Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Pitpnm3'

539104

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm3

Ensembl Gene

ENSMUSG00000040543

Gene Name

PITPNM family member 3

Synonyms

A330068P14Rik, Ackr6

MMRRC Submission

045004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71938354-72026604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71961222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 315 (D315G)

Ref Sequence

ENSEMBL: ENSMUSP00000104148 (fasta)

Gene Model

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

AlphaFold

Q3UHE1

Predicted Effect

probably benign
Transcript: ENSMUST00000075258
AA Change: D331G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543
AA Change: D331G

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 benign
Transcript: ENSMUST00000108508
AA Change: D315G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543
AA Change: D315G

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

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	A	7: 43,150,571 (GRCm39)	T67I	possibly damaging	Het
Abca5	A	T	11: 110,197,106 (GRCm39)	M524K	probably benign	Het
Aco2	G	A	15: 81,779,597 (GRCm39)	V134I	probably benign	Het
Acsf2	C	T	11: 94,461,206 (GRCm39)	M323I	probably benign	Het
Acvr1	T	C	2: 58,337,585 (GRCm39)	D499G	probably benign	Het
Armc5	G	A	7: 127,839,597 (GRCm39)	C305Y	probably damaging	Het
Astl	T	C	2: 127,198,306 (GRCm39)	I286T	probably benign	Het
Atp8a2	G	A	14: 60,249,859 (GRCm39)	S544L	probably benign	Het
Bbs7	G	T	3: 36,659,853 (GRCm39)	A194E	probably benign	Het
Brca2	A	G	5: 150,465,207 (GRCm39)	D1657G	probably damaging	Het
Cfap46	G	A	7: 139,219,616 (GRCm39)	S1283L	probably benign	Het
Creld2	T	C	15: 88,704,200 (GRCm39)	S64P	probably damaging	Het
Crtc1	T	C	8: 70,850,961 (GRCm39)	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,675,320 (GRCm39)	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,183,108 (GRCm39)	M487V	probably benign	Het
Dnah12	T	C	14: 26,600,036 (GRCm39)	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,577,748 (GRCm39)	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,698,221 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,003 (GRCm39)	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,594,011 (GRCm39)	I720F	probably benign	Het
Fam83b	T	A	9: 76,398,214 (GRCm39)	E963V	probably damaging	Het
Fat1	T	A	8: 45,504,060 (GRCm39)	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,617,148 (GRCm39)	K118*	probably null	Het
Fcgbp	A	T	7: 27,789,129 (GRCm39)	Y565F	probably benign	Het
Garre1	A	G	7: 33,945,093 (GRCm39)	S384P	probably benign	Het
Gm128	A	T	3: 95,147,740 (GRCm39)	S185T	probably benign	Het
Gm6309	C	T	5: 146,105,640 (GRCm39)	E175K	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	T	C	14: 33,916,597 (GRCm39)	Y391C	probably damaging	Het
Hexa	T	C	9: 59,447,221 (GRCm39)	L72P	probably damaging	Het
Il31ra	T	A	13: 112,685,998 (GRCm39)	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,372,529 (GRCm39)	A939T	probably benign	Het
Kif16b	A	G	2: 142,542,019 (GRCm39)		probably benign	Het
Kndc1	A	T	7: 139,490,194 (GRCm39)	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,348,369 (GRCm39)	R2775S	unknown	Het
Luc7l3	C	T	11: 94,200,462 (GRCm39)	R52H	probably damaging	Het
Mapk15	A	T	15: 75,865,747 (GRCm39)	R13S	probably damaging	Het
Mdga2	G	T	12: 66,552,889 (GRCm39)	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,920,611 (GRCm39)	Q69*	probably null	Het
Mlph	A	T	1: 90,873,342 (GRCm39)	D551V	probably damaging	Het
Mup5	A	T	4: 61,752,806 (GRCm39)	F72L	probably benign	Het
Narf	T	C	11: 121,129,287 (GRCm39)	S24P	probably benign	Het
Ncapg2	A	G	12: 116,390,202 (GRCm39)	I384V	probably benign	Het
Neo1	T	C	9: 58,824,335 (GRCm39)	T698A	probably benign	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Nrros	T	C	16: 31,981,057 (GRCm39)	R24G	probably null	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or6b1	T	C	6: 42,815,736 (GRCm39)	V307A	probably benign	Het
Pde9a	T	C	17: 31,685,386 (GRCm39)	S347P	possibly damaging	Het
Plaat5	A	G	19: 7,616,830 (GRCm39)		probably benign	Het
Plekha6	C	T	1: 133,200,273 (GRCm39)	A284V	probably benign	Het
Plekhg2	A	G	7: 28,059,684 (GRCm39)	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,711 (GRCm39)	A144E	probably damaging	Het
Ppp1r10	T	C	17: 36,240,453 (GRCm39)	V581A	possibly damaging	Het
Prr12	A	G	7: 44,698,269 (GRCm39)		probably benign	Het
Rfx6	T	C	10: 51,599,949 (GRCm39)	V565A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Saxo2	A	G	7: 82,284,402 (GRCm39)	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,793,946 (GRCm39)	D86G	probably benign	Het
Shroom3	A	T	5: 93,090,876 (GRCm39)	M1128L	probably benign	Het
Smok2a	C	A	17: 13,444,543 (GRCm39)	T40K	probably benign	Het
Tatdn1	C	T	15: 58,793,118 (GRCm39)		probably null	Het
Tbc1d2	C	A	4: 46,649,712 (GRCm39)	G108V	probably damaging	Het
Tbck	T	C	3: 132,392,703 (GRCm39)	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,527,601 (GRCm39)	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,440,719 (GRCm39)	D245G	probably benign	Het
Trim68	A	T	7: 102,333,675 (GRCm39)	D2E	probably damaging	Het
Trps1	T	A	15: 50,685,694 (GRCm39)	Q157L	possibly damaging	Het
Ttc22	A	G	4: 106,495,800 (GRCm39)	T385A	probably benign	Het
Ubap2l	A	T	3: 89,946,155 (GRCm39)	F150I	possibly damaging	Het
Ube2u	C	T	4: 100,389,352 (GRCm39)	R105W	probably damaging	Het
Ubr4	G	A	4: 139,185,545 (GRCm39)		probably null	Het
Unc5b	A	G	10: 60,666,871 (GRCm39)	L25P	probably benign	Het
Usp38	A	G	8: 81,719,958 (GRCm39)	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,416,374 (GRCm39)	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,457,599 (GRCm39)	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 19,047,464 (GRCm39)	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,099,196 (GRCm39)		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
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
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'- GCTATCTATGAGTCCCTGGAGAAG -3'
(R):5'- GCGCATGTTTGGCAAAAGGG -3'

Sequencing Primer
(F):5'- TGACTGGCTGGTCACAAGC -3'
(R):5'- GACCCCTGTGATTGCTAT -3'

Posted On

2018-11-06