Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Pitpnm3'

23235

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm3

Ensembl Gene

ENSMUSG00000040543

Gene Name

PITPNM family member 3

Synonyms

A330068P14Rik, Ackr6

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

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

Stock #

R0193 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71938354-72026604 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 71961318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104148 (fasta)

Gene Model

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

AlphaFold

Q3UHE1

Predicted Effect

probably benign
Transcript: ENSMUST00000075258

SMART Domains

Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543

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

SMART Domains

Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543

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: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,444,005 (GRCm39)	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,561,292 (GRCm39)		probably benign	Het
Atp2a3	G	T	11: 72,863,046 (GRCm39)	V99L	possibly damaging	Het
Atp6v0a1	T	A	11: 100,939,308 (GRCm39)	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,694,707 (GRCm39)	R525Q	probably benign	Het
Aurkb	A	G	11: 68,939,370 (GRCm39)	D151G	probably damaging	Het
Bank1	A	T	3: 135,772,279 (GRCm39)		probably benign	Het
Bcl9l	T	C	9: 44,418,703 (GRCm39)	L847P	probably damaging	Het
Bscl2	T	A	19: 8,824,793 (GRCm39)	M292K	probably benign	Het
Cacna1c	C	T	6: 118,579,363 (GRCm39)		probably benign	Het
Cadps2	T	C	6: 23,599,439 (GRCm39)	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,893,460 (GRCm39)	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803 (GRCm39)	E145K	probably benign	Het
Ccno	C	T	13: 113,125,418 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,784,202 (GRCm39)	D70G	probably benign	Het
Cenpc1	T	C	5: 86,180,262 (GRCm39)	D670G	probably benign	Het
Cenpl	A	G	1: 160,913,558 (GRCm39)	I323V	probably damaging	Het
Cfap44	A	G	16: 44,269,573 (GRCm39)		probably null	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,139,627 (GRCm39)	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Coro7	G	A	16: 4,445,368 (GRCm39)		probably benign	Het
Dchs1	C	T	7: 105,414,190 (GRCm39)	R875H	probably benign	Het
Eif3j1	A	C	2: 121,882,508 (GRCm39)	M239L	probably benign	Het
Eif4g3	G	T	4: 137,873,687 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Erbb4	T	C	1: 68,083,119 (GRCm39)		probably benign	Het
Erlin2	T	G	8: 27,521,792 (GRCm39)	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,162,029 (GRCm39)	Q393K	probably benign	Het
Fcgr4	A	T	1: 170,853,329 (GRCm39)	N178I	possibly damaging	Het
Grid2	A	G	6: 64,040,937 (GRCm39)	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,982,224 (GRCm39)	V126I	probably benign	Het
Htr1f	T	A	16: 64,747,112 (GRCm39)	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,388,646 (GRCm39)		probably null	Het
Impg2	A	T	16: 56,085,412 (GRCm39)	K931*	probably null	Het
Ints1	T	C	5: 139,737,485 (GRCm39)	E2176G	probably damaging	Het
Iqsec2	T	C	X: 151,006,399 (GRCm39)	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,387,683 (GRCm39)	D685E	probably damaging	Het
Itgbl1	G	A	14: 124,083,958 (GRCm39)	V279I	probably benign	Het
Kdm4b	C	T	17: 56,700,952 (GRCm39)	A541V	probably benign	Het
Kif14	A	T	1: 136,396,176 (GRCm39)	T161S	probably benign	Het
Krt86	T	C	15: 101,377,244 (GRCm39)		probably benign	Het
Kyat1	C	T	2: 30,077,198 (GRCm39)		probably null	Het
Limch1	T	C	5: 67,184,882 (GRCm39)	W791R	probably damaging	Het
Map3k11	T	A	19: 5,745,874 (GRCm39)	M396K	probably damaging	Het
Mat2a	A	G	6: 72,413,178 (GRCm39)		probably null	Het
Mbnl2	A	G	14: 120,616,649 (GRCm39)	I88V	possibly damaging	Het
Mib2	T	C	4: 155,740,130 (GRCm39)	T708A	probably benign	Het
Mix23	T	C	16: 35,903,184 (GRCm39)	S59P	probably damaging	Het
Mkks	T	C	2: 136,719,526 (GRCm39)		probably null	Het
Mtss1	T	C	15: 58,815,866 (GRCm39)	M565V	probably damaging	Het
Myoc	A	G	1: 162,476,604 (GRCm39)	N436S	probably damaging	Het
Myod1	T	A	7: 46,026,536 (GRCm39)	V147E	probably damaging	Het
Ngef	A	G	1: 87,437,056 (GRCm39)	L144P	probably benign	Het
Ngrn	C	T	7: 79,911,678 (GRCm39)	R92W	probably damaging	Het
Nup153	G	A	13: 46,863,130 (GRCm39)	T349I	probably benign	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or52ad1	G	T	7: 102,995,411 (GRCm39)	S241R	possibly damaging	Het
Pigl	A	G	11: 62,394,574 (GRCm39)	I135M	probably damaging	Het
Pkhd1	A	T	1: 20,429,141 (GRCm39)	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,467,923 (GRCm39)	T119M	probably damaging	Het
Prr29	A	G	11: 106,267,722 (GRCm39)	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 26,209,973 (GRCm39)	I1048V	probably damaging	Het
Rab12	G	A	17: 66,807,357 (GRCm39)	T124I	probably damaging	Het
Rab44	A	G	17: 29,359,281 (GRCm39)	S490G	probably benign	Het
Rasa3	A	G	8: 13,620,233 (GRCm39)		probably null	Het
Rhbdl3	C	T	11: 80,244,400 (GRCm39)	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,865,420 (GRCm39)	S643T	probably benign	Het
Rin1	T	G	19: 5,102,680 (GRCm39)	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,396,198 (GRCm39)	G28S	probably damaging	Het
Rtl9	T	A	X: 141,883,274 (GRCm39)	S229T	probably damaging	Het
Rufy1	G	T	11: 50,280,679 (GRCm39)	T701N	probably benign	Het
Scn4a	A	T	11: 106,211,364 (GRCm39)	L1551*	probably null	Het
Sec24b	T	C	3: 129,782,633 (GRCm39)	N1119S	probably null	Het
Serbp1	T	A	6: 67,249,868 (GRCm39)	*75R	probably null	Het
Setx	C	T	2: 29,069,685 (GRCm39)	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,250,140 (GRCm39)	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,243,510 (GRCm39)	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,012,669 (GRCm39)	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,312 (GRCm39)	D523V	possibly damaging	Het
Traf7	G	T	17: 24,729,525 (GRCm39)	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,549,428 (GRCm39)	V6F	probably damaging	Het
Tsacc	A	T	3: 88,194,395 (GRCm39)		probably benign	Het
Vmn2r5	A	G	3: 64,398,951 (GRCm39)	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,460 (GRCm39)	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,217,129 (GRCm39)	V487A	probably damaging	Het
Zbtb47	T	C	9: 121,596,732 (GRCm39)	V696A	probably damaging	Het
Zfp287	A	T	11: 62,605,855 (GRCm39)	S351T	probably benign	Het
Zfp654	T	C	16: 64,606,051 (GRCm39)	H176R	possibly 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
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
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'- CCTTGAGAGGAAGGCATGATGCTG -3'
(R):5'- AAAGGAAGGTCGTTCCAGGCACTC -3'

Sequencing Primer
(F):5'- CCACTGGAGACATCGACATT -3'
(R):5'- CTAGTGTGTATCTCCCTAGAGAGC -3'

Posted On

2013-04-16