Mutagenetix > Incidental Mutation

Incidental Mutation 'R7038:Pds5b'

546848

Institutional Source

Beutler Lab

Gene Symbol

Pds5b

Ensembl Gene

ENSMUSG00000034021

Gene Name

PDS5 cohesin associated factor B

Synonyms

Aprin, AS3

MMRRC Submission

045138-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150597204-150734155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 150724225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1269 (R1269S)

Ref Sequence

ENSEMBL: ENSMUSP00000144572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000110486] [ENSMUST00000202170]

AlphaFold

Q4VA53

Predicted Effect

probably benign
Transcript: ENSMUST00000016569
AA Change: R1267S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: R1267S

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	244	773	6e-33	SMART
low complexity region	1156	1167	N/A	INTRINSIC
AT_hook	1247	1259	4.14e1	SMART
AT_hook	1285	1297	1.35e2	SMART
low complexity region	1307	1316	N/A	INTRINSIC
low complexity region	1318	1329	N/A	INTRINSIC
AT_hook	1370	1382	1.46e0	SMART
low complexity region	1437	1446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038900
AA Change: R1269S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: R1269S

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	244	773	6e-33	SMART
low complexity region	1156	1167	N/A	INTRINSIC
AT_hook	1249	1261	4.14e1	SMART
AT_hook	1287	1299	1.35e2	SMART
low complexity region	1309	1318	N/A	INTRINSIC
low complexity region	1320	1331	N/A	INTRINSIC
AT_hook	1373	1385	1.46e0	SMART
low complexity region	1440	1449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110486

SMART Domains

Protein: ENSMUSP00000106112
Gene: ENSMUSG00000034021

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	76	520	5e-10	SMART
low complexity region	627	638	N/A	INTRINSIC
low complexity region	690	698	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202170
AA Change: R1269S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: R1269S

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	244	773	6e-33	SMART
low complexity region	1156	1167	N/A	INTRINSIC
AT_hook	1249	1261	4.14e1	SMART
AT_hook	1287	1299	1.35e2	SMART
low complexity region	1309	1318	N/A	INTRINSIC
low complexity region	1320	1331	N/A	INTRINSIC
AT_hook	1372	1384	1.46e0	SMART
low complexity region	1439	1448	N/A	INTRINSIC

