Mutagenetix > Incidental Mutations

Incidental Mutation 'R5249:Pdcd5'

398792

Institutional Source

Beutler Lab

Gene Symbol

Pdcd5

Ensembl Gene

ENSMUSG00000030417

Gene Name

programmed cell death 5

Synonyms

Tfar19, 2200003D22Rik

MMRRC Submission

042820-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35641982-35647521 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 35646996 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118501] [ENSMUST00000120714]

Predicted Effect

probably benign
Transcript: ENSMUST00000118501

SMART Domains

Protein: ENSMUSP00000113761
Gene: ENSMUSG00000030417

Domain	Start	End	E-Value	Type
Pfam:dsDNA_bind	9	113	9.6e-38	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000120714
AA Change: V63A

SMART Domains

Protein: ENSMUSP00000113013
Gene: ENSMUSG00000030417
AA Change: V63A

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	29	39	N/A	INTRINSIC
low complexity region	56	64	N/A	INTRINSIC
Pfam:dsDNA_bind	91	192	1.9e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151336

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,575,483	*719Q	probably null	Het
2810403A07Rik	T	A	3: 88,696,725	I283N	probably damaging	Het
A4gnt	A	G	9: 99,620,231	H148R	probably damaging	Het
Acrbp	A	G	6: 125,060,922	D394G	probably damaging	Het
Adam18	T	C	8: 24,625,852	T609A	probably benign	Het
Adam25	T	A	8: 40,755,954	N752K	probably benign	Het
Ano6	A	C	15: 95,913,588	S176R	probably benign	Het
Ano7	T	C	1: 93,375,196	S19P	probably benign	Het
Ap1b1	A	G	11: 5,026,364	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,265,637	C46*	probably null	Het
Arhgef26	T	A	3: 62,340,560	L355Q	probably damaging	Het
B4galnt4	C	T	7: 141,065,070	T219I	probably damaging	Het
Bap1	C	T	14: 31,257,286		probably benign	Het
Catip	T	G	1: 74,362,795	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,758,508	R331C	unknown	Het
Cep85l	T	C	10: 53,319,594		probably null	Het
Cfap206	T	A	4: 34,714,502	Q398L	probably benign	Het
Clec18a	A	G	8: 111,073,736	C352R	probably damaging	Het
Clic6	A	T	16: 92,539,451	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,293,073		probably benign	Het
Cyb5r3	A	C	15: 83,158,635		probably benign	Het
Dnah6	C	T	6: 73,113,488	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,902,440	R296L	probably damaging	Het
Dtwd1	C	A	2: 126,154,774	Q60K	probably benign	Het
Esyt1	C	A	10: 128,516,574	V723L	probably benign	Het
Fam71f1	A	G	6: 29,323,897	D207G	probably damaging	Het
Fbxo42	T	C	4: 141,199,024	L339P	probably damaging	Het
Furin	A	T	7: 80,393,421	N347K	probably damaging	Het
Fzd7	T	C	1: 59,483,363	M135T	probably damaging	Het
Hlf	A	G	11: 90,387,806	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,649	Q174*	probably null	Het
Kcnb1	T	A	2: 167,105,183	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692	Y391H	probably damaging	Het
Kif21b	C	T	1: 136,169,228	T1297M	probably damaging	Het
Krt8	T	G	15: 101,998,440	N317T	possibly damaging	Het
Lctl	G	T	9: 64,137,914	V372L	probably benign	Het
Lig1	C	T	7: 13,308,507	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,462,564	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,115,121	H10Y	probably benign	Het
Med1	A	T	11: 98,157,240	M910K	probably benign	Het
Mia2	A	T	12: 59,108,125	D209V	probably damaging	Het
Mpp4	C	T	1: 59,144,858		probably benign	Het
Mrgprb1	A	T	7: 48,447,477	V229E	possibly damaging	Het
