Mutagenetix > Incidental Mutation

Incidental Mutation 'R2509:Pitpnm2'

251723

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm2

Ensembl Gene

ENSMUSG00000029406

Gene Name

phosphatidylinositol transfer protein, membrane-associated 2

Synonyms

RDGBA2, NIR3, Rdgb2

MMRRC Submission

040415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124256753-124387823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124274389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 240 (E240G)

Ref Sequence

ENSEMBL: ENSMUSP00000124292 (fasta)

Gene Model

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

AlphaFold

Q6ZPQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000086123
AA Change: E240G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: E240G

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 benign
Transcript: ENSMUST00000159677
AA Change: E240G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406
AA Change: E240G

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

probably damaging
Transcript: ENSMUST00000161273
AA Change: E240G

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

SMART Domains

Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: E240G

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

noncoding transcript
Transcript: ENSMUST00000161530

Predicted Effect

probably benign
Transcript: ENSMUST00000161938
AA Change: E240G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: E240G

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: E240G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: E240G

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

Meta Mutation Damage Score

0.2834

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (105/109)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,200,102 (GRCm39)	I497V	probably benign	Het
4930571K23Rik	C	A	7: 124,968,311 (GRCm39)		noncoding transcript	Het
Abca17	G	T	17: 24,508,587 (GRCm39)		probably benign	Het
Ablim1	C	T	19: 57,140,791 (GRCm39)	R196Q	probably damaging	Het
Acot11	T	C	4: 106,612,516 (GRCm39)	I379V	possibly damaging	Het
Acot4	G	A	12: 84,088,647 (GRCm39)	G165D	probably damaging	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Ahctf1	T	C	1: 179,598,258 (GRCm39)	S945G	possibly damaging	Het
Akr1c13	C	T	13: 4,248,583 (GRCm39)	R263C	probably damaging	Het
Arfgap1	T	A	2: 180,615,846 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,101,633 (GRCm39)	K103R	probably damaging	Het
Cabp1	A	T	5: 115,310,843 (GRCm39)	N211K	probably damaging	Het
Cacna1c	T	A	6: 118,711,943 (GRCm39)	D261V	probably damaging	Het
Car11	G	A	7: 45,350,783 (GRCm39)	G93E	probably damaging	Het
Card10	A	G	15: 78,664,473 (GRCm39)	I821T	probably benign	Het
Cast	T	C	13: 74,885,735 (GRCm39)	I277V	probably benign	Het
Cenpj	T	C	14: 56,769,694 (GRCm39)	K1165R	probably null	Het
Cenpk	A	G	13: 104,370,675 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,394,169 (GRCm39)	K353E	probably benign	Het
Cmya5	T	C	13: 93,230,066 (GRCm39)	Q1674R	probably benign	Het
Cnnm1	T	A	19: 43,430,325 (GRCm39)	V481D	probably damaging	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2c50	G	A	19: 40,079,013 (GRCm39)	V119I	probably benign	Het
Dnah7b	A	G	1: 46,234,447 (GRCm39)	T1460A	probably damaging	Het
Dnah8	G	A	17: 30,994,019 (GRCm39)	D3379N	probably benign	Het
Dnajc4	C	T	19: 6,968,111 (GRCm39)	R55H	probably damaging	Het
Ebf4	C	T	2: 130,148,482 (GRCm39)	R98*	probably null	Het
Epha4	G	A	1: 77,488,339 (GRCm39)	A47V	possibly damaging	Het
Ercc8	T	C	13: 108,320,251 (GRCm39)		probably benign	Het
Exo1	T	C	1: 175,733,399 (GRCm39)	F75S	probably damaging	Het
Fam168a	G	T	7: 100,483,391 (GRCm39)		probably null	Het
Fat3	G	A	9: 15,836,310 (GRCm39)	R4065W	possibly damaging	Het
Gm5431	T	A	11: 48,779,536 (GRCm39)	N740I	probably benign	Het
Gm5900	T	A	7: 104,599,571 (GRCm39)		noncoding transcript	Het
Gpi1	A	G	7: 33,905,348 (GRCm39)	S359P	probably damaging	Het
Gpr156	A	G	16: 37,768,149 (GRCm39)	R22G	probably benign	Het
Greb1	A	G	12: 16,774,923 (GRCm39)	V158A	probably damaging	Het
Grin2c	T	A	11: 115,141,894 (GRCm39)	K842*	probably null	Het
Gsta5	T	A	9: 78,202,089 (GRCm39)	M1K	probably null	Het
Hnf4a	T	A	2: 163,408,161 (GRCm39)	L329Q	probably damaging	Het
Hsp90ab1	A	G	17: 45,880,267 (GRCm39)	L92P	probably damaging	Het
