Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Pitpnm3'

217319

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm3

Ensembl Gene

ENSMUSG00000040543

Gene Name

PITPNM family member 3

Synonyms

A330068P14Rik, Ackr6

MMRRC Submission

039965-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1951 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

71938354-72026604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71965450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 112 (H112N)

Ref Sequence

ENSEMBL: ENSMUSP00000104148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075258] [ENSMUST00000108508]

AlphaFold

Q3UHE1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075258
AA Change: H128N

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543
AA Change: H128N

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
low complexity region	25	37	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Blast:DDHD	141	361	1e-105	BLAST
DDHD	390	594	1.49e-91	SMART
LNS2	739	870	2.12e-55	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108508
AA Change: H112N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543
AA Change: H112N

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
low complexity region	25	37	N/A	INTRINSIC
low complexity region	112	124	N/A	INTRINSIC
Blast:DDHD	125	345	1e-106	BLAST
DDHD	374	578	1.49e-91	SMART
LNS2	723	854	2.12e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142471

Meta Mutation Damage Score

0.0966

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Arhgap28	G	A	17: 68,208,336 (GRCm39)	A44V	probably benign	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Mfsd6	A	G	1: 52,748,517 (GRCm39)	F116S	probably damaging	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Ppargc1b	G	T	18: 61,431,848 (GRCm39)	T1000K	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Slc22a18	C	T	7: 143,029,984 (GRCm39)	T17I	probably damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tle4	A	T	19: 14,493,721 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zranb3	A	T	1: 127,927,136 (GRCm39)	V343D	probably damaging	Het

Other mutations in Pitpnm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01818:Pitpnm3	APN	11	72,003,077 (GRCm39)	splice site	probably benign
IGL01871:Pitpnm3	APN	11	71,946,964 (GRCm39)	missense	probably damaging	0.99
IGL02058:Pitpnm3	APN	11	72,010,965 (GRCm39)	missense	probably benign	0.31
IGL02267:Pitpnm3	APN	11	71,962,274 (GRCm39)	missense	probably benign	0.02
IGL02370:Pitpnm3	APN	11	71,942,684 (GRCm39)	missense	probably benign	0.04
IGL02613:Pitpnm3	APN	11	71,948,898 (GRCm39)	missense	probably damaging	1.00
IGL02835:Pitpnm3	APN	11	71,952,292 (GRCm39)	splice site	probably benign
IGL02946:Pitpnm3	APN	11	71,983,378 (GRCm39)	missense	probably benign	0.08
IGL02989:Pitpnm3	APN	11	72,011,012 (GRCm39)	splice site	probably benign
IGL03173:Pitpnm3	APN	11	71,983,389 (GRCm39)	missense	probably benign	0.02
IGL03357:Pitpnm3	APN	11	71,961,716 (GRCm39)	nonsense	probably null
Frank	UTSW	11	71,961,222 (GRCm39)	missense	probably benign
Mickey	UTSW	11	71,961,790 (GRCm39)	missense	probably damaging	1.00
Stuart	UTSW	11	71,942,755 (GRCm39)	missense	probably null	0.99
R0102:Pitpnm3	UTSW	11	71,947,072 (GRCm39)	missense	probably damaging	1.00
R0193:Pitpnm3	UTSW	11	71,961,318 (GRCm39)	splice site	probably benign
R0964:Pitpnm3	UTSW	11	71,949,296 (GRCm39)	missense	probably damaging	1.00
R1475:Pitpnm3	UTSW	11	71,965,453 (GRCm39)	missense	probably damaging	1.00
R1566:Pitpnm3	UTSW	11	71,949,785 (GRCm39)	splice site	probably null
R3915:Pitpnm3	UTSW	11	72,003,110 (GRCm39)	missense	probably damaging	1.00
R4192:Pitpnm3	UTSW	11	71,942,785 (GRCm39)	missense	possibly damaging	0.96
R4278:Pitpnm3	UTSW	11	71,965,342 (GRCm39)	missense	probably damaging	1.00
R4928:Pitpnm3	UTSW	11	71,953,998 (GRCm39)	missense	probably damaging	1.00
R5543:Pitpnm3	UTSW	11	71,947,023 (GRCm39)	missense	probably damaging	0.99
R5626:Pitpnm3	UTSW	11	72,003,158 (GRCm39)	missense	probably benign	0.04
R5635:Pitpnm3	UTSW	11	71,957,986 (GRCm39)	missense	possibly damaging	0.95
R5958:Pitpnm3	UTSW	11	72,003,193 (GRCm39)	splice site	probably null
R6531:Pitpnm3	UTSW	11	71,962,313 (GRCm39)	missense	possibly damaging	0.94
R6634:Pitpnm3	UTSW	11	71,942,755 (GRCm39)	missense	probably null	0.99
R6764:Pitpnm3	UTSW	11	71,942,059 (GRCm39)	missense	probably damaging	1.00
R6912:Pitpnm3	UTSW	11	71,961,222 (GRCm39)	missense	probably benign
R7132:Pitpnm3	UTSW	11	71,942,102 (GRCm39)	missense	possibly damaging	0.86
R7307:Pitpnm3	UTSW	11	71,961,790 (GRCm39)	missense	probably damaging	1.00
R7561:Pitpnm3	UTSW	11	71,942,008 (GRCm39)	missense	probably benign	0.02
R7771:Pitpnm3	UTSW	11	71,952,314 (GRCm39)	nonsense	probably null
R8099:Pitpnm3	UTSW	11	71,961,144 (GRCm39)	missense	possibly damaging	0.85
R8753:Pitpnm3	UTSW	11	71,942,704 (GRCm39)	missense	probably benign	0.01
R8817:Pitpnm3	UTSW	11	71,941,894 (GRCm39)	missense	possibly damaging	0.74
R8987:Pitpnm3	UTSW	11	72,003,132 (GRCm39)	missense	probably damaging	1.00
R9054:Pitpnm3	UTSW	11	71,947,017 (GRCm39)	missense	probably damaging	0.97
R9450:Pitpnm3	UTSW	11	71,952,412 (GRCm39)	missense	possibly damaging	0.50
R9508:Pitpnm3	UTSW	11	72,003,121 (GRCm39)	missense	probably damaging	1.00
R9606:Pitpnm3	UTSW	11	71,955,069 (GRCm39)	missense	probably benign	0.02
R9740:Pitpnm3	UTSW	11	71,947,102 (GRCm39)	missense	probably benign	0.34
X0018:Pitpnm3	UTSW	11	71,962,266 (GRCm39)	missense	probably benign	0.42
X0062:Pitpnm3	UTSW	11	71,957,934 (GRCm39)	missense	probably damaging	1.00
Z1186:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1186:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1187:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1187:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1188:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1188:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1189:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1189:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1190:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1190:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1191:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1191:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign
Z1192:Pitpnm3	UTSW	11	72,010,969 (GRCm39)	missense	probably benign
Z1192:Pitpnm3	UTSW	11	71,954,955 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGACGGTGCAAACAAGC -3'
(R):5'- TAGATTCGTCTTGCCCATGCTG -3'

Sequencing Primer
(F):5'- AAAGCCTCCGAGCAGATGGC -3'
(R):5'- CCATGCTGTCCATTGAGGGTC -3'

Posted On

2014-08-01