Mutagenetix > Incidental Mutation

Incidental Mutation 'R6622:Cnppd1'

524485

Institutional Source

Beutler Lab

Gene Symbol

Cnppd1

Ensembl Gene

ENSMUSG00000033159

Gene Name

cyclin Pas1/PHO80 domain containing 1

Synonyms

1810031K17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6622 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

75112406-75119374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75113539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 243 (V243E)

Ref Sequence

ENSEMBL: ENSMUSP00000140289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027405] [ENSMUST00000041213] [ENSMUST00000168720] [ENSMUST00000190679] [ENSMUST00000189403] [ENSMUST00000189809]

AlphaFold

Q8K158

Predicted Effect

probably benign
Transcript: ENSMUST00000027405

SMART Domains

Protein: ENSMUSP00000027405
Gene: ENSMUSG00000026205

Domain	Start	End	E-Value	Type
low complexity region	20	30	N/A	INTRINSIC
Pfam:Xan_ur_permease	50	122	4.6e-12	PFAM
Pfam:Xan_ur_permease	115	476	2.3e-100	PFAM
transmembrane domain	490	512	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000041213
AA Change: V243E

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

SMART Domains

Protein: ENSMUSP00000044799
Gene: ENSMUSG00000033159
AA Change: V243E

Domain	Start	End	E-Value	Type
Pfam:Cyclin	72	174	7.5e-10	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168720
AA Change: V243E

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

SMART Domains

Protein: ENSMUSP00000132688
Gene: ENSMUSG00000033159
AA Change: V243E

Domain	Start	End	E-Value	Type
Pfam:Cyclin	49	174	5.2e-13	PFAM
Pfam:Cyclin_N	55	175	4.4e-6	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189043

Predicted Effect

probably damaging
Transcript: ENSMUST00000190679
AA Change: V243E

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

SMART Domains

Protein: ENSMUSP00000140289
Gene: ENSMUSG00000033159
AA Change: V243E

Domain	Start	End	E-Value	Type
Pfam:Cyclin	49	174	5.2e-13	PFAM
Pfam:Cyclin_N	55	175	4.4e-6	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189403

SMART Domains

Protein: ENSMUSP00000141062
Gene: ENSMUSG00000033159

Domain	Start	End	E-Value	Type
Pfam:Cyclin	44	170	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189809