Ido1	T	A	8: 25,074,501 (GRCm39)	R290*	probably null	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Ift172	T	C	5: 31,420,312 (GRCm39)	N1108S	probably benign	Het
Igkv3-9	T	A	6: 70,565,728 (GRCm39)	M109K	probably benign	Het
Igsf10	T	C	3: 59,239,287 (GRCm39)	D298G	probably damaging	Het
Iqck	T	G	7: 118,475,505 (GRCm39)	M98R	probably benign	Het
Klk1b1	T	C	7: 43,618,803 (GRCm39)	V60A	probably damaging	Het
Krtap1-3	C	T	11: 99,481,653 (GRCm39)	E165K	unknown	Het
Lair1	A	G	7: 4,013,782 (GRCm39)	L155P	probably damaging	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Mast4	G	T	13: 102,990,350 (GRCm39)	S57Y	probably damaging	Het
Mical3	T	C	6: 121,011,118 (GRCm39)	H360R	probably damaging	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Myh1	A	G	11: 67,096,423 (GRCm39)	I301V	probably benign	Het
Nck2	T	A	1: 43,593,393 (GRCm39)	V200E	probably damaging	Het
Odad4	T	G	11: 100,444,361 (GRCm39)	L222R	probably damaging	Het
Or2y1b	T	G	11: 49,209,048 (GRCm39)	L225R	probably damaging	Het
Or4b12	T	C	2: 90,096,030 (GRCm39)	Y248C	possibly damaging	Het
Or4c109	T	G	2: 88,817,775 (GRCm39)	Y257S	probably damaging	Het
Or4f60	T	A	2: 111,902,837 (GRCm39)	L30F	probably benign	Het
Or4k38	C	T	2: 111,166,076 (GRCm39)	V116I	probably damaging	Het
Or52n2c	G	A	7: 104,574,894 (GRCm39)	H26Y	probably benign	Het
Or5b101	T	A	19: 13,005,058 (GRCm39)	I212F	probably damaging	Het
Or8b12i	A	G	9: 20,082,525 (GRCm39)	L114P	probably damaging	Het
Otoa	C	T	7: 120,759,695 (GRCm39)	T1099I	probably benign	Het
Pask	T	A	1: 93,258,485 (GRCm39)	I288F	possibly damaging	Het
Pcnx4	T	C	12: 72,613,746 (GRCm39)	W564R	probably damaging	Het
Pip4p1	A	T	14: 51,167,115 (GRCm39)	Y129*	probably null	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Prkca	T	C	11: 107,870,032 (GRCm39)	Y37C	probably damaging	Het
Rad18	T	G	6: 112,652,883 (GRCm39)	H238P	possibly damaging	Het
Rap1b	T	A	10: 117,654,444 (GRCm39)	Q1L	probably damaging	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rpl3l	A	T	17: 24,951,360 (GRCm39)	D87V	possibly damaging	Het
Scrn2	T	C	11: 96,923,992 (GRCm39)	V292A	possibly damaging	Het
Sdad1	A	G	5: 92,453,684 (GRCm39)	Y35H	probably benign	Het
Sez6l2	T	C	7: 126,552,944 (GRCm39)	S177P	probably benign	Het
Sh3bp1	C	T	15: 78,795,706 (GRCm39)	P612S	probably damaging	Het
Shank1	T	C	7: 44,001,148 (GRCm39)	S956P	unknown	Het
Shank1	G	A	7: 44,001,547 (GRCm39)	A1089T	unknown	Het
Shprh	G	A	10: 11,042,468 (GRCm39)	C817Y	probably damaging	Het
Spata22	C	T	11: 73,236,593 (GRCm39)	P300S	probably damaging	Het
Sstr2	A	T	11: 113,515,749 (GRCm39)	I223F	probably damaging	Het
Stom	C	T	2: 35,210,354 (GRCm39)	A217T	probably damaging	Het
Stpg1	T	C	4: 135,263,960 (GRCm39)	V341A	probably benign	Het
Tagap	A	G	17: 8,147,586 (GRCm39)	T99A	probably benign	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Thbs2	A	G	17: 14,906,105 (GRCm39)	V265A	probably benign	Het
Thyn1	A	G	9: 26,911,316 (GRCm39)	R3G	possibly damaging	Het
Tia1	T	A	6: 86,401,312 (GRCm39)		probably null	Het
Tktl2	A	G	8: 66,965,504 (GRCm39)	E354G	probably benign	Het
Tmc8	A	G	11: 117,683,511 (GRCm39)	T689A	possibly damaging	Het
Tmem11	A	T	11: 60,755,807 (GRCm39)		probably null	Het
Tnik	T	C	3: 28,722,064 (GRCm39)	V1310A	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Trim8	C	T	19: 46,503,734 (GRCm39)	P429S	probably benign	Het
Ttn	C	A	2: 76,687,756 (GRCm39)		probably benign	Het
Ulk2	T	C	11: 61,678,340 (GRCm39)	Y793C	probably benign	Het
Vill	G	A	9: 118,899,370 (GRCm39)	V337M	possibly damaging	Het
Vps53	C	A	11: 75,957,661 (GRCm39)	V364F	possibly damaging	Het
Zan	A	T	5: 137,454,848 (GRCm39)	I1396N	unknown	Het
Zfa-ps	A	C	10: 52,420,339 (GRCm39)		noncoding transcript	Het
Zfp426	T	C	9: 20,381,977 (GRCm39)	T337A	possibly damaging	Het
Zfp536	T	C	7: 37,267,403 (GRCm39)	E671G	possibly damaging	Het
Zfp985	A	G	4: 147,667,443 (GRCm39)	T104A	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
R2008:Pitpnm2	UTSW	5	124,290,684 (GRCm39)	start codon destroyed	probably damaging	0.99
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
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'- AGGTGGACCACTGCTTCTTC -3'
(R):5'- GGACCCAGTTCTCTAGGTTGAC -3'

Sequencing Primer
(F):5'- GACCACTGCTTCTTCAGGCC -3'
(R):5'- CCCAGTTCTCTAGGTTGACAATAAG -3'

Posted On

2014-12-04