Mutagenetix > Incidental Mutation

Incidental Mutation 'R0549:Cnpy4'

45018

Institutional Source

Beutler Lab

Gene Symbol

Cnpy4

Ensembl Gene

ENSMUSG00000036968

Gene Name

canopy FGF signaling regulator 4

Synonyms

2610019P18Rik

MMRRC Submission

038741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R0549 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138185768-138192180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138185899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 18 (F18S)

Ref Sequence

ENSEMBL: ENSMUSP00000106559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048698] [ENSMUST00000110932] [ENSMUST00000110934] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000123415] [ENSMUST00000139276] [ENSMUST00000153117]

AlphaFold

Q8BQ47

Predicted Effect

probably benign
Transcript: ENSMUST00000048698

SMART Domains

Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:DUF1546	308	399	1e-35	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	578	N/A	INTRINSIC
low complexity region	586	602	N/A	INTRINSIC
low complexity region	615	646	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110932

SMART Domains

Protein: ENSMUSP00000106557
Gene: ENSMUSG00000036968

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:DUF3456	32	160	9.5e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110934
AA Change: F18S

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106559
Gene: ENSMUSG00000036968
AA Change: F18S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:DUF3456	43	202	3.4e-51	PFAM
low complexity region	218	230	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110936

SMART Domains

Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:TAF6_C	308	397	1.1e-33	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	578	N/A	INTRINSIC
low complexity region	586	602	N/A	INTRINSIC
low complexity region	615	646	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110937

SMART Domains

Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
Pfam:DUF1546	308	399	1.9e-36	PFAM
low complexity region	466	476	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	542	549	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
low complexity region	606	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123415

SMART Domains

Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART
low complexity region	142	161	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200483

Predicted Effect

probably benign
Transcript: ENSMUST00000139276

SMART Domains

Protein: ENSMUSP00000116512
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
Pfam:TAF	11	55	2.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153117