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (101/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality with cardiac defects, craniofacial abnormalities, axial skeletal defects, shortening of most of the long bones, abnormal enteric nervous system morphology, and decreased germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,468,979 (GRCm39)	S748P	possibly damaging	Het
Alppl2	T	C	1: 87,016,833 (GRCm39)	D104G	probably damaging	Het
Als2	C	A	1: 59,206,673 (GRCm39)	W1590L	possibly damaging	Het
Aopep	G	T	13: 63,338,339 (GRCm39)	V571F	possibly damaging	Het
Aplf	C	T	6: 87,630,805 (GRCm39)	W210*	probably null	Het
Ash1l	A	T	3: 88,889,978 (GRCm39)	H619L	probably benign	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Bpifb1	G	T	2: 154,044,589 (GRCm39)	V19F	probably damaging	Het
Capn1	A	T	19: 6,064,349 (GRCm39)	L50Q	probably benign	Het
Carmil1	A	G	13: 24,323,318 (GRCm39)	S245P	probably damaging	Het
Cavin4	A	G	4: 48,672,479 (GRCm39)	H308R	probably benign	Het
Cd4	C	T	6: 124,847,217 (GRCm39)	V316M	probably damaging	Het
Cdcp1	T	C	9: 123,002,662 (GRCm39)	Y803C	probably damaging	Het
Cep295nl	A	G	11: 118,223,815 (GRCm39)	I343T	probably benign	Het
Cgn	T	G	3: 94,670,392 (GRCm39)	T1021P	possibly damaging	Het
Cilk1	C	T	9: 78,016,484 (GRCm39)		probably benign	Het
Col6a5	A	G	9: 105,822,937 (GRCm39)	V140A	unknown	Het
Cops8	T	C	1: 90,531,320 (GRCm39)		probably benign	Het
Crhbp	A	G	13: 95,580,699 (GRCm39)	Y54H	probably damaging	Het
Cyp2c29	G	A	19: 39,275,571 (GRCm39)	V4I	probably benign	Het
Cyp2j6	T	A	4: 96,423,708 (GRCm39)	Y220F	probably benign	Het
D130043K22Rik	A	G	13: 25,077,391 (GRCm39)	D1008G	probably damaging	Het
Ddx47	T	A	6: 135,000,336 (GRCm39)	V444E	possibly damaging	Het
Dnttip2	T	A	3: 122,070,181 (GRCm39)	C465*	probably null	Het
Dst	C	A	1: 34,221,879 (GRCm39)	S2561*	probably null	Het
Dstyk	T	C	1: 132,381,847 (GRCm39)	S534P	probably benign	Het
Eif4e	A	G	3: 138,232,943 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,801,817 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,771,032 (GRCm39)	D129E	possibly damaging	Het
Fndc3b	C	T	3: 27,555,618 (GRCm39)	G312D	probably benign	Het
Gab2	T	A	7: 96,952,290 (GRCm39)	I562N	probably damaging	Het
Gata5	C	A	2: 179,975,685 (GRCm39)	D160Y	possibly damaging	Het
Gcn1	G	A	5: 115,749,203 (GRCm39)	V1912I	probably damaging	Het
Gdf5	C	A	2: 155,786,655 (GRCm39)	Q107H	probably damaging	Het
Gdpd1	A	G	11: 86,926,118 (GRCm39)	Y276H	probably damaging	Het
Gins1	A	G	2: 150,759,791 (GRCm39)	Y81C	probably damaging	Het
Gm28360	T	C	1: 117,781,329 (GRCm39)	C107R	probably damaging	Het
Hadha	T	C	5: 30,324,998 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,730,867 (GRCm39)	I25F	unknown	Het
Hectd4	A	G	5: 121,437,660 (GRCm39)	Y1095C	possibly damaging	Het
Hsp90b1	A	T	10: 86,531,730 (GRCm39)	L73Q	probably damaging	Het
Hspa12a	A	G	19: 58,793,132 (GRCm39)	V351A	probably damaging	Het
Htr1b	T	A	9: 81,514,296 (GRCm39)	M104L	probably benign	Het
Igf2r	T	C	17: 12,917,212 (GRCm39)	T1563A	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Liph	A	T	16: 21,795,009 (GRCm39)	V201E	probably damaging	Het
Ltn1	T	C	16: 87,221,759 (GRCm39)	D196G	probably damaging	Het
Med15	C	T	16: 17,470,591 (GRCm39)	D589N	possibly damaging	Het
