Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Pitpnm2'

39063

Institutional Source

Beutler Lab

Gene Symbol

Pitpnm2

Ensembl Gene

ENSMUSG00000029406

Gene Name

phosphatidylinositol transfer protein, membrane-associated 2

Synonyms

NIR3, RDGBA2, Rdgb2

MMRRC Submission

038638-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0437 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

124118690-124249760 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 124131089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124740 (fasta)

Gene Model

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

AlphaFold

Q6ZPQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000086123

SMART Domains

Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406

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

noncoding transcript
Transcript: ENSMUST00000159010

Predicted Effect

probably benign
Transcript: ENSMUST00000159677

SMART Domains

Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406

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 benign
Transcript: ENSMUST00000161273

SMART Domains

Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406

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

SMART Domains

Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406

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

SMART Domains

Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406

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: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	G	2: 91,421,953	L21P	probably damaging	Het
4833420G17Rik	G	A	13: 119,470,095	R291K	probably benign	Het
4932438A13Rik	A	T	3: 36,989,804	H2820L	possibly damaging	Het
Abca2	T	C	2: 25,442,845	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,257,295	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,312,919		probably null	Het
Abcc10	G	T	17: 46,312,920		probably benign	Het
Alkbh3	A	C	2: 93,981,569	L240V	probably damaging	Het
Apol10b	T	C	15: 77,585,408	S190G	probably benign	Het
Atp1a3	C	A	7: 24,998,967	C135F	probably benign	Het
Atp4a	C	G	7: 30,720,101	R659G	probably benign	Het
BC030499	T	C	11: 78,291,536	L57P	probably benign	Het
Bicra	A	G	7: 15,988,762	S277P	possibly damaging	Het
Bmp8a	T	C	4: 123,316,897	E275G	probably benign	Het
Ccdc102a	T	C	8: 94,913,426	E80G	probably damaging	Het
Cdh23	T	C	10: 60,410,797	D954G	probably damaging	Het
Chrm4	A	G	2: 91,928,443	T399A	possibly damaging	Het
Clcn3	A	G	8: 60,934,537	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,499,514		probably null	Het
Crx	G	T	7: 15,871,146	S57*	probably null	Het
Cyp4f16	A	G	17: 32,537,098	I34V	possibly damaging	Het
Daxx	T	C	17: 33,913,624	V576A	probably benign	Het
Ddx17	C	T	15: 79,537,471	R351H	probably damaging	Het
Dhx38	T	C	8: 109,558,629		probably benign	Het
Dnd1	T	C	18: 36,764,499		probably benign	Het
Dync1i2	A	T	2: 71,227,825		probably null	Het
E2f6	T	C	12: 16,816,445	S52P	probably benign	Het
Epb41l4a	A	G	18: 33,880,273	F116S	probably damaging	Het
Ext1	T	C	15: 53,106,106	N362S	probably damaging	Het
Fam227a	C	A	15: 79,643,988	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,732,759	L111F	probably damaging	Het
Fat2	T	C	11: 55,282,799	T2363A	probably benign	Het
Fat3	A	T	9: 15,996,932	N2591K	probably damaging	Het
Frem2	A	G	3: 53,653,015	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,423,463	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,846,938		noncoding transcript	Het
