Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Pds5a'

369785

Institutional Source

Beutler Lab

Gene Symbol

Pds5a

Ensembl Gene

ENSMUSG00000029202

Gene Name

PDS5 cohesin associated factor A

Synonyms

9030416H16Rik, E230024D05Rik

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65763062-65855579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65808632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 413 (V413E)

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: V413E

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

SMART Domains

Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: V413E

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: ENSMUST00000200766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200790

Predicted Effect

probably damaging
Transcript: ENSMUST00000201948
AA Change: V413E

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

SMART Domains

Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: V413E

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: ENSMUST00000202698

Meta Mutation Damage Score

0.9349

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
Bicra	T	C	7: 15,722,831 (GRCm39)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dtnb	A	G	12: 3,799,505 (GRCm39)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lipe	A	G	7: 25,079,568 (GRCm39)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pax6	T	C	2: 105,514,129 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,620,450 (GRCm39)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,651,095 (GRCm39)	T412I	probably benign	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,251,599 (GRCm39)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,605,074 (GRCm39)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	possibly damaging	Het

Other mutations in Pds5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Pds5a	APN	5	65,813,687 (GRCm39)	missense	probably damaging	1.00
IGL00979:Pds5a	APN	5	65,789,066 (GRCm39)	missense	probably benign	0.22
IGL01314:Pds5a	APN	5	65,772,637 (GRCm39)	missense	probably benign
IGL02449:Pds5a	APN	5	65,776,353 (GRCm39)	missense	probably damaging	1.00
IGL02539:Pds5a	APN	5	65,823,462 (GRCm39)	missense	probably damaging	1.00
IGL03395:Pds5a	APN	5	65,809,792 (GRCm39)	missense	possibly damaging	0.61
R0569:Pds5a	UTSW	5	65,813,744 (GRCm39)	missense	probably damaging	1.00
R0704:Pds5a	UTSW	5	65,777,928 (GRCm39)	missense	probably damaging	1.00
R1170:Pds5a	UTSW	5	65,792,645 (GRCm39)	splice site	probably benign
R1181:Pds5a	UTSW	5	65,784,545 (GRCm39)	splice site	probably null
R1193:Pds5a	UTSW	5	65,795,145 (GRCm39)	missense	probably damaging	1.00
R1537:Pds5a	UTSW	5	65,804,464 (GRCm39)	missense	probably benign	0.09
R1853:Pds5a	UTSW	5	65,781,372 (GRCm39)	missense	possibly damaging	0.56
R2016:Pds5a	UTSW	5	65,805,350 (GRCm39)	critical splice acceptor site	probably null
R2154:Pds5a	UTSW	5	65,807,841 (GRCm39)	missense	probably damaging	1.00
R2209:Pds5a	UTSW	5	65,785,357 (GRCm39)	nonsense	probably null
R2234:Pds5a	UTSW	5	65,811,441 (GRCm39)	missense	probably damaging	1.00
R2235:Pds5a	UTSW	5	65,811,441 (GRCm39)	missense	probably damaging	1.00
R2332:Pds5a	UTSW	5	65,784,422 (GRCm39)	splice site	probably null
R3114:Pds5a	UTSW	5	65,776,328 (GRCm39)	missense	probably damaging	1.00
R3417:Pds5a	UTSW	5	65,795,235 (GRCm39)	missense	probably damaging	0.99
R3820:Pds5a	UTSW	5	65,811,419 (GRCm39)	missense	possibly damaging	0.94
R4152:Pds5a	UTSW	5	65,823,514 (GRCm39)	nonsense	probably null