SMART Domains

Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159

Domain	Start	End	E-Value	Type
Blast:CYCLIN	81	114	1e-10	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	C	5: 81,942,606 (GRCm39)	D1412A	probably benign	Het
Arhgap26	A	G	18: 39,032,916 (GRCm39)		probably benign	Het
Card14	A	G	11: 119,224,814 (GRCm39)	M614V	probably benign	Het
Cbx2	A	G	11: 118,919,961 (GRCm39)	T509A	probably damaging	Het
Cep135	A	G	5: 76,788,815 (GRCm39)	D1136G	probably benign	Het
Cep170	T	A	1: 176,583,898 (GRCm39)	Q827L	probably damaging	Het
Clock	A	T	5: 76,389,801 (GRCm39)	I349K	probably damaging	Het
Cops3	A	G	11: 59,723,960 (GRCm39)	F93L	probably damaging	Het
Cplane1	C	A	15: 8,273,706 (GRCm39)	A2563D	probably damaging	Het
Cxxc5	T	G	18: 35,992,372 (GRCm39)	C258G	possibly damaging	Het
Cycs	G	A	6: 50,543,443 (GRCm39)		probably benign	Het
Cyp2c40	A	T	19: 39,790,990 (GRCm39)	H280Q	probably damaging	Het
Cyp4f14	C	T	17: 33,133,619 (GRCm39)	R79H	probably benign	Het
Dnajc27	A	G	12: 4,153,114 (GRCm39)	S197G	probably benign	Het
Dscam	C	T	16: 96,446,273 (GRCm39)	G1456E	probably benign	Het
Dst	G	A	1: 34,218,332 (GRCm39)	V1591I	probably benign	Het
Epha5	A	G	5: 84,385,387 (GRCm39)	S315P	possibly damaging	Het
Frmd4a	A	G	2: 4,610,873 (GRCm39)	T1012A	probably benign	Het
Fxr2	G	A	11: 69,532,416 (GRCm39)		probably null	Het
Hcn4	T	A	9: 58,765,010 (GRCm39)	V534E	unknown	Het
Hrh4	A	G	18: 13,155,454 (GRCm39)	Y331C	probably damaging	Het
Insyn1	A	G	9: 58,406,533 (GRCm39)	I148V	probably benign	Het
Kif16b	T	A	2: 142,554,362 (GRCm39)	H812L	probably benign	Het
Krt14	T	A	11: 100,094,786 (GRCm39)	R451S	probably benign	Het
Man2b1	A	G	8: 85,811,108 (GRCm39)	T80A	probably damaging	Het
Nedd4l	A	G	18: 65,307,305 (GRCm39)	T383A	probably damaging	Het
Pcdha9	T	A	18: 37,131,707 (GRCm39)	L259M	possibly damaging	Het
Pdgfd	T	C	9: 6,293,818 (GRCm39)	C131R	probably damaging	Het
Prrc2a	C	G	17: 35,374,396 (GRCm39)	R1418P	probably damaging	Het
Ptpra	G	T	2: 30,327,589 (GRCm39)	E114D	probably damaging	Het
Ptprt	A	T	2: 161,395,760 (GRCm39)	C1157S	probably damaging	Het
Rnf126	A	T	10: 79,597,397 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sel1l3	A	G	5: 53,297,202 (GRCm39)	V748A	probably damaging	Het
Serinc5	T	A	13: 92,825,194 (GRCm39)	S208T	probably benign	Het
Sftpb	A	G	6: 72,282,639 (GRCm39)	I74V	possibly damaging	Het
Slc22a14	A	C	9: 118,999,643 (GRCm39)	I516S	possibly damaging	Het
Slco2a1	G	A	9: 102,951,704 (GRCm39)	C411Y	possibly damaging	Het
Spata31f1e	T	A	4: 42,793,111 (GRCm39)	L340F	probably damaging	Het
Tent5a	G	T	9: 85,208,509 (GRCm39)	R105S	probably damaging	Het
Tet3	G	A	6: 83,380,426 (GRCm39)	P581S	probably benign	Het
Tmem231	T	C	8: 112,645,563 (GRCm39)	D112G	probably damaging	Het
Tnrc6b	T	A	15: 80,763,385 (GRCm39)	W296R	probably damaging	Het
Trpm1	T	A	7: 63,890,343 (GRCm39)	L982H	probably damaging	Het
Ttn	C	A	2: 76,550,862 (GRCm39)	R23183I	possibly damaging	Het
Tuft1	T	A	3: 94,542,726 (GRCm39)	Y46F	probably damaging	Het
Vmn1r167	T	A	7: 23,205,014 (GRCm39)	M1L	probably null	Het
Zfp808	A	G	13: 62,319,646 (GRCm39)	R292G	possibly damaging	Het
Zp2	T	C	7: 119,731,748 (GRCm39)	E669G	probably benign	Het
Zp2	C	T	7: 119,741,136 (GRCm39)	M129I	probably benign	Het

Other mutations in Cnppd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01820:Cnppd1	APN	1	75,116,236 (GRCm39)	splice site	probably null
R0279:Cnppd1	UTSW	1	75,113,573 (GRCm39)	missense	probably damaging	0.97
R4843:Cnppd1	UTSW	1	75,113,086 (GRCm39)	missense	probably benign
R5860:Cnppd1	UTSW	1	75,113,131 (GRCm39)	missense	probably benign
R7301:Cnppd1	UTSW	1	75,113,068 (GRCm39)	missense	probably damaging	1.00
R8852:Cnppd1	UTSW	1	75,113,063 (GRCm39)	missense	probably damaging	1.00
R8860:Cnppd1	UTSW	1	75,113,063 (GRCm39)	missense	probably damaging	1.00
R8967:Cnppd1	UTSW	1	75,113,265 (GRCm39)	nonsense	probably null
R9231:Cnppd1	UTSW	1	75,116,261 (GRCm39)	missense	possibly damaging	0.46
R9367:Cnppd1	UTSW	1	75,117,617 (GRCm39)	missense	probably benign	0.00
Z1176:Cnppd1	UTSW	1	75,117,595 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGCAAAGGGGACATTTGTG -3'
(R):5'- TCTCAGAAGAAGTTGAGACTAGATG -3'

Sequencing Primer
(F):5'- TGATGGCAAGTCTACACTGC -3'
(R):5'- TTGAGACTAGATGGGAGGGTG -3'

Posted On

2018-06-22