Galnt3	A	G	2: 66,107,229	S46P	possibly damaging	Het
Gmeb2	A	G	2: 181,253,973	V468A	possibly damaging	Het
Herc2	C	T	7: 56,219,815	R4271*	probably null	Het
Il5	C	A	11: 53,723,906		probably benign	Het
Ints9	G	A	14: 64,986,369		probably benign	Het
Itga10	T	C	3: 96,649,137	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,781,889	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,824,683	V281M	probably benign	Het
Lcp2	T	C	11: 34,087,229	L391P	probably benign	Het
Lrrc66	T	C	5: 73,607,687	Y671C	probably benign	Het
Mettl23	T	C	11: 116,849,294	V197A	possibly damaging	Het
Mmp15	C	A	8: 95,370,772	D456E	probably benign	Het
Mospd4	T	C	18: 46,465,781		noncoding transcript	Het
Mov10l1	C	A	15: 89,005,312	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,315,568	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,256,569		probably null	Het
Mybbp1a	T	C	11: 72,448,848	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,513,512		probably benign	Het
Naip6	G	A	13: 100,296,924	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,400,337	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,653,695	G66W	probably damaging	Het
Obscn	T	C	11: 58,995,088		probably benign	Het
Olfr1206	T	A	2: 88,864,885	N93K	probably benign	Het
Olfr1219	T	A	2: 89,074,612	I160F	probably benign	Het
Olfr427	G	A	1: 174,100,399	G314R	probably benign	Het
Olfr820	T	C	10: 130,018,096	V245A	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Otud4	T	A	8: 79,669,997	H628Q	probably benign	Het
Padi6	T	C	4: 140,728,929	T585A	probably benign	Het
Pex16	G	T	2: 92,375,592	R10L	probably damaging	Het
Pom121l2	A	G	13: 21,983,205	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,812,559	M470K	probably benign	Het
Prkag2	T	A	5: 25,028,505	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,199,464	M38V	probably benign	Het
Prpf18	T	A	2: 4,643,761	I85F	possibly damaging	Het
Psg27	A	G	7: 18,560,711		probably benign	Het
Relt	A	G	7: 100,848,784		probably benign	Het
Serpina3b	A	T	12: 104,130,670	N70I	probably damaging	Het
Slc19a3	T	C	1: 83,022,565	S244G	probably benign	Het
Slc39a5	T	C	10: 128,399,847	T81A	possibly damaging	Het
Slc7a2	G	A	8: 40,904,526	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,599,887		probably benign	Het
Slx1b	A	G	7: 126,692,581	F104L	probably benign	Het
Smg6	G	A	11: 74,929,701	S266N	probably damaging	Het
Spata9	T	C	13: 75,998,495	V162A	possibly damaging	Het
Szrd1	T	C	4: 141,118,744	I47V	probably benign	Het
Tha1	G	T	11: 117,868,575	L363M	probably benign	Het
Tmc6	G	A	11: 117,778,261	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,789,785	G684R	probably damaging	Het
Trim55	G	A	3: 19,670,978	G220S	probably benign	Het
Ttn	A	G	2: 76,770,530	L18836P	probably damaging	Het
Ubn1	G	T	16: 5,072,184		probably benign	Het
Ush2a	T	G	1: 188,911,031	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,102,061	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,806,356	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,446,543	C735S	probably damaging	Het
Vwf	A	T	6: 125,566,318	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910	N16S	probably damaging	Het
Zfp444	C	T	7: 6,189,409	T142I	probably benign	Het
Zfp804a	A	G	2: 82,053,791	M1V	probably null	Het
Zfp936	T	G	7: 43,189,310	I67S	probably benign	Het
Zfp948	A	T	17: 21,586,998	N151Y	unknown	Het