Mknk1	A	G	4: 115,714,307 (GRCm39)	D26G	probably damaging	Het
Mpi	T	C	9: 57,452,500 (GRCm39)	D344G	probably damaging	Het
Mrc2	A	G	11: 105,223,062 (GRCm39)	E435G	possibly damaging	Het
Mrps5	A	G	2: 127,442,786 (GRCm39)	E285G	probably damaging	Het
Ms4a20	A	T	19: 11,087,675 (GRCm39)	F85L	probably benign	Het
Muc16	T	A	9: 18,531,764 (GRCm39)	M6197L	probably damaging	Het
Myo3b	A	T	2: 69,925,552 (GRCm39)	E34D	probably benign	Het
Nsd3	T	C	8: 26,131,279 (GRCm39)	S215P	probably damaging	Het
Nsmce2	T	A	15: 59,368,679 (GRCm39)		probably benign	Het
Ntan1	T	C	16: 13,644,774 (GRCm39)	S37P	probably benign	Het
Nup210l	T	A	3: 90,067,254 (GRCm39)	Y765N	probably damaging	Het
Or10q12	A	T	19: 13,745,715 (GRCm39)	D3V	probably benign	Het
Or2aa1	T	C	11: 59,480,408 (GRCm39)	Y169C	possibly damaging	Het
Or4s2b	A	T	2: 88,509,085 (GRCm39)	R288S	probably damaging	Het
Or7g30	A	C	9: 19,352,888 (GRCm39)	L226F	possibly damaging	Het
Pald1	T	C	10: 61,175,078 (GRCm39)	H724R	probably benign	Het
Pcdhb7	A	T	18: 37,475,257 (GRCm39)	D131V	possibly damaging	Het
Pikfyve	T	C	1: 65,273,520 (GRCm39)	V645A	probably damaging	Het
Plag1	G	T	4: 3,904,676 (GRCm39)	H172N	probably damaging	Het
Plch2	G	C	4: 155,074,489 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,929,453 (GRCm39)	V103E	probably damaging	Het
Prpf8	T	A	11: 75,386,984 (GRCm39)	M1143K	probably benign	Het
Ptpn18	T	A	1: 34,498,906 (GRCm39)	M1K	probably null	Het
Rasgrf2	G	A	13: 92,130,952 (GRCm39)	T703I	possibly damaging	Het
Rassf6	A	T	5: 90,757,584 (GRCm39)	H125Q	probably benign	Het
Sdad1	A	G	5: 92,446,049 (GRCm39)		probably null	Het
Sf3a3	T	A	4: 124,622,219 (GRCm39)	F426L	probably benign	Het
Sgsm3	T	C	15: 80,892,576 (GRCm39)	F6L	possibly damaging	Het
Slc14a2	A	T	18: 78,202,252 (GRCm39)	I626N	probably damaging	Het
Slc17a8	T	C	10: 89,436,083 (GRCm39)	N165S	probably benign	Het
Slc41a1	C	A	1: 131,769,795 (GRCm39)	A305D	possibly damaging	Het
Smyd4	C	A	11: 75,281,340 (GRCm39)	P271Q	probably damaging	Het
Spag17	C	A	3: 99,891,925 (GRCm39)	H260N	probably benign	Het
Spata2	A	T	2: 167,327,283 (GRCm39)	V38E	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Syt14	T	A	1: 192,665,966 (GRCm39)		probably benign	Het
Tbx21	A	G	11: 96,990,597 (GRCm39)	S329P	probably damaging	Het
Tex2	A	T	11: 106,402,726 (GRCm39)		probably null	Het
Tmem62	A	G	2: 120,824,058 (GRCm39)	I244M	possibly damaging	Het
Tnks	A	T	8: 35,318,790 (GRCm39)	N830K	probably damaging	Het
Tox2	A	G	2: 163,156,264 (GRCm39)	E145G	probably damaging	Het
Tpcn1	T	C	5: 120,723,342 (GRCm39)	D7G	probably damaging	Het
Ttc28	T	A	5: 111,414,445 (GRCm39)	M1320K	probably benign	Het
Tubgcp5	T	G	7: 55,455,114 (GRCm39)	V270G	probably damaging	Het
Unc5a	A	G	13: 55,152,297 (GRCm39)	R62G	probably damaging	Het
Unc5d	A	G	8: 29,205,749 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,558,082 (GRCm39)	H1459R	probably damaging	Het
Vmn2r100	T	A	17: 19,725,263 (GRCm39)	L64Q	possibly damaging	Het
Wdr55	T	G	18: 36,893,473 (GRCm39)	L45R	probably damaging	Het
Zfp292	A	G	4: 34,816,357 (GRCm39)	Y306H	probably damaging	Het
Zfp398	G	T	6: 47,843,243 (GRCm39)	D300Y	probably damaging	Het
Zfp407	A	G	18: 84,579,982 (GRCm39)	V377A	probably damaging	Het
Zfp457	G	A	13: 67,441,997 (GRCm39)	H97Y	probably benign	Het
Zfp467	T	C	6: 48,415,072 (GRCm39)	T527A	probably damaging	Het

