990	C1708S	probably benign	Het
Agtpbp1	A	G	13: 59,473,743	I42T	probably damaging	Het
Akap6	T	C	12: 53,139,843	C1347R	probably damaging	Het
Als2cr12	A	G	1: 58,691,760	S46P	possibly damaging	Het
Antxr1	A	G	6: 87,180,183	L452P	probably damaging	Het
Arhgef33	T	A	17: 80,370,275	V417D	probably damaging	Het
Brca2	A	G	5: 150,539,223	I817M	possibly damaging	Het
Casp4	A	T	9: 5,321,521		probably benign	Het
Cdh20	T	C	1: 104,934,157	Y21H	possibly damaging	Het
Cdr2	C	T	7: 120,958,334	V323M	possibly damaging	Het
Cebpa	G	A	7: 35,119,858	R147H	probably benign	Het
Cetn4	C	A	3: 37,309,969	E31*	probably null	Het
Cobll1	G	A	2: 65,133,771	Q189*	probably null	Het
Colec12	A	G	18: 9,846,825	T74A	possibly damaging	Het
Crisp4	A	G	1: 18,128,710	S124P	probably damaging	Het
Eddm3b	T	A	14: 51,116,721	D55E	probably damaging	Het
Elmo1	C	A	13: 20,449,486	N439K	probably benign	Het
Fabp12	T	C	3: 10,250,107	N60S	probably benign	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat2	T	A	11: 55,287,878	H1452L	probably benign	Het
Flrt2	T	C	12: 95,779,938	V350A	possibly damaging	Het
Ganab	T	C	19: 8,911,937	F626S	probably damaging	Het
Ghr	T	C	15: 3,320,079	Y539C	probably benign	Het
Gm6871	T	C	7: 41,548,101	T112A	probably damaging	Het
Gm7133	T	A	1: 97,183,123		noncoding transcript	Het
Gon4l	A	C	3: 88,895,528	I1149L	probably benign	Het
Greb1l	G	A	18: 10,511,409	D45N	probably benign	Het
H2-K1	A	G	17: 33,997,015		probably benign	Het
Herc2	C	T	7: 56,168,870	R2770*	probably null	Het
Itsn2	A	G	12: 4,633,553		probably benign	Het
Klb	A	G	5: 65,348,797	D129G	probably damaging	Het
Klf1	A	G	8: 84,903,340	I265V	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Map3k10	T	C	7: 27,658,532	E607G	probably benign	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Mroh6	A	G	15: 75,885,790	L457P	probably damaging	Het
Mrpl21	T	A	19: 3,287,012	C128S	probably damaging	Het
Olfr564	T	C	7: 102,804,120	V214A	probably benign	Het
Paqr4	G	T	17: 23,738,213	H105Q	probably damaging	Het
Pcdhga10	A	G	18: 37,748,694	I503V	probably benign	Het
Pif1	A	G	9: 65,591,829	T444A	possibly damaging	Het
Ppp2r3a	T	C	9: 101,153,865	R851G	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Ros1	T	G	10: 52,051,008	Q2172P	probably damaging	Het
Rpe65	A	G	3: 159,604,347	T86A	probably benign	Het
Rpl18a	G	A	8: 70,896,288	R15C	possibly damaging	Het
Sh3tc2	A	G	18: 61,975,613	K258R	probably benign	Het
Ska3	T	A	14: 57,822,116	E84V	possibly damaging	Het
Slc25a40	T	A	5: 8,447,409		probably null	Het
Slf1	A	T	13: 77,104,581	S274T	probably benign	Het
Spata21	A	T	4: 141,103,021	Q267H	probably damaging	Het
Strbp	A	T	2: 37,627,443	W207R	possibly damaging	Het
Taf6l	T	C	19: 8,774,962	E454G	probably damaging	Het
Tcam1	C	A	11: 106,285,527	L360I	probably benign	Het
Tnxb	G	A	17: 34,703,608	R2465H	possibly damaging	Het
Trim66	T	A	7: 109,457,590	Y1120F	probably benign	Het
Trp53	T	A	11: 69,589,205	M243K	probably damaging	Het
Ttl	T	A	2: 129,068,911	C72S	probably damaging	Het
Ttn	A	G	2: 76,708,896	V34582A	probably benign	Het
Uqcrh	T	C	4: 116,069,904	T31A	possibly damaging	Het
Usp40	A	G	1: 87,995,782	C256R	probably benign	Het
Vmn1r168	A	G	7: 23,541,414	E232G	probably benign	Het
Wdr72	A	T	9: 74,157,371	I562F	probably damaging	Het
Wnt4	A	G	4: 137,277,750	N24S	probably benign	Het

