Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Pitpnm2'

219206

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm2

Ensembl Gene

ENSMUSG00000029406

Gene Name

phosphatidylinositol transfer protein, membrane-associated 2

Synonyms

RDGBA2, NIR3, Rdgb2

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2008 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

124256753-124387823 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 124290684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000143269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086123] [ENSMUST00000159677] [ENSMUST00000161273] [ENSMUST00000161644] [ENSMUST00000161938] [ENSMUST00000162812]

AlphaFold

Q6ZPQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000086123
AA Change: M1L

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: M1L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	6.1e-132	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
low complexity region	507	515	N/A	INTRINSIC
Blast:DDHD	548	570	6e-7	BLAST
low complexity region	571	589	N/A	INTRINSIC
low complexity region	608	630	N/A	INTRINSIC
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	895	1.66e-98	SMART
LNS2	1040	1171	3.22e-55	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159677
AA Change: M1L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406
AA Change: M1L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	3.2e-130	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
low complexity region	420	436	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161273
AA Change: M1L

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: M1L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	3.2e-129	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
Blast:DDHD	422	670	2e-65	BLAST
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	945	7.5e-100	SMART
LNS2	1090	1221	3.1e-59	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161644
AA Change: M1L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000161938
AA Change: M1L

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: M1L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	251	7.5e-116	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
Blast:DDHD	422	670	2e-65	BLAST
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	949	8.37e-104	SMART
LNS2	1094	1225	3.22e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162812
AA Change: M1L

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: M1L

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	6.1e-132	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
low complexity region	507	515	N/A	INTRINSIC
Blast:DDHD	548	570	6e-7	BLAST
low complexity region	571	589	N/A	INTRINSIC
low complexity region	608	630	N/A	INTRINSIC
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	895	1.66e-98	SMART
LNS2	1040	1171	3.22e-55	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no defects pertaining to photoreceptor function or survival. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly damaging	Het

