Mutagenetix > Incidental Mutation

Incidental Mutation 'R4154:Cptp'

315038

Institutional Source

Beutler Lab

Gene Symbol

Cptp

Ensembl Gene

ENSMUSG00000029073

Gene Name

ceramide-1-phosphate transfer protein

Synonyms

Gltpd1

MMRRC Submission

040998-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R4154 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155949180-155953897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155951657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 12 (V12A)

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: V12A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030950
Gene: ENSMUSG00000029073
AA Change: V12A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105586
AA Change: V12A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101211
Gene: ENSMUSG00000029073
AA Change: V12A

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: V12A

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115935
Gene: ENSMUSG00000029073
AA Change: V12A

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

Meta Mutation Damage Score

0.1210

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI593442	A	T	9: 52,589,204 (GRCm39)	H124Q	probably benign	Het
Asph	C	T	4: 9,639,250 (GRCm39)	W38*	probably null	Het
Bicdl2	A	G	17: 23,885,066 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,444,668 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Crim1	A	G	17: 78,545,272 (GRCm39)	I145V	probably benign	Het
Ctsc	G	A	7: 87,948,755 (GRCm39)	M195I	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Fas	T	G	19: 34,296,228 (GRCm39)	I180S	possibly damaging	Het
Fsip2	A	C	2: 82,817,413 (GRCm39)	E4382A	possibly damaging	Het
Galnt5	T	G	2: 57,888,505 (GRCm39)	L35R	probably damaging	Het
Gfpt2	G	A	11: 49,726,605 (GRCm39)		probably null	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
Gm14496	A	T	2: 181,636,872 (GRCm39)	H110L	probably benign	Het
Golm1	A	G	13: 59,790,167 (GRCm39)	V211A	probably benign	Het
Gsc2	TGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAG	16: 17,732,666 (GRCm39)		probably benign	Het
Ighv1-72	A	T	12: 115,722,017 (GRCm39)	M7K	probably benign	Het
Igkv12-44	C	T	6: 69,791,639 (GRCm39)	C108Y	possibly damaging	Het
Lum	T	C	10: 97,404,815 (GRCm39)	S237P	probably damaging	Het
Macf1	T	C	4: 123,365,606 (GRCm39)	K3052E	probably damaging	Het
Mdn1	A	G	4: 32,707,475 (GRCm39)	E1588G	probably damaging	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nucb2	A	G	7: 116,126,902 (GRCm39)	T172A	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Pard3	G	T	8: 128,200,877 (GRCm39)	R978L	probably damaging	Het
Pcdha4	A	G	18: 37,086,639 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Pik3c3	G	A	18: 30,444,336 (GRCm39)	M516I	probably benign	Het
Plxnb2	A	G	15: 89,043,845 (GRCm39)	F1336L	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	C	12: 82,471,988 (GRCm39)	G1323R	possibly damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Spef2	T	C	15: 9,626,107 (GRCm39)	K1153R	probably benign	Het
Strn3	C	T	12: 51,673,914 (GRCm39)	V566M	probably damaging	Het
Svep1	A	G	4: 58,069,068 (GRCm39)	F2906S	possibly damaging	Het
Tbc1d8	C	T	1: 39,425,216 (GRCm39)	V545M	probably damaging	Het
Tmem131	T	C	1: 36,847,874 (GRCm39)		probably benign	Het
Tnfsf8	A	G	4: 63,752,595 (GRCm39)	S157P	probably benign	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Vat1l	G	C	8: 114,932,543 (GRCm39)	G30R	possibly damaging	Het
Vegfb	T	C	19: 6,963,446 (GRCm39)	Y106C	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	Het
Zc3h15	T	C	2: 83,488,913 (GRCm39)	V161A	probably benign	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
R3025:Cptp	UTSW	4	155,951,678 (GRCm39)	missense	possibly damaging	0.82
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'- ATAGTCTGCTAGCTGCTCCC -3'
(R):5'- ACTCAGGTGAAGGGATAGAACTTC -3'

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

Posted On

2015-05-14