Other mutations in Pitpnm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pitpnm2	APN	5	124121663	unclassified	probably benign
IGL01660:Pitpnm2	APN	5	124123194	missense	probably damaging	1.00
IGL02328:Pitpnm2	APN	5	124121414	missense	probably damaging	0.99
IGL02340:Pitpnm2	APN	5	124130613	missense	probably damaging	1.00
IGL02399:Pitpnm2	APN	5	124140758	splice site	probably benign
IGL02719:Pitpnm2	APN	5	124140602	missense	probably damaging	1.00
IGL03053:Pitpnm2	APN	5	124143601	missense	probably damaging	1.00
IGL03083:Pitpnm2	APN	5	124133382	missense	possibly damaging	0.92
PIT4131001:Pitpnm2	UTSW	5	124131115	missense	probably benign	0.01
R0058:Pitpnm2	UTSW	5	124124030	missense	probably damaging	1.00
R0530:Pitpnm2	UTSW	5	124131201	missense	probably damaging	1.00
R0568:Pitpnm2	UTSW	5	124140517	splice site	probably benign
R0926:Pitpnm2	UTSW	5	124131209	missense	probably benign	0.10
R1625:Pitpnm2	UTSW	5	124133433	missense	probably benign	0.05
R2008:Pitpnm2	UTSW	5	124152621	start codon destroyed	probably damaging	0.99
R2120:Pitpnm2	UTSW	5	124127269	missense	probably damaging	1.00
R2354:Pitpnm2	UTSW	5	124122919	missense	probably damaging	0.99
R2448:Pitpnm2	UTSW	5	124123994	missense	probably damaging	1.00
R2509:Pitpnm2	UTSW	5	124136326	missense	probably damaging	0.99
R2510:Pitpnm2	UTSW	5	124136326	missense	probably damaging	0.99
R2511:Pitpnm2	UTSW	5	124136326	missense	probably damaging	0.99
R2520:Pitpnm2	UTSW	5	124129401	missense	probably damaging	0.96
R2860:Pitpnm2	UTSW	5	124121437	missense	probably damaging	1.00
R2861:Pitpnm2	UTSW	5	124121437	missense	probably damaging	1.00
R4407:Pitpnm2	UTSW	5	124152615	missense	possibly damaging	0.57
R4417:Pitpnm2	UTSW	5	124123569	missense	probably damaging	1.00
R4426:Pitpnm2	UTSW	5	124142123	missense	probably benign	0.32
R4458:Pitpnm2	UTSW	5	124121376	missense	probably benign	0.00
R4610:Pitpnm2	UTSW	5	124125371	missense	probably damaging	0.99
R4786:Pitpnm2	UTSW	5	124121743	nonsense	probably null
R4903:Pitpnm2	UTSW	5	124152605	missense	probably damaging	1.00
R5151:Pitpnm2	UTSW	5	124136386	missense	probably damaging	1.00
R5315:Pitpnm2	UTSW	5	124121933	missense	probably benign	0.18
R5592:Pitpnm2	UTSW	5	124142149	missense	probably damaging	1.00
R5792:Pitpnm2	UTSW	5	124130321	nonsense	probably null
R6846:Pitpnm2	UTSW	5	124131171	missense	probably benign	0.00
R6983:Pitpnm2	UTSW	5	124133406	missense	probably damaging	1.00
R7096:Pitpnm2	UTSW	5	124129261	missense	possibly damaging	0.69
R7188:Pitpnm2	UTSW	5	124121303	missense	probably benign	0.31
R7203:Pitpnm2	UTSW	5	124121459	missense	probably damaging	0.96
R7237:Pitpnm2	UTSW	5	124125297	critical splice donor site	probably null
R7257:Pitpnm2	UTSW	5	124125356	missense	possibly damaging	0.88
R7622:Pitpnm2	UTSW	5	124122027	missense	probably benign	0.39
R7677:Pitpnm2	UTSW	5	124123569	missense	probably damaging	1.00
R7736:Pitpnm2	UTSW	5	124123030	missense	possibly damaging	0.47
R7745:Pitpnm2	UTSW	5	124128705	missense	probably benign	0.19
R8041:Pitpnm2	UTSW	5	124121456	missense	probably damaging	1.00
R9070:Pitpnm2	UTSW	5	124121312	missense	probably damaging	1.00
R9218:Pitpnm2	UTSW	5	124127281	missense	probably damaging	0.97
R9423:Pitpnm2	UTSW	5	124133406	missense	probably benign	0.05
R9438:Pitpnm2	UTSW	5	124131279	missense	probably damaging	0.99
R9439:Pitpnm2	UTSW	5	124136126	missense	probably damaging	1.00
R9439:Pitpnm2	UTSW	5	124140596	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAGACTCATGTCCCAAGGCAGG -3'
(R):5'- TGGGCTACATCACTCCATCTCCAG -3'

Sequencing Primer
(F):5'- AAGGCAGGCCAGCATTTC -3'
(R):5'- CTATCACCAACGTGTTCGAC -3'

Posted On

2013-05-23