SMART Domains

Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980

Domain	Start	End	E-Value	Type
TAF	12	78	1.44e-35	SMART

Meta Mutation Damage Score

0.3141

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

Validation Efficiency

96% (48/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,633,216 (GRCm39)	F498L	probably damaging	Het
Adamts6	A	T	13: 104,433,763 (GRCm39)	D64V	possibly damaging	Het
Agbl2	T	C	2: 90,620,187 (GRCm39)		probably benign	Het
Angptl3	A	G	4: 98,919,692 (GRCm39)	S151G	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
C4b	G	T	17: 34,954,389 (GRCm39)	L927I	probably damaging	Het
Ccl3	T	C	11: 83,539,162 (GRCm39)	T66A	probably damaging	Het
Cdh20	T	C	1: 110,036,674 (GRCm39)	L618P	probably damaging	Het
Cfap65	T	C	1: 74,957,603 (GRCm39)	T989A	probably benign	Het
Cfhr4	A	T	1: 139,667,226 (GRCm39)	D377E	probably damaging	Het
Col6a5	A	G	9: 105,781,778 (GRCm39)		probably benign	Het
Dppa2	G	A	16: 48,139,034 (GRCm39)	R289H	probably benign	Het
Evx2	T	C	2: 74,489,478 (GRCm39)	T96A	probably benign	Het
Frmd4a	A	G	2: 4,608,778 (GRCm39)	E577G	possibly damaging	Het
Gcgr	G	A	11: 120,427,387 (GRCm39)	G166S	probably benign	Het
Gm5316	T	C	6: 122,877,150 (GRCm39)		noncoding transcript	Het
Gria1	G	A	11: 57,119,799 (GRCm39)	R292Q	probably damaging	Het
Hars2	T	A	18: 36,919,261 (GRCm39)		probably null	Het
Hkdc1	T	A	10: 62,236,019 (GRCm39)	T508S	probably benign	Het
Kif2b	A	T	11: 91,467,410 (GRCm39)	I291N	probably damaging	Het
Lmbrd1	A	T	1: 24,784,001 (GRCm39)	T377S	probably benign	Het
Lrrc28	A	G	7: 67,278,090 (GRCm39)		probably benign	Het
Mmp3	A	T	9: 7,455,638 (GRCm39)	N463I	probably benign	Het
Myh6	A	G	14: 55,196,065 (GRCm39)	F578S	probably damaging	Het
Ncbp1	T	A	4: 46,168,476 (GRCm39)	M608K	possibly damaging	Het
Nf1	T	C	11: 79,359,597 (GRCm39)	F1412L	probably damaging	Het
Nlrp5	T	A	7: 23,141,227 (GRCm39)	W1083R	probably damaging	Het
Nrsn1	T	C	13: 25,446,241 (GRCm39)	Y45C	probably benign	Het
Or3a1b	T	G	11: 74,012,301 (GRCm39)	M62R	probably damaging	Het
Osbpl7	G	T	11: 96,958,368 (GRCm39)	R881L	probably damaging	Het
Papss1	A	G	3: 131,324,974 (GRCm39)	E456G	possibly damaging	Het
Pbxip1	T	A	3: 89,350,899 (GRCm39)		probably benign	Het
Pcca	A	G	14: 122,875,789 (GRCm39)		probably benign	Het
Pde1a	T	A	2: 79,695,414 (GRCm39)	N511I	probably damaging	Het
Prpf39	A	T	12: 65,103,030 (GRCm39)	I435F	probably benign	Het
Rnf213	C	T	11: 119,355,908 (GRCm39)	T4117M	probably damaging	Het
Sel1l2	A	T	2: 140,107,802 (GRCm39)	M216K	probably damaging	Het
Sidt2	A	G	9: 45,864,417 (GRCm39)		probably null	Het
Sirt3	A	T	7: 140,449,400 (GRCm39)		probably null	Het
Smpd4	T	C	16: 17,457,176 (GRCm39)	V378A	probably benign	Het
Svil	T	A	18: 5,064,566 (GRCm39)	S642T	possibly damaging	Het
Tcp10a	A	G	17: 7,593,950 (GRCm39)	K92E	probably benign	Het
Tmem144	T	C	3: 79,730,051 (GRCm39)	D233G	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnik	T	C	3: 28,625,069 (GRCm39)	S335P	possibly damaging	Het
Ush2a	T	C	1: 188,679,150 (GRCm39)	L4786P	probably damaging	Het
Utp11	A	T	4: 124,579,872 (GRCm39)		probably benign	Het
Vmn1r67	A	G	7: 10,181,641 (GRCm39)	N241D	probably damaging	Het
Vmn2r11	A	T	5: 109,199,963 (GRCm39)	C497S	possibly damaging	Het

Other mutations in Cnpy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02247:Cnpy4	APN	5	138,191,125 (GRCm39)	missense	probably benign	0.00
R0317:Cnpy4	UTSW	5	138,191,074 (GRCm39)	nonsense	probably null
R0525:Cnpy4	UTSW	5	138,190,878 (GRCm39)	missense	probably benign	0.45
R0568:Cnpy4	UTSW	5	138,190,839 (GRCm39)	missense	probably damaging	1.00
R1889:Cnpy4	UTSW	5	138,191,102 (GRCm39)	missense	probably benign	0.06
R2285:Cnpy4	UTSW	5	138,191,087 (GRCm39)	splice site	probably null
R4272:Cnpy4	UTSW	5	138,190,853 (GRCm39)	missense	probably damaging	0.98
R6682:Cnpy4	UTSW	5	138,185,984 (GRCm39)	critical splice donor site	probably null
R7283:Cnpy4	UTSW	5	138,191,144 (GRCm39)	missense	probably benign	0.00
R7787:Cnpy4	UTSW	5	138,190,900 (GRCm39)	missense	probably benign
R8087:Cnpy4	UTSW	5	138,188,532 (GRCm39)	missense	probably damaging	1.00
X0065:Cnpy4	UTSW	5	138,190,854 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TCACGGATACACCTCAGACTTTCCC -3'
(R):5'- TTCAGCCTAGAGTTAGAGAGGCAGG -3'

Sequencing Primer
(F):5'- TGTCAGGACCTTCAGAAGGC -3'
(R):5'- CTAGAGTTAGAGAGGCAGGAGGTAG -3'

Posted On

2013-06-11