Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:Pds5b'

226416

Institutional Source

Beutler Lab

Gene Symbol

Pds5b

Ensembl Gene

ENSMUSG00000034021

Gene Name

PDS5 cohesin associated factor B

Synonyms

Aprin, AS3

MMRRC Submission

040058-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150597204-150734155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 150671655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 433 (I433R)

Ref Sequence

ENSEMBL: ENSMUSP00000144572 (fasta)

Gene Model

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

AlphaFold

Q4VA53

Predicted Effect

probably damaging
Transcript: ENSMUST00000016569
AA Change: I433R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: I433R

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 damaging
Transcript: ENSMUST00000038900
AA Change: I433R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: I433R

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

noncoding transcript
Transcript: ENSMUST00000133738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200678

Predicted Effect

probably damaging
Transcript: ENSMUST00000202170
AA Change: I433R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: I433R

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,562,447 (GRCm39)	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,541,392 (GRCm39)	K10N	possibly damaging	Het
Aadat	T	A	8: 60,960,173 (GRCm39)	S40T	probably benign	Het
Abca13	A	G	11: 9,278,098 (GRCm39)	I3093V	probably benign	Het
Acacb	A	T	5: 114,383,951 (GRCm39)	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,075,333 (GRCm39)	S189I	probably benign	Het
Actr5	A	T	2: 158,474,213 (GRCm39)	M339L	probably benign	Het
Adcy1	A	T	11: 7,111,885 (GRCm39)	K917*	probably null	Het
Adgrg5	C	T	8: 95,668,695 (GRCm39)	R504C	probably benign	Het
Ago1	T	C	4: 126,354,246 (GRCm39)	H188R	probably benign	Het
Akap9	T	A	5: 4,025,685 (GRCm39)	C23*	probably null	Het
Ank3	T	C	10: 69,733,920 (GRCm39)	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,508,642 (GRCm39)	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,775,509 (GRCm39)	R84H	probably benign	Het
Arhgef10	A	G	8: 14,995,320 (GRCm39)	D7G	probably null	Het
Arid4b	A	G	13: 14,362,230 (GRCm39)	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,680,281 (GRCm39)	N727S	probably benign	Het
Baalc	G	T	15: 38,796,629 (GRCm39)		probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Chpf2	G	T	5: 24,796,274 (GRCm39)	V407L	probably benign	Het
Chrnb3	C	A	8: 27,876,839 (GRCm39)	N84K	probably damaging	Het
Cnot1	A	G	8: 96,451,221 (GRCm39)	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,485,389 (GRCm39)		probably null	Het
Cux1	T	A	5: 136,361,512 (GRCm39)	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,070,675 (GRCm39)	N286S	probably benign	Het
Dclre1b	T	C	3: 103,716,356 (GRCm39)	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,648,941 (GRCm39)	S221P	probably benign	Het
Dnah1	T	G	14: 31,001,080 (GRCm39)	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,587,702 (GRCm39)		probably null	Het
Erbb2	T	C	11: 98,310,998 (GRCm39)	C53R	probably damaging	Het
Exoc8	A	G	8: 125,622,219 (GRCm39)	V716A	probably benign	Het
Fam193a	T	A	5: 34,619,494 (GRCm39)	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,278 (GRCm39)	G310W	probably damaging	Het
Fcgbp	C	T	7: 27,819,785 (GRCm39)	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,587,876 (GRCm39)	P418L	probably benign	Het
Gjd2	T	C	2: 113,841,539 (GRCm39)	T313A	probably damaging	Het
Gm12695	T	A	4: 96,658,008 (GRCm39)	R54W	probably damaging	Het
Gm128	T	C	3: 95,148,051 (GRCm39)	D81G	possibly damaging	Het
Gm21834	A	G	17: 58,048,763 (GRCm39)	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,636,151 (GRCm39)		probably null	Het
Hcn1	C	T	13: 118,112,619 (GRCm39)	T861I	probably damaging	Het
Herc6	C	A	6: 57,602,961 (GRCm39)	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,027,474 (GRCm39)	L699P	probably damaging	Het