Mtor	T	A	4: 148,463,732	C485S	probably damaging	Het
Mx1	T	C	16: 97,457,428	D23G	probably damaging	Het
Myrfl	T	C	10: 116,783,233	D740G	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nav2	G	A	7: 49,535,913	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,461,166	N262K	possibly damaging	Het
Olfr819	C	T	10: 129,966,209	A164T	probably benign	Het
Olfr916	A	G	9: 38,658,078	C105R	possibly damaging	Het
Opa1	A	T	16: 29,618,259	D699V	probably damaging	Het
Otud7a	A	G	7: 63,757,433	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,463,753	D53G	probably benign	Het
Phf21a	C	T	2: 92,228,477	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,108,130	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,779,144		probably benign	Het
Ptprq	T	C	10: 107,699,635	Q423R	probably damaging	Het
Pum1	A	T	4: 130,762,814	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,213,000	D415G	probably benign	Het
Rapgef6	A	G	11: 54,523,117	E23G	probably benign	Het
Rpia	G	T	6: 70,783,579	C121*	probably null	Het
Serpinb13	T	A	1: 106,998,697	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,137,734	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,162,065		probably benign	Het
Slamf6	A	C	1: 171,936,682	N214T	probably damaging	Het
Slc7a2	T	C	8: 40,908,093	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,671,178		probably null	Het
Spink7	A	T	18: 62,592,436	F79I	possibly damaging	Het
Srpk3	C	T	X: 73,774,949	R82*	probably null	Het
Sspo	A	T	6: 48,493,310	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,676,859	K700R	probably benign	Het
Tcf25	G	T	8: 123,388,633	R203L	probably damaging	Het
Tcp11	T	C	17: 28,071,783	I201V	possibly damaging	Het
Tex2	T	C	11: 106,546,789	D685G	unknown	Het
Themis	G	T	10: 28,761,199	E100*	probably null	Het
Tmem52b	G	A	6: 129,514,258		probably null	Het
Tnr	C	T	1: 159,684,656		probably benign	Het
Tox3	T	C	8: 90,248,816	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828	E269V	probably benign	Het
Tulp1	C	T	17: 28,362,677		probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Ube2j2	A	C	4: 155,949,058	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,492,608	M1K	probably null	Het
Vmn2r52	C	A	7: 10,176,270	R6L	probably benign	Het
Zbed4	G	A	15: 88,781,087	V453M	probably benign	Het
Zfp319	T	C	8: 95,328,471	E368G	probably benign	Het
Zfp366	A	C	13: 99,229,609	E426A	probably damaging	Het
Zfp687	A	T	3: 95,009,466	I783N	probably damaging	Het

Other mutations in Pdcd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02447:Pdcd5	APN	7	35642685	missense	possibly damaging	0.95
IGL02954:Pdcd5	APN	7	35643664	missense	probably damaging	1.00
R0825:Pdcd5	UTSW	7	35646913	missense	possibly damaging	0.75
R4426:Pdcd5	UTSW	7	35646180	missense	possibly damaging	0.49
R4614:Pdcd5	UTSW	7	35647047	intron	probably benign
R4860:Pdcd5	UTSW	7	35643710	missense	possibly damaging	0.50
R4860:Pdcd5	UTSW	7	35643710	missense	possibly damaging	0.50
R4984:Pdcd5	UTSW	7	35642685	missense	probably damaging	1.00
R5682:Pdcd5	UTSW	7	35647188	start gained	probably benign
R6384:Pdcd5	UTSW	7	35646909	missense	possibly damaging	0.60
R6787:Pdcd5	UTSW	7	35642638	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCAAGTTTACAACCCGCTAC -3'
(R):5'- ACGAAGAACTTGAGGCGCTG -3'

Sequencing Primer
(F):5'- AAGTTTACAACCCGCTACTCCCTC -3'
(R):5'- AACGTGTGTGTGCCCAC -3'

Posted On

2016-07-06