Mutagenetix > Incidental Mutation

Incidental Mutation 'R5044:Pitpnc1'

394269

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

042634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5044 (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 107187054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 90 (Y90H)

Ref Sequence

ENSEMBL: ENSMUSP00000046337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040380] [ENSMUST00000103064] [ENSMUST00000134763]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040380
AA Change: Y90H

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046337
Gene: ENSMUSG00000040430
AA Change: Y90H

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

possibly damaging
Transcript: ENSMUST00000103064
AA Change: Y113H

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099353
Gene: ENSMUSG00000040430
AA Change: Y113H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134763
AA Change: Y90H

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122609
Gene: ENSMUSG00000040430
AA Change: Y90H

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	196	8.5e-63	PFAM

Meta Mutation Damage Score

0.1339

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,323 (GRCm39)	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,304,088 (GRCm39)	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,588,960 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,637,050 (GRCm39)	C3464R	probably benign	Het
Apbb1	A	T	7: 105,214,889 (GRCm39)		probably benign	Het
Cad	A	G	5: 31,212,365 (GRCm39)	T23A	probably benign	Het
Cdca7	A	G	2: 72,313,759 (GRCm39)	R183G	probably benign	Het
Cdpf1	T	C	15: 85,693,513 (GRCm39)	T5A	probably benign	Het
Cep85	T	C	4: 133,883,490 (GRCm39)	D133G	probably damaging	Het
Chrna9	T	C	5: 66,128,359 (GRCm39)	L189P	probably damaging	Het
Clca3a1	A	C	3: 144,713,689 (GRCm39)		probably null	Het
Cntn1	G	T	15: 92,140,876 (GRCm39)	V201F	probably damaging	Het
Col4a3	A	G	1: 82,644,267 (GRCm39)	E352G	unknown	Het
Ddhd2	T	C	8: 26,242,164 (GRCm39)	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,014,605 (GRCm39)	F3609V	probably benign	Het
Epha3	T	C	16: 63,422,650 (GRCm39)	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,334,560 (GRCm39)	N878S	probably benign	Het
Fbn1	T	G	2: 125,171,022 (GRCm39)	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,431,969 (GRCm39)	V234A	probably damaging	Het
Garin5b	T	C	7: 4,761,660 (GRCm39)	N351D	probably benign	Het
Glt1d1	A	T	5: 127,721,478 (GRCm39)	N55I	probably benign	Het
Gm17641	C	A	3: 68,776,807 (GRCm39)		probably benign	Het
Gm7665	A	G	18: 16,407,788 (GRCm39)		noncoding transcript	Het
Hgf	A	C	5: 16,819,892 (GRCm39)	N541T	probably benign	Het
Hipk2	G	A	6: 38,795,814 (GRCm39)	P152S	probably benign	Het
Jarid2	C	T	13: 45,060,041 (GRCm39)	L720F	probably damaging	Het
Kifc5b	A	G	17: 27,143,761 (GRCm39)	E511G	probably damaging	Het
Ldlr	G	A	9: 21,646,538 (GRCm39)	A235T	probably benign	Het
Lmln	A	G	16: 32,894,550 (GRCm39)	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,403,364 (GRCm39)	C2070R	probably damaging	Het
Mbl1	A	G	14: 40,880,681 (GRCm39)	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,299,934 (GRCm39)	S355T	probably benign	Het
Muc19	C	T	15: 91,772,332 (GRCm39)		noncoding transcript	Het
Mycbp2	A	C	14: 103,376,671 (GRCm39)		probably null	Het
Naa20	T	C	2: 145,757,762 (GRCm39)	S164P	probably damaging	Het
Nme4	A	T	17: 26,312,807 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,386,587 (GRCm39)	R619*	probably null	Het
Nudt19	G	A	7: 35,255,171 (GRCm39)	T20I	possibly damaging	Het
Or4c119	T	A	2: 88,987,283 (GRCm39)	K79*	probably null	Het
Or5b97	A	G	19: 12,878,365 (GRCm39)	Y260H	probably damaging	Het
Rcor2	A	G	19: 7,247,150 (GRCm39)	T6A	probably benign	Het
Rif1	T	A	2: 51,999,940 (GRCm39)	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,127,972 (GRCm39)	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,702,846 (GRCm39)	N242I	probably damaging	Het
Sbno2	G	A	10: 79,898,022 (GRCm39)	L719F	probably benign	Het
Scn11a	G	T	9: 119,648,897 (GRCm39)	D55E	probably damaging	Het
Setd1b	T	A	5: 123,289,929 (GRCm39)	I632N	unknown	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Srpk2	A	T	5: 23,729,390 (GRCm39)	D416E	possibly damaging	Het
Sspo	A	T	6: 48,443,889 (GRCm39)		probably null	Het
Sycp1	A	T	3: 102,752,370 (GRCm39)	I804N	probably benign	Het
Tdp2	G	A	13: 25,015,809 (GRCm39)	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,284,795 (GRCm39)	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,258,326 (GRCm39)	P439S	probably benign	Het
Tnxb	A	T	17: 34,936,457 (GRCm39)	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,173,933 (GRCm39)	T142A	probably benign	Het
Ttn	T	C	2: 76,710,785 (GRCm39)		probably benign	Het
Tubgcp4	T	C	2: 121,004,061 (GRCm39)	L34P	probably damaging	Het
Tubgcp6	G	T	15: 88,983,748 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,078,962 (GRCm39)	V1690E	probably benign	Het
Vps4b	T	C	1: 106,724,148 (GRCm39)		probably null	Het
Wtap	A	G	17: 13,186,525 (GRCm39)	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,774,172 (GRCm39)	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,254,293 (GRCm39)	T67M	probably damaging	Het
Zfp865	T	C	7: 5,037,668 (GRCm39)		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
R3082:Pitpnc1	UTSW	11	107,103,350 (GRCm39)	missense	possibly damaging	0.95
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
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'- CACTTCCATTGCAGAAAGGAG -3'
(R):5'- TGGCTTCTCCTACAGGATGTG -3'

Sequencing Primer
(F):5'- CTTCCATTGCAGAAAGGAGGAAAGAC -3'
(R):5'- CTCCTACAGGATGTGGTTATTAATG -3'

Posted On

2016-06-15