Mutagenetix > Incidental Mutation

Incidental Mutation 'R0525:Cnpy4'

48838

Institutional Source

Beutler Lab

Gene Symbol

Cnpy4

Ensembl Gene

ENSMUSG00000036968

Gene Name

canopy FGF signaling regulator 4

Synonyms

2610019P18Rik

MMRRC Submission

038718-MU

Accession Numbers

Essential gene?

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

Stock #

R0525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138185768-138192180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138190878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 180 (H180L)

Ref Sequence

ENSEMBL: ENSMUSP00000106559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057773] [ENSMUST00000110932] [ENSMUST00000110934]

AlphaFold

Q8BQ47

Predicted Effect

probably benign
Transcript: ENSMUST00000057773

SMART Domains

Protein: ENSMUSP00000052869
Gene: ENSMUSG00000049285

Domain	Start	End	E-Value	Type
Lactamase_B	70	235	4.04e-6	SMART

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

probably benign
Transcript: ENSMUST00000110934
AA Change: H180L

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106559
Gene: ENSMUSG00000036968
AA Change: H180L

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

noncoding transcript
Transcript: ENSMUST00000130126

Meta Mutation Damage Score

0.2587

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	A	7: 124,930,671 (GRCm39)		noncoding transcript	Het
A930002H24Rik	A	G	17: 64,170,642 (GRCm39)	W49R	unknown	Het
Abca13	G	A	11: 9,243,371 (GRCm39)	V1745M	probably damaging	Het
Abca16	T	G	7: 120,065,033 (GRCm39)	Y563*	probably null	Het
Acot12	C	T	13: 91,908,186 (GRCm39)		probably benign	Het
Alms1	G	A	6: 85,564,742 (GRCm39)	A39T	unknown	Het
Arid5b	T	C	10: 67,933,676 (GRCm39)	D742G	possibly damaging	Het
Atp1a4	G	A	1: 172,067,255 (GRCm39)		probably benign	Het
AU021092	T	A	16: 5,035,725 (GRCm39)	E145V	possibly damaging	Het
Calr4	A	T	4: 109,099,461 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,106,093 (GRCm39)		probably null	Het
Cyp2j9	T	C	4: 96,467,802 (GRCm39)		probably null	Het
Dgkq	A	G	5: 108,802,481 (GRCm39)	S406P	probably damaging	Het
Dhx8	G	A	11: 101,654,754 (GRCm39)	C1014Y	probably damaging	Het
Dnah3	T	C	7: 119,527,977 (GRCm39)	Y3824C	probably damaging	Het
Donson	A	T	16: 91,483,133 (GRCm39)	H69Q	probably damaging	Het
Dppa3	A	G	6: 122,606,939 (GRCm39)	E143G	probably damaging	Het
Drg1	A	G	11: 3,212,545 (GRCm39)	F96L	probably damaging	Het
Dvl1	A	C	4: 155,940,052 (GRCm39)	T395P	probably damaging	Het
Eftud2	A	T	11: 102,730,079 (GRCm39)	V897D	probably damaging	Het
Enpp6	A	G	8: 47,535,478 (GRCm39)	N341S	possibly damaging	Het
F11	A	G	8: 45,706,086 (GRCm39)	F100L	probably benign	Het
Fas	T	C	19: 34,296,727 (GRCm39)	Y189H	probably damaging	Het
Galnt14	G	T	17: 73,852,076 (GRCm39)	S114R	probably damaging	Het
Gfpt2	A	G	11: 49,720,602 (GRCm39)	I528V	probably benign	Het
Glt6d1	A	G	2: 25,684,280 (GRCm39)	V242A	possibly damaging	Het
Grm1	A	T	10: 10,594,953 (GRCm39)		probably benign	Het
Gskip	G	A	12: 105,665,224 (GRCm39)	A88T	probably damaging	Het
Gtpbp1	A	G	15: 79,597,648 (GRCm39)	I348V	probably benign	Het
Hnrnpul1	C	A	7: 25,440,308 (GRCm39)	R316L	possibly damaging	Het
Il34	T	C	8: 111,474,915 (GRCm39)	E121G	probably damaging	Het
Lrr1	T	C	12: 69,215,685 (GRCm39)	L19P	probably damaging	Het
Mat2b	A	G	11: 40,573,496 (GRCm39)		probably benign	Het
Mettl21e	T	C	1: 44,245,542 (GRCm39)	K235E	probably damaging	Het
Mir124-2hg	T	A	3: 17,839,693 (GRCm39)	E126V	possibly damaging	Het
Myh15	A	G	16: 48,952,414 (GRCm39)	K828R	probably benign	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Nek5	C	A	8: 22,569,093 (GRCm39)		probably benign	Het
Nudt7	A	T	8: 114,878,392 (GRCm39)		probably null	Het
Or10ag56	A	T	2: 87,139,693 (GRCm39)	T187S	probably benign	Het
Or10d4c	T	G	9: 39,558,767 (GRCm39)	C248W	probably damaging	Het
Or1j4	T	C	2: 36,740,202 (GRCm39)	L48P	probably damaging	Het
Or4a67	G	A	2: 88,597,658 (GRCm39)	Q334*	probably null	Het
Or8k23	C	T	2: 86,186,619 (GRCm39)	V36I	probably benign	Het
Phyhd1	A	G	2: 30,171,040 (GRCm39)	H241R	probably damaging	Het
Pmch	T	C	10: 87,927,262 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,717 (GRCm39)	S697G	probably damaging	Het
Rslcan18	A	G	13: 67,260,322 (GRCm39)	V25A	probably benign	Het
Sema6b	T	C	17: 56,433,630 (GRCm39)	H426R	probably damaging	Het
Serpina3g	T	C	12: 104,204,598 (GRCm39)	F9S	probably damaging	Het
Serpinb12	T	A	1: 106,874,432 (GRCm39)	H52Q	probably benign	Het
Sh3gl1	T	C	17: 56,324,873 (GRCm39)	K294R	probably benign	Het
Sidt1	G	T	16: 44,079,809 (GRCm39)	T615K	possibly damaging	Het
Slc16a4	A	C	3: 107,205,255 (GRCm39)		probably benign	Het
Sned1	T	A	1: 93,199,696 (GRCm39)		probably null	Het
Sp2	A	T	11: 96,846,924 (GRCm39)		probably benign	Het
Steap1	T	A	5: 5,792,903 (GRCm39)	I3F	possibly damaging	Het
Stxbp5l	A	T	16: 36,950,159 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,995,614 (GRCm39)	V968F	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Triobp	T	C	15: 78,858,098 (GRCm39)	L1233P	possibly damaging	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpc4ap	A	G	2: 155,482,398 (GRCm39)	F531L	possibly damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Vmn1r86	T	C	7: 12,836,088 (GRCm39)	K213E	probably benign	Het
Vps8	G	A	16: 21,358,859 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,903,525 (GRCm39)	S2563T	probably damaging	Het
Yrdc	C	G	4: 124,745,559 (GRCm39)	R3G	probably damaging	Het
Zfp287	A	T	11: 62,606,070 (GRCm39)	V279E	probably benign	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
R0549:Cnpy4	UTSW	5	138,185,899 (GRCm39)	missense	possibly damaging	0.63
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'- GCGTCTTGAAAGCCAAGTGTAACC -3'
(R):5'- ACCCTGAAGGCAAAACTTGCTTCTG -3'

Sequencing Primer
(F):5'- CAAGTGTAACCTTTTGGTTGCC -3'
(R):5'- tcttcttcttcttcctcctcttc -3'

Posted On

2013-06-12