Mutagenetix > Incidental Mutation

Incidental Mutation 'R3082:Pitpnc1'

265495

Institutional Source

Beutler Lab

Gene Symbol

Pitpnc1

Ensembl Gene

ENSMUSG00000040430

Gene Name

phosphatidylinositol transfer protein, cytoplasmic 1

Synonyms

RDGB-BETA, 1110020B03Rik, 5830436L09Rik, RDGBB1, C330017I21Rik

MMRRC Submission

040572-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R3082 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107098718-107361525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107103350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 250 (S250P)

Ref Sequence

ENSEMBL: ENSMUSP00000046337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040380] [ENSMUST00000103064]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040380
AA Change: S250P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046337
Gene: ENSMUSG00000040430
AA Change: S250P

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	220	6.1e-98	PFAM
low complexity region	230	258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103064

SMART Domains

Protein: ENSMUSP00000099353
Gene: ENSMUSG00000040430

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	245	9.4e-88	PFAM

Meta Mutation Damage Score

0.1044

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,859,576 (GRCm39)	V341A	possibly damaging	Het
Adam11	T	C	11: 102,660,943 (GRCm39)		probably benign	Het
Aox1	G	T	1: 58,322,759 (GRCm39)		probably benign	Het
Cdh6	T	C	15: 13,044,838 (GRCm39)	D428G	probably damaging	Het
Cep63	T	C	9: 102,479,696 (GRCm39)	T339A	probably benign	Het
Clcn1	T	C	6: 42,267,112 (GRCm39)	Y66H	probably damaging	Het
Cpsf2	C	G	12: 101,955,069 (GRCm39)	S280C	probably damaging	Het
Dcaf6	G	T	1: 165,250,421 (GRCm39)		probably benign	Het
Ddx39a	T	A	8: 84,449,335 (GRCm39)	N344K	possibly damaging	Het
Dvl1	T	C	4: 155,932,316 (GRCm39)	V42A	possibly damaging	Het
Ep400	A	G	5: 110,841,096 (GRCm39)		probably benign	Het
Epb41l5	C	T	1: 119,536,992 (GRCm39)	V300I	probably damaging	Het
Fbln1	T	G	15: 85,149,454 (GRCm39)	I617S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Grin3a	G	A	4: 49,665,243 (GRCm39)	R1131W	probably benign	Het
Incenp	T	A	19: 9,861,143 (GRCm39)	M480L	unknown	Het
Ints13	G	T	6: 146,476,205 (GRCm39)	Q99K	possibly damaging	Het
L2hgdh	C	T	12: 69,768,858 (GRCm39)	D85N	probably benign	Het
Lct	A	G	1: 128,215,345 (GRCm39)	Y1744H	probably damaging	Het
Macf1	T	C	4: 123,255,236 (GRCm39)		probably null	Het
Mpdz	A	T	4: 81,203,695 (GRCm39)		probably benign	Het
Naa15	T	C	3: 51,367,471 (GRCm39)	L498P	probably damaging	Het
Naip6	T	A	13: 100,452,925 (GRCm39)	E45D	probably benign	Het
Nedd4l	T	A	18: 65,312,049 (GRCm39)	N405K	probably benign	Het
Or4l15	A	G	14: 50,198,161 (GRCm39)	Y123H	probably damaging	Het
Or8u10	C	T	2: 85,916,053 (GRCm39)	V23I	probably benign	Het
Ppp1r18	A	G	17: 36,184,742 (GRCm39)	D131G	probably damaging	Het
Prdm5	A	G	6: 65,913,069 (GRCm39)	D206G	probably damaging	Het
Pygl	A	G	12: 70,244,303 (GRCm39)	F455S	probably damaging	Het
Rictor	A	T	15: 6,804,338 (GRCm39)	Y565F	probably benign	Het
Ryr1	T	C	7: 28,745,071 (GRCm39)	N3852D	probably damaging	Het
S1pr5	A	T	9: 21,156,286 (GRCm39)	C47S	probably damaging	Het
Serpinf2	T	C	11: 75,328,354 (GRCm39)	R65G	probably benign	Het
Slfn14	C	T	11: 83,167,519 (GRCm39)	W665*	probably null	Het
Smu1	T	C	4: 40,745,567 (GRCm39)	D251G	probably damaging	Het
Spata18	A	G	5: 73,836,423 (GRCm39)		probably benign	Het
Tex19.2	A	G	11: 121,007,557 (GRCm39)	V297A	probably benign	Het
Tmem131l	A	G	3: 83,816,457 (GRCm39)		probably null	Het
Trim9	T	C	12: 70,301,887 (GRCm39)	R584G	possibly damaging	Het
Trpm7	A	T	2: 126,686,342 (GRCm39)	N295K	possibly damaging	Het
Ugt2a3	A	G	5: 87,473,534 (GRCm39)	V461A	probably benign	Het
Vmn1r45	A	T	6: 89,910,724 (GRCm39)	M82K	probably benign	Het

Other mutations in Pitpnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Pitpnc1	APN	11	107,103,469 (GRCm39)	missense	possibly damaging	0.89
IGL02565:Pitpnc1	APN	11	107,187,059 (GRCm39)	missense	probably damaging	1.00
IGL03123:Pitpnc1	APN	11	107,228,237 (GRCm39)	critical splice donor site	probably null
R1674:Pitpnc1	UTSW	11	107,117,071 (GRCm39)	missense	possibly damaging	0.81
R2147:Pitpnc1	UTSW	11	107,103,344 (GRCm39)	missense	probably damaging	0.98
R3857:Pitpnc1	UTSW	11	107,211,631 (GRCm39)	splice site	probably null
R4449:Pitpnc1	UTSW	11	107,107,535 (GRCm39)	missense	probably benign	0.01
R5044:Pitpnc1	UTSW	11	107,187,054 (GRCm39)	missense	possibly damaging	0.90
R5076:Pitpnc1	UTSW	11	107,187,093 (GRCm39)	missense	probably damaging	1.00
R5729:Pitpnc1	UTSW	11	107,228,264 (GRCm39)	missense	probably benign	0.00
R6267:Pitpnc1	UTSW	11	107,117,092 (GRCm39)	missense	probably damaging	1.00
R6296:Pitpnc1	UTSW	11	107,117,092 (GRCm39)	missense	probably damaging	1.00
R6597:Pitpnc1	UTSW	11	107,117,058 (GRCm39)	nonsense	probably null
R7411:Pitpnc1	UTSW	11	107,103,398 (GRCm39)	missense	probably damaging	0.99
R8804:Pitpnc1	UTSW	11	107,103,431 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGACATGGCTTTTCGGAAG -3'
(R):5'- GGTAGGCATCAGCTTCATGG -3'

Sequencing Primer
(F):5'- CTTTTCGGAAGTGTAGACGCCAG -3'
(R):5'- CATGGTAGTGTCCCCAGATTTAGC -3'

Posted On

2015-02-05