Other mutations in Pds5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Pds5b	APN	5	150,646,007 (GRCm39)	missense	probably benign	0.25
IGL01530:Pds5b	APN	5	150,715,640 (GRCm39)	missense	probably benign	0.38
IGL01812:Pds5b	APN	5	150,704,154 (GRCm39)	missense	probably damaging	1.00
IGL02163:Pds5b	APN	5	150,679,871 (GRCm39)	missense	probably benign	0.00
IGL02730:Pds5b	APN	5	150,704,217 (GRCm39)	splice site	probably benign
IGL02825:Pds5b	APN	5	150,652,435 (GRCm39)	missense	possibly damaging	0.90
IGL03143:Pds5b	APN	5	150,702,722 (GRCm39)	missense	probably damaging	1.00
IGL03379:Pds5b	APN	5	150,711,796 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Pds5b	UTSW	5	150,701,774 (GRCm39)	missense	probably damaging	0.99
R0026:Pds5b	UTSW	5	150,673,295 (GRCm39)	splice site	probably benign
R0197:Pds5b	UTSW	5	150,677,896 (GRCm39)	missense	probably benign	0.28
R0347:Pds5b	UTSW	5	150,659,892 (GRCm39)	splice site	probably benign
R0396:Pds5b	UTSW	5	150,702,740 (GRCm39)	missense	possibly damaging	0.96
R0400:Pds5b	UTSW	5	150,646,818 (GRCm39)	missense	possibly damaging	0.46
R0442:Pds5b	UTSW	5	150,640,009 (GRCm39)	splice site	probably benign
R0745:Pds5b	UTSW	5	150,729,136 (GRCm39)	missense	probably benign
R0839:Pds5b	UTSW	5	150,688,427 (GRCm39)	missense	probably benign	0.23
R0866:Pds5b	UTSW	5	150,662,656 (GRCm39)	splice site	probably benign
R1247:Pds5b	UTSW	5	150,698,819 (GRCm39)	critical splice acceptor site	probably benign
R1330:Pds5b	UTSW	5	150,684,542 (GRCm39)	missense	probably damaging	0.97
R1440:Pds5b	UTSW	5	150,677,882 (GRCm39)	missense	probably damaging	1.00
R1526:Pds5b	UTSW	5	150,639,865 (GRCm39)	splice site	probably null
R2010:Pds5b	UTSW	5	150,698,819 (GRCm39)	critical splice acceptor site	probably benign
R2051:Pds5b	UTSW	5	150,671,655 (GRCm39)	missense	probably damaging	1.00
R2507:Pds5b	UTSW	5	150,679,893 (GRCm39)	missense	possibly damaging	0.90
R3111:Pds5b	UTSW	5	150,643,372 (GRCm39)	missense	probably damaging	1.00
R3820:Pds5b	UTSW	5	150,659,802 (GRCm39)	missense	possibly damaging	0.94
R3911:Pds5b	UTSW	5	150,670,171 (GRCm39)	missense	probably benign	0.41
R4077:Pds5b	UTSW	5	150,717,824 (GRCm39)	missense	possibly damaging	0.62
R4118:Pds5b	UTSW	5	150,698,819 (GRCm39)	critical splice acceptor site	probably benign
R4342:Pds5b	UTSW	5	150,724,319 (GRCm39)	missense	probably benign	0.17
R4416:Pds5b	UTSW	5	150,659,861 (GRCm39)	missense	probably damaging	1.00
R4503:Pds5b	UTSW	5	150,652,399 (GRCm39)	missense	probably damaging	1.00
R4524:Pds5b	UTSW	5	150,711,781 (GRCm39)	missense	probably damaging	1.00
R4579:Pds5b	UTSW	5	150,670,197 (GRCm39)	missense	probably damaging	0.98
R4623:Pds5b	UTSW	5	150,724,066 (GRCm39)	missense	probably benign	0.37
R4847:Pds5b	UTSW	5	150,671,577 (GRCm39)	missense	probably damaging	1.00