Other mutations in Pitpnm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pitpnm2	APN	5	124,259,726 (GRCm39)	unclassified	probably benign
IGL01660:Pitpnm2	APN	5	124,261,257 (GRCm39)	missense	probably damaging	1.00
IGL02328:Pitpnm2	APN	5	124,259,477 (GRCm39)	missense	probably damaging	0.99
IGL02340:Pitpnm2	APN	5	124,268,676 (GRCm39)	missense	probably damaging	1.00
IGL02399:Pitpnm2	APN	5	124,278,821 (GRCm39)	splice site	probably benign
IGL02719:Pitpnm2	APN	5	124,278,665 (GRCm39)	missense	probably damaging	1.00
IGL03053:Pitpnm2	APN	5	124,281,664 (GRCm39)	missense	probably damaging	1.00
IGL03083:Pitpnm2	APN	5	124,271,445 (GRCm39)	missense	possibly damaging	0.92
PIT4131001:Pitpnm2	UTSW	5	124,269,178 (GRCm39)	missense	probably benign	0.01
R0058:Pitpnm2	UTSW	5	124,262,093 (GRCm39)	missense	probably damaging	1.00
R0437:Pitpnm2	UTSW	5	124,269,152 (GRCm39)	splice site	probably benign
R0530:Pitpnm2	UTSW	5	124,269,264 (GRCm39)	missense	probably damaging	1.00
R0568:Pitpnm2	UTSW	5	124,278,580 (GRCm39)	splice site	probably benign
R0926:Pitpnm2	UTSW	5	124,269,272 (GRCm39)	missense	probably benign	0.10
R1625:Pitpnm2	UTSW	5	124,271,496 (GRCm39)	missense	probably benign	0.05
R2120:Pitpnm2	UTSW	5	124,265,332 (GRCm39)	missense	probably damaging	1.00
R2354:Pitpnm2	UTSW	5	124,260,982 (GRCm39)	missense	probably damaging	0.99
R2448:Pitpnm2	UTSW	5	124,262,057 (GRCm39)	missense	probably damaging	1.00
R2509:Pitpnm2	UTSW	5	124,274,389 (GRCm39)	missense	probably damaging	0.99
R2510:Pitpnm2	UTSW	5	124,274,389 (GRCm39)	missense	probably damaging	0.99
R2511:Pitpnm2	UTSW	5	124,274,389 (GRCm39)	missense	probably damaging	0.99
R2520:Pitpnm2	UTSW	5	124,267,464 (GRCm39)	missense	probably damaging	0.96
R2860:Pitpnm2	UTSW	5	124,259,500 (GRCm39)	missense	probably damaging	1.00
R2861:Pitpnm2	UTSW	5	124,259,500 (GRCm39)	missense	probably damaging	1.00
R4407:Pitpnm2	UTSW	5	124,290,678 (GRCm39)	missense	possibly damaging	0.57
R4417:Pitpnm2	UTSW	5	124,261,632 (GRCm39)	missense	probably damaging	1.00
R4426:Pitpnm2	UTSW	5	124,280,186 (GRCm39)	missense	probably benign	0.32
R4458:Pitpnm2	UTSW	5	124,259,439 (GRCm39)	missense	probably benign	0.00
R4610:Pitpnm2	UTSW	5	124,263,434 (GRCm39)	missense	probably damaging	0.99
R4786:Pitpnm2	UTSW	5	124,259,806 (GRCm39)	nonsense	probably null
R4903:Pitpnm2	UTSW	5	124,290,668 (GRCm39)	missense	probably damaging	1.00
R5151:Pitpnm2	UTSW	5	124,274,449 (GRCm39)	missense	probably damaging	1.00
R5315:Pitpnm2	UTSW	5	124,259,996 (GRCm39)	missense	probably benign	0.18
R5592:Pitpnm2	UTSW	5	124,280,212 (GRCm39)	missense	probably damaging	1.00
R5792:Pitpnm2	UTSW	5	124,268,384 (GRCm39)	nonsense	probably null
R6846:Pitpnm2	UTSW	5	124,269,234 (GRCm39)	missense	probably benign	0.00
R6983:Pitpnm2	UTSW	5	124,271,469 (GRCm39)	missense	probably damaging	1.00
R7096:Pitpnm2	UTSW	5	124,267,324 (GRCm39)	missense	possibly damaging	0.69
R7188:Pitpnm2	UTSW	5	124,259,366 (GRCm39)	missense	probably benign	0.31
R7203:Pitpnm2	UTSW	5	124,259,522 (GRCm39)	missense	probably damaging	0.96
R7237:Pitpnm2	UTSW	5	124,263,360 (GRCm39)	critical splice donor site	probably null
R7257:Pitpnm2	UTSW	5	124,263,419 (GRCm39)	missense	possibly damaging	0.88
R7622:Pitpnm2	UTSW	5	124,260,090 (GRCm39)	missense	probably benign	0.39
R7677:Pitpnm2	UTSW	5	124,261,632 (GRCm39)	missense	probably damaging	1.00
R7736:Pitpnm2	UTSW	5	124,261,093 (GRCm39)	missense	possibly damaging	0.47
R7745:Pitpnm2	UTSW	5	124,266,768 (GRCm39)	missense	probably benign	0.19
R8041:Pitpnm2	UTSW	5	124,259,519 (GRCm39)	missense	probably damaging	1.00
R9070:Pitpnm2	UTSW	5	124,259,375 (GRCm39)	missense	probably damaging	1.00
R9218:Pitpnm2	UTSW	5	124,265,344 (GRCm39)	missense	probably damaging	0.97
R9423:Pitpnm2	UTSW	5	124,271,469 (GRCm39)	missense	probably benign	0.05
R9438:Pitpnm2	UTSW	5	124,269,342 (GRCm39)	missense	probably damaging	0.99
R9439:Pitpnm2	UTSW	5	124,278,659 (GRCm39)	missense	probably damaging	1.00
R9439:Pitpnm2	UTSW	5	124,274,189 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAAAGCAGTCCATGTCCAC -3'
(R):5'- TTGGGTAGCTCTTCAAGATTGCTC -3'

Sequencing Primer
(F):5'- CAGGCGGTACCCAGTAGTGTAG -3'
(R):5'- AAGGAATTTGCTCCAGGTCG -3'

Posted On

2014-08-25