Mutagenetix > Incidental Mutation

Incidental Mutation 'R3025:Cptp'

265796

Institutional Source

Beutler Lab

Gene Symbol

Cptp

Ensembl Gene

ENSMUSG00000029073

Gene Name

ceramide-1-phosphate transfer protein

Synonyms

Gltpd1

MMRRC Submission

040541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R3025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155949180-155953897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155951678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 5 (E5G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030901] [ENSMUST00000030949] [ENSMUST00000030950] [ENSMUST00000120794] [ENSMUST00000151961] [ENSMUST00000156460]

AlphaFold

Q8BS40

Predicted Effect

probably benign
Transcript: ENSMUST00000030901

SMART Domains

Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
Lactamase_B	16	233	3.38e-17	SMART
Beta-Casp	245	363	6.94e-37	SMART
Pfam:RMMBL	376	418	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030949

SMART Domains

Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	72	469	2e-79	PFAM
Pfam:NCD3G	500	552	1.9e-16	PFAM
Pfam:7tm_3	576	821	9.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030950
AA Change: E5G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000030950
Gene: ENSMUSG00000029073
AA Change: E5G

Domain	Start	End	E-Value	Type
Pfam:GLTP	27	179	1.4e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105586
AA Change: E5G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101211
Gene: ENSMUSG00000029073
AA Change: E5G

Domain	Start	End	E-Value	Type
PDB:4KBR\|H	1	35	3e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000120794

SMART Domains

Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
Lactamase_B	16	211	6.42e-9	SMART
Beta-Casp	223	341	6.94e-37	SMART
Pfam:RMMBL	354	396	3.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149458

Predicted Effect

probably benign
Transcript: ENSMUST00000151961
AA Change: E5G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115935
Gene: ENSMUSG00000029073
AA Change: E5G

Domain	Start	End	E-Value	Type
Pfam:GLTP	25	181	1.9e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156266

Predicted Effect

probably benign
Transcript: ENSMUST00000156460

SMART Domains

Protein: ENSMUSP00000118803
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
SCOP:d1smla_	1	66	7e-7	SMART
PDB:2I7V\|A	3	38	1e-9	PDB
Blast:Lactamase_B	16	66	4e-30	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,864,919 (GRCm39)		probably null	Het
Akap6	A	G	12: 53,186,926 (GRCm39)	T1447A	probably benign	Het
Atp13a2	C	T	4: 140,721,659 (GRCm39)	R250C	probably damaging	Het
Cacna1a	T	A	8: 85,306,854 (GRCm39)		probably null	Het
Chd6	GATCAT	GAT	2: 160,808,472 (GRCm39)		probably benign	Het
Dnajc16	C	A	4: 141,501,922 (GRCm39)	V303F	probably benign	Het
Gm10842	T	C	11: 105,037,902 (GRCm39)	S62P	unknown	Het
Gm17509	T	C	13: 117,357,112 (GRCm39)		probably benign	Het
Homer1	C	T	13: 93,538,582 (GRCm39)	Q142*	probably null	Het
Kcnb2	C	A	1: 15,781,059 (GRCm39)	Q644K	possibly damaging	Het
Map3k19	T	C	1: 127,766,290 (GRCm39)		probably null	Het
Msh4	T	A	3: 153,569,128 (GRCm39)	H621L	probably damaging	Het
Ogfod1	A	T	8: 94,789,680 (GRCm39)	E460D	probably damaging	Het
Or6c65	T	A	10: 129,603,542 (GRCm39)	F59Y	probably damaging	Het
Or8k41	A	T	2: 86,314,083 (GRCm39)	M1K	probably null	Het
Rp1	G	A	1: 4,422,898 (GRCm39)	R61W	probably damaging	Het
Scaf4	A	T	16: 90,048,826 (GRCm39)	H329Q	unknown	Het
Sec61a1	A	T	6: 88,489,202 (GRCm39)	D166E	probably damaging	Het
Tars2	C	T	3: 95,654,952 (GRCm39)	R63H	possibly damaging	Het
Vmn1r57	A	T	7: 5,223,714 (GRCm39)	K80*	probably null	Het
Vmn2r106	A	G	17: 20,499,147 (GRCm39)	W255R	probably benign	Het
Wdr49	C	G	3: 75,240,663 (GRCm39)	C402S	possibly damaging	Het

Other mutations in Cptp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1921:Cptp	UTSW	4	155,950,995 (GRCm39)	missense	probably damaging	1.00
R2279:Cptp	UTSW	4	155,950,878 (GRCm39)	missense	probably damaging	0.98
R4154:Cptp	UTSW	4	155,951,657 (GRCm39)	missense	possibly damaging	0.46
R6194:Cptp	UTSW	4	155,951,098 (GRCm39)	missense	probably damaging	1.00
R7455:Cptp	UTSW	4	155,950,957 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAGCCAGATAGTCTGCTAGC -3'
(R):5'- TGAAGGGATAGAACTTCACCGTG -3'

Sequencing Primer
(F):5'- AGATAGTCTGCTAGCTGCTCC -3'
(R):5'- GAACTTCACCGTGATTCTCAGGAG -3'

Posted On

2015-02-05