R4885:Pds5b	UTSW	5	150,639,927 (GRCm39)	missense	probably benign	0.21
R5271:Pds5b	UTSW	5	150,646,818 (GRCm39)	missense	possibly damaging	0.46
R5281:Pds5b	UTSW	5	150,670,073 (GRCm39)	missense	probably benign	0.26
R5337:Pds5b	UTSW	5	150,717,062 (GRCm39)	missense	probably benign	0.03
R5635:Pds5b	UTSW	5	150,701,686 (GRCm39)	missense	possibly damaging	0.78
R5677:Pds5b	UTSW	5	150,639,926 (GRCm39)	missense	possibly damaging	0.91
R6005:Pds5b	UTSW	5	150,693,241 (GRCm39)	splice site	probably null
R6139:Pds5b	UTSW	5	150,724,242 (GRCm39)	missense	possibly damaging	0.81
R6225:Pds5b	UTSW	5	150,670,083 (GRCm39)	missense	probably damaging	0.98
R6279:Pds5b	UTSW	5	150,646,713 (GRCm39)	missense	possibly damaging	0.80
R6300:Pds5b	UTSW	5	150,646,713 (GRCm39)	missense	possibly damaging	0.80
R6666:Pds5b	UTSW	5	150,701,631 (GRCm39)	missense	probably damaging	1.00
R6805:Pds5b	UTSW	5	150,729,026 (GRCm39)	splice site	probably null
R7046:Pds5b	UTSW	5	150,673,385 (GRCm39)	missense	probably damaging	1.00
R7051:Pds5b	UTSW	5	150,717,747 (GRCm39)	missense	possibly damaging	0.78
R7138:Pds5b	UTSW	5	150,724,142 (GRCm39)	nonsense	probably null
R7255:Pds5b	UTSW	5	150,720,132 (GRCm39)	missense	probably benign	0.33
R7467:Pds5b	UTSW	5	150,659,792 (GRCm39)	missense	probably damaging	0.99
R7488:Pds5b	UTSW	5	150,646,802 (GRCm39)	missense	probably damaging	0.97
R7512:Pds5b	UTSW	5	150,711,807 (GRCm39)	missense	probably damaging	1.00
R7561:Pds5b	UTSW	5	150,662,783 (GRCm39)	critical splice donor site	probably null
R7576:Pds5b	UTSW	5	150,701,726 (GRCm39)	missense	probably damaging	1.00
R7889:Pds5b	UTSW	5	150,715,637 (GRCm39)	missense	probably damaging	1.00
R7982:Pds5b	UTSW	5	150,693,406 (GRCm39)	missense	probably damaging	1.00
R8059:Pds5b	UTSW	5	150,731,300 (GRCm39)	missense	unknown
R8211:Pds5b	UTSW	5	150,652,407 (GRCm39)	missense	possibly damaging	0.90
R8412:Pds5b	UTSW	5	150,643,424 (GRCm39)	missense	probably damaging	1.00
R8503:Pds5b	UTSW	5	150,639,972 (GRCm39)	missense	possibly damaging	0.95
R8556:Pds5b	UTSW	5	150,716,073 (GRCm39)	missense	probably benign
R8786:Pds5b	UTSW	5	150,704,134 (GRCm39)	missense	probably damaging	1.00
R8929:Pds5b	UTSW	5	150,643,379 (GRCm39)	missense	probably damaging	1.00
R8985:Pds5b	UTSW	5	150,724,239 (GRCm39)	missense	probably benign	0.38
R9184:Pds5b	UTSW	5	150,724,249 (GRCm39)	missense	probably benign	0.04
R9343:Pds5b	UTSW	5	150,704,186 (GRCm39)	missense	probably damaging	1.00
R9432:Pds5b	UTSW	5	150,693,256 (GRCm39)	missense	probably damaging	1.00
R9571:Pds5b	UTSW	5	150,645,971 (GRCm39)	missense	probably damaging	1.00
R9712:Pds5b	UTSW	5	150,729,128 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TCCAGTCTGAGTTGGAGAAGC -3'
(R):5'- GCACACACTCACCTCTGTTG -3'

Sequencing Primer
(F):5'- TCTGAGTTGGAGAAGCCTAGAAGTC -3'
(R):5'- CTTCTTCATCGTCGTCTACTACAGG -3'

Posted On

2019-05-13