Mutagenetix > Incidental Mutation

Incidental Mutation 'R4278:Pitpnm3'

322773

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm3

Ensembl Gene

ENSMUSG00000040543

Gene Name

PITPNM family member 3

Synonyms

A330068P14Rik, Ackr6

MMRRC Submission

068968-MU

Accession Numbers

Essential gene?

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

Stock #

R4278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71938354-72026604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71965342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 164 (V164I)

Ref Sequence

ENSEMBL: ENSMUSP00000074737 (fasta)

Gene Model

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

AlphaFold

Q3UHE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000075258
AA Change: V164I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543
AA Change: V164I

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

probably damaging
Transcript: ENSMUST00000108508
AA Change: V148I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543
AA Change: V148I

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anln	A	G	9: 22,245,296 (GRCm39)		probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bltp3b	T	G	10: 89,642,571 (GRCm39)		probably null	Het
Capza3	T	A	6: 139,987,786 (GRCm39)	Y128*	probably null	Het
Ccdc187	T	A	2: 26,172,239 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,209,667 (GRCm39)	R119G	probably damaging	Het
Espn	T	C	4: 152,218,874 (GRCm39)	D308G	probably damaging	Het
Gm9857	T	C	3: 108,847,419 (GRCm39)		probably benign	Het
Hhatl	G	A	9: 121,613,285 (GRCm39)	A470V	probably benign	Het
Igfals	A	T	17: 25,100,191 (GRCm39)	E427D	probably benign	Het
Il22ra1	C	T	4: 135,478,024 (GRCm39)	A365V	possibly damaging	Het
Kctd6	G	C	14: 8,222,806 (GRCm38)	R216P	probably damaging	Het
Lama1	A	T	17: 68,098,512 (GRCm39)	M1864L	probably null	Het
Mbd5	T	G	2: 49,162,305 (GRCm39)	I37S	probably damaging	Het
Nsf	C	A	11: 103,821,632 (GRCm39)	A5S	probably damaging	Het
Nsun5	A	G	5: 135,398,914 (GRCm39)	Y26C	probably damaging	Het
Or9q1	A	G	19: 13,805,793 (GRCm39)		probably benign	Het
Plk2	A	G	13: 110,532,637 (GRCm39)	K117R	probably benign	Het
Ppp1r13b	G	T	12: 111,796,818 (GRCm39)	N908K	probably damaging	Het
Rapgef4	T	A	2: 72,028,739 (GRCm39)	N385K	possibly damaging	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Rhbdd3	C	T	11: 5,055,329 (GRCm39)	T226I	probably benign	Het
Slc27a3	C	T	3: 90,296,495 (GRCm39)		probably benign	Het
Slc30a2	G	A	4: 134,073,360 (GRCm39)	E136K	probably null	Het
Sptlc2	A	C	12: 87,382,925 (GRCm39)	I393R	probably benign	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r80	G	T	7: 11,927,454 (GRCm39)	C188F	probably benign	Het
Vwa2	C	A	19: 56,891,915 (GRCm39)	Q283K	probably benign	Het
Zfp52	A	G	17: 21,782,132 (GRCm39)	K660R	probably benign	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
R1951:Pitpnm3	UTSW	11	71,965,450 (GRCm39)	missense	possibly damaging	0.88
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
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'- ATTCTGACTTGACACCAGACAGG -3'
(R):5'- TTTCTGGATGCACCTAGCCC -3'

Sequencing Primer
(F):5'- CAGACAGGCCTCAGCAGATG -3'
(R):5'- TGTCCTTGAGCACCCTGGATG -3'

Posted On

2015-06-20