Other mutations in Pds5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Pds5a	APN	5	65656344	missense	probably damaging	1.00
IGL00979:Pds5a	APN	5	65631723	missense	probably benign	0.22
IGL01314:Pds5a	APN	5	65615294	missense	probably benign
IGL02449:Pds5a	APN	5	65619010	missense	probably damaging	1.00
IGL02539:Pds5a	APN	5	65666119	missense	probably damaging	1.00
IGL03395:Pds5a	APN	5	65652449	missense	possibly damaging	0.61
R0569:Pds5a	UTSW	5	65656401	missense	probably damaging	1.00
R0704:Pds5a	UTSW	5	65620585	missense	probably damaging	1.00
R1170:Pds5a	UTSW	5	65635302	splice site	probably benign
R1181:Pds5a	UTSW	5	65627202	splice site	probably null
R1193:Pds5a	UTSW	5	65637802	missense	probably damaging	1.00
R1537:Pds5a	UTSW	5	65647121	missense	probably benign	0.09
R1853:Pds5a	UTSW	5	65624029	missense	possibly damaging	0.56
R2016:Pds5a	UTSW	5	65648007	critical splice acceptor site	probably null
R2154:Pds5a	UTSW	5	65650498	missense	probably damaging	1.00
R2209:Pds5a	UTSW	5	65628014	nonsense	probably null
R2234:Pds5a	UTSW	5	65654098	missense	probably damaging	1.00
R2235:Pds5a	UTSW	5	65654098	missense	probably damaging	1.00
R2332:Pds5a	UTSW	5	65627079	splice site	probably null
R3114:Pds5a	UTSW	5	65618985	missense	probably damaging	1.00
R3417:Pds5a	UTSW	5	65637892	missense	probably damaging	0.99
R3820:Pds5a	UTSW	5	65654076	missense	possibly damaging	0.94
R4152:Pds5a	UTSW	5	65666171	nonsense	probably null
R4159:Pds5a	UTSW	5	65664496	missense	possibly damaging	0.75
R4160:Pds5a	UTSW	5	65664496	missense	possibly damaging	0.75
R4161:Pds5a	UTSW	5	65664496	missense	possibly damaging	0.75
R4230:Pds5a	UTSW	5	65629986	missense	possibly damaging	0.85
R4491:Pds5a	UTSW	5	65635437	missense	probably benign
R4647:Pds5a	UTSW	5	65656318	missense	probably damaging	1.00
R4816:Pds5a	UTSW	5	65651289	missense	probably damaging	1.00
R4867:Pds5a	UTSW	5	65644120	missense	probably damaging	1.00
R5001:Pds5a	UTSW	5	65696785	missense	probably damaging	0.99
R5013:Pds5a	UTSW	5	65635337	missense	probably benign	0.05
R5054:Pds5a	UTSW	5	65637814	missense	probably damaging	1.00
R5068:Pds5a	UTSW	5	65615272	missense	probably damaging	0.99
R5178:Pds5a	UTSW	5	65663875	missense	probably damaging	1.00
R5396:Pds5a	UTSW	5	65638577	missense	probably benign	0.09
R5704:Pds5a	UTSW	5	65627079	splice site	probably null
R5940:Pds5a	UTSW	5	65643985	intron	probably benign
R6306:Pds5a	UTSW	5	65656296	missense	probably damaging	1.00
R6322:Pds5a	UTSW	5	65696834	missense	probably benign	0.00
R6467:Pds5a	UTSW	5	65652439	missense	probably damaging	1.00
R6476:Pds5a	UTSW	5	65634287	missense	possibly damaging	0.94
R6513:Pds5a	UTSW	5	65615601	missense	probably benign	0.18
R7304:Pds5a	UTSW	5	65619734	missense	probably damaging	1.00
R7312:Pds5a	UTSW	5	65666227	missense	possibly damaging	0.81
R7438:Pds5a	UTSW	5	65652535	critical splice acceptor site	probably null
R7637:Pds5a	UTSW	5	65638604	missense	probably benign	0.12
R7654:Pds5a	UTSW	5	65618981	missense	probably damaging	1.00
R7707:Pds5a	UTSW	5	65610133	missense	unknown
R7715:Pds5a	UTSW	5	65638561	missense	possibly damaging	0.96
R7748:Pds5a	UTSW	5	65619666	missense	possibly damaging	0.93
R7910:Pds5a	UTSW	5	65638582	missense	possibly damaging	0.85
R8014:Pds5a	UTSW	5	65627739	missense	possibly damaging	0.56
R8023:Pds5a	UTSW	5	65637898	missense	probably damaging	1.00
R8070:Pds5a	UTSW	5	65652398	missense	possibly damaging	0.92
R8190:Pds5a	UTSW	5	65623998	missense	probably damaging	1.00
R8406:Pds5a	UTSW	5	65646338	missense	probably benign	0.02
R9074:Pds5a	UTSW	5	65647136	missense	possibly damaging	0.86
R9222:Pds5a	UTSW	5	65647938	missense	probably benign	0.42
R9390:Pds5a	UTSW	5	65666257	missense	probably benign	0.39
R9404:Pds5a	UTSW	5	65618964	missense	probably damaging	0.99
R9479:Pds5a	UTSW	5	65635404	missense	probably damaging	1.00
R9493:Pds5a	UTSW	5	65635404	missense	probably damaging	1.00
R9596:Pds5a	UTSW	5	65615487	missense	probably benign	0.01
R9681:Pds5a	UTSW	5	65651244	missense	probably damaging	1.00
R9688:Pds5a	UTSW	5	65654853	missense	probably benign	0.44
R9792:Pds5a	UTSW	5	65638646	missense	probably benign
Z1088:Pds5a	UTSW	5	65618986	missense	probably damaging	1.00
Z1176:Pds5a	UTSW	5	65659727	missense	possibly damaging	0.75
Z1177:Pds5a	UTSW	5	65651212	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGCTCTCAAACAACAGGGTTTC -3'
(R):5'- AGTTGATGCCACAGCCATG -3'

Sequencing Primer
(F):5'- AACAACAGGGTTTCTTTATTTACCCC -3'
(R):5'- GATGCCACAGCCATGAATTTAAAG -3'

Posted On

2016-07-06