R4159:Pds5a	UTSW	5	65,821,839 (GRCm39)	missense	possibly damaging	0.75
R4160:Pds5a	UTSW	5	65,821,839 (GRCm39)	missense	possibly damaging	0.75
R4161:Pds5a	UTSW	5	65,821,839 (GRCm39)	missense	possibly damaging	0.75
R4230:Pds5a	UTSW	5	65,787,329 (GRCm39)	missense	possibly damaging	0.85
R4491:Pds5a	UTSW	5	65,792,780 (GRCm39)	missense	probably benign
R4647:Pds5a	UTSW	5	65,813,661 (GRCm39)	missense	probably damaging	1.00
R4867:Pds5a	UTSW	5	65,801,463 (GRCm39)	missense	probably damaging	1.00
R5001:Pds5a	UTSW	5	65,854,128 (GRCm39)	missense	probably damaging	0.99
R5013:Pds5a	UTSW	5	65,792,680 (GRCm39)	missense	probably benign	0.05
R5054:Pds5a	UTSW	5	65,795,157 (GRCm39)	missense	probably damaging	1.00
R5068:Pds5a	UTSW	5	65,772,615 (GRCm39)	missense	probably damaging	0.99
R5178:Pds5a	UTSW	5	65,821,218 (GRCm39)	missense	probably damaging	1.00
R5269:Pds5a	UTSW	5	65,821,271 (GRCm39)	missense	probably damaging	1.00
R5396:Pds5a	UTSW	5	65,795,920 (GRCm39)	missense	probably benign	0.09
R5704:Pds5a	UTSW	5	65,784,422 (GRCm39)	splice site	probably null
R5940:Pds5a	UTSW	5	65,801,328 (GRCm39)	intron	probably benign
R6306:Pds5a	UTSW	5	65,813,639 (GRCm39)	missense	probably damaging	1.00
R6322:Pds5a	UTSW	5	65,854,177 (GRCm39)	missense	probably benign	0.00
R6467:Pds5a	UTSW	5	65,809,782 (GRCm39)	missense	probably damaging	1.00
R6476:Pds5a	UTSW	5	65,791,630 (GRCm39)	missense	possibly damaging	0.94
R6513:Pds5a	UTSW	5	65,772,944 (GRCm39)	missense	probably benign	0.18
R7304:Pds5a	UTSW	5	65,777,077 (GRCm39)	missense	probably damaging	1.00
R7312:Pds5a	UTSW	5	65,823,570 (GRCm39)	missense	possibly damaging	0.81
R7438:Pds5a	UTSW	5	65,809,878 (GRCm39)	critical splice acceptor site	probably null
R7637:Pds5a	UTSW	5	65,795,947 (GRCm39)	missense	probably benign	0.12
R7654:Pds5a	UTSW	5	65,776,324 (GRCm39)	missense	probably damaging	1.00
R7707:Pds5a	UTSW	5	65,767,476 (GRCm39)	missense	unknown
R7715:Pds5a	UTSW	5	65,795,904 (GRCm39)	missense	possibly damaging	0.96
R7748:Pds5a	UTSW	5	65,777,009 (GRCm39)	missense	possibly damaging	0.93
R7910:Pds5a	UTSW	5	65,795,925 (GRCm39)	missense	possibly damaging	0.85
R8014:Pds5a	UTSW	5	65,785,082 (GRCm39)	missense	possibly damaging	0.56
R8023:Pds5a	UTSW	5	65,795,241 (GRCm39)	missense	probably damaging	1.00
R8070:Pds5a	UTSW	5	65,809,741 (GRCm39)	missense	possibly damaging	0.92
R8190:Pds5a	UTSW	5	65,781,341 (GRCm39)	missense	probably damaging	1.00
R8406:Pds5a	UTSW	5	65,803,681 (GRCm39)	missense	probably benign	0.02
R9074:Pds5a	UTSW	5	65,804,479 (GRCm39)	missense	possibly damaging	0.86
R9222:Pds5a	UTSW	5	65,805,281 (GRCm39)	missense	probably benign	0.42
R9390:Pds5a	UTSW	5	65,823,600 (GRCm39)	missense	probably benign	0.39
R9404:Pds5a	UTSW	5	65,776,307 (GRCm39)	missense	probably damaging	0.99
R9479:Pds5a	UTSW	5	65,792,747 (GRCm39)	missense	probably damaging	1.00
R9493:Pds5a	UTSW	5	65,792,747 (GRCm39)	missense	probably damaging	1.00
R9596:Pds5a	UTSW	5	65,772,830 (GRCm39)	missense	probably benign	0.01
R9681:Pds5a	UTSW	5	65,808,587 (GRCm39)	missense	probably damaging	1.00
R9688:Pds5a	UTSW	5	65,812,196 (GRCm39)	missense	probably benign	0.44
R9792:Pds5a	UTSW	5	65,795,989 (GRCm39)	missense	probably benign
Z1088:Pds5a	UTSW	5	65,776,329 (GRCm39)	missense	probably damaging	1.00
Z1176:Pds5a	UTSW	5	65,817,070 (GRCm39)	missense	possibly damaging	0.75
Z1177:Pds5a	UTSW	5	65,808,555 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACGACTGATATGCTATCATCTCTC -3'
(R):5'- GGTCATTTAGCAGTACGGCAC -3'

Sequencing Primer
(F):5'- CAAAGAATCATATGTAAGCATGTGTG -3'
(R):5'- CTACTGTCTTACCAGAAATAGGTGC -3'

Posted On

2016-02-04