Kank4	T	C	4: 98,668,339 (GRCm39)	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,192,277 (GRCm39)	S295T	probably damaging	Het
Krt18	T	C	15: 101,937,935 (GRCm39)	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,840,030 (GRCm39)	I244V	unknown	Het
Leng1	T	G	7: 3,668,400 (GRCm39)	N16T	probably damaging	Het
Lss	A	G	10: 76,367,712 (GRCm39)	K15E	possibly damaging	Het
Mastl	G	T	2: 23,022,836 (GRCm39)	A629E	possibly damaging	Het
Mavs	G	C	2: 131,082,370 (GRCm39)	A85P	possibly damaging	Het
Nav3	T	C	10: 109,660,536 (GRCm39)	D678G	probably damaging	Het
Nsd3	T	G	8: 26,181,116 (GRCm39)	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,345,002 (GRCm39)	N118S	probably damaging	Het
Nup205	T	A	6: 35,207,451 (GRCm39)	M1501K	probably benign	Het
Or4p7	C	T	2: 88,221,882 (GRCm39)	T97M	possibly damaging	Het
Or6n1	T	A	1: 173,916,785 (GRCm39)	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,326,520 (GRCm39)	S281P	probably benign	Het
Peg3	T	C	7: 6,715,720 (GRCm39)	N117D	probably damaging	Het
Pfkm	A	T	15: 98,029,573 (GRCm39)	D728V	probably benign	Het
Phkb	T	C	8: 86,776,450 (GRCm39)		probably null	Het
Pkp4	T	C	2: 59,165,248 (GRCm39)	V704A	probably benign	Het
Ppfia2	T	A	10: 106,673,160 (GRCm39)	S501T	probably damaging	Het
Ptpru	T	C	4: 131,546,398 (GRCm39)	E284G	possibly damaging	Het
Ror1	C	T	4: 100,265,065 (GRCm39)	R180*	probably null	Het
Ryr3	T	A	2: 112,586,986 (GRCm39)	Y2666F	probably damaging	Het
Sec23a	C	A	12: 59,037,754 (GRCm39)		probably null	Het
Sertad3	C	T	7: 27,175,694 (GRCm39)	Q43*	probably null	Het
Setd2	C	T	9: 110,379,958 (GRCm39)	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,232,407 (GRCm39)	S177P	probably benign	Het
Skap1	T	C	11: 96,432,289 (GRCm39)	F86S	possibly damaging	Het
Slc8a2	T	C	7: 15,874,940 (GRCm39)	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,765,597 (GRCm39)	F329S	probably damaging	Het
Slx4ip	C	T	2: 136,908,125 (GRCm39)	L161F	possibly damaging	Het
Sox4	A	G	13: 29,136,764 (GRCm39)	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,999,118 (GRCm39)	S28R	probably benign	Het
St8sia2	C	T	7: 73,592,950 (GRCm39)	G369S	possibly damaging	Het
Swt1	T	C	1: 151,248,081 (GRCm39)	Y836C	probably damaging	Het
Taar7d	A	G	10: 23,903,904 (GRCm39)	D262G	probably benign	Het
Taar8b	T	A	10: 23,967,212 (GRCm39)	L327F	probably benign	Het
Tars1	A	T	15: 11,393,280 (GRCm39)	L138*	probably null	Het
Tbcd	A	T	11: 121,344,496 (GRCm39)	D75V	probably damaging	Het
Tesc	A	G	5: 118,184,394 (GRCm39)	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,331,264 (GRCm39)	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,377,180 (GRCm39)	A95S	possibly damaging	Het
Tnr	T	C	1: 159,719,603 (GRCm39)	I960T	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,681,453 (GRCm39)	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,585,539 (GRCm39)		probably benign	Het
Triobp	C	A	15: 78,888,740 (GRCm39)	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,684,857 (GRCm39)	I116V	probably benign	Het
Ttc13	A	T	8: 125,398,950 (GRCm39)		probably null	Het
Usp34	A	T	11: 23,414,468 (GRCm39)	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,486,016 (GRCm39)	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,024,766 (GRCm39)	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,220,792 (GRCm39)	Y357C	probably damaging	Het
Zc3h6	T	G	2: 128,857,538 (GRCm39)	S686A	possibly damaging	Het
Zfp608	G	A	18: 55,121,386 (GRCm39)	P67L	probably benign	Het
Zyg11a	T	C	4: 108,049,244 (GRCm39)		probably benign	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
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
R7038:Pds5b	UTSW	5	150,724,225 (GRCm39)	missense	probably benign	0.02
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'- TGAAAACATCTGAGGTCCGG -3'
(R):5'- TGGCAAGAAAACTATGCAATCC -3'

Sequencing Primer
(F):5'- GCCTGGAAACATTCTTCGCAGATG -3'
(R):5'- GCAAGAAAACTATGCAATCCATTTAC -3'

Posted On

2014-09-17