Incidental Mutation 'R2520:Pitpnm2'
| ID |
254336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| MMRRC Submission |
040424-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2520 (G1)
|
| Quality Score |
170 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124267464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 592
(D592G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086123]
[ENSMUST00000159677]
[ENSMUST00000161273]
[ENSMUST00000161938]
[ENSMUST00000162812]
|
| AlphaFold |
Q6ZPQ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086123
AA Change: D592G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: D592G
| 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 |
noncoding transcript
Transcript: ENSMUST00000159628
|
| 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 damaging
Transcript: ENSMUST00000161273
AA Change: D592G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: D592G
| 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 |
possibly damaging
Transcript: ENSMUST00000161938
AA Change: D592G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: D592G
| 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 |
possibly damaging
Transcript: ENSMUST00000162812
AA Change: D592G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: D592G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
T |
5: 3,625,773 (GRCm39) |
N70I |
probably damaging |
Het |
| 4930503B20Rik |
G |
A |
3: 146,356,261 (GRCm39) |
R216W |
probably damaging |
Het |
| Abcb9 |
C |
T |
5: 124,218,091 (GRCm39) |
|
probably null |
Het |
| Arhgdia |
A |
T |
11: 120,470,852 (GRCm39) |
V72E |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,077,207 (GRCm39) |
K525* |
probably null |
Het |
| Bckdha |
A |
C |
7: 25,341,124 (GRCm39) |
I79S |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,494,893 (GRCm39) |
|
probably null |
Het |
| Cers5 |
G |
A |
15: 99,634,262 (GRCm39) |
T362I |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,177,942 (GRCm39) |
F86I |
probably damaging |
Het |
| Crispld1 |
G |
A |
1: 17,821,000 (GRCm39) |
D347N |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,929,145 (GRCm39) |
T352S |
probably benign |
Het |
| Daam2 |
G |
A |
17: 49,787,785 (GRCm39) |
Q443* |
probably null |
Het |
| Dcbld1 |
A |
G |
10: 52,195,641 (GRCm39) |
D283G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,513,868 (GRCm39) |
E82G |
probably damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,518,074 (GRCm39) |
D42G |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,741,993 (GRCm39) |
H1130R |
probably damaging |
Het |
| Enox1 |
A |
T |
14: 77,819,839 (GRCm39) |
Y198F |
probably damaging |
Het |
| Epop |
A |
G |
11: 97,519,554 (GRCm39) |
L185P |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,868,527 (GRCm39) |
C1485S |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,253,806 (GRCm39) |
S571T |
probably benign |
Het |
| Gm5965 |
A |
T |
16: 88,575,414 (GRCm39) |
I196F |
probably null |
Het |
| Gm8237 |
T |
A |
14: 5,863,642 (GRCm38) |
I8L |
possibly damaging |
Het |
| Gria2 |
A |
C |
3: 80,614,269 (GRCm39) |
N590K |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,589,633 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,619,398 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,083,194 (GRCm39) |
D167E |
probably damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,881 (GRCm39) |
S374G |
probably benign |
Het |
| Il16 |
C |
T |
7: 83,301,202 (GRCm39) |
G307S |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,217,047 (GRCm39) |
F198S |
probably damaging |
Het |
| Lyz2 |
T |
A |
10: 117,114,558 (GRCm39) |
I124F |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,020 (GRCm39) |
C220S |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,204,931 (GRCm39) |
K1595* |
probably null |
Het |
| Naga |
G |
T |
15: 82,214,295 (GRCm39) |
D405E |
probably benign |
Het |
| Nanog |
T |
A |
6: 122,690,418 (GRCm39) |
N249K |
probably benign |
Het |
| Nhlh1 |
G |
T |
1: 171,881,570 (GRCm39) |
R99S |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 59,202,090 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
G |
4: 41,480,354 (GRCm39) |
E79G |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,746 (GRCm39) |
C160* |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or52n2 |
T |
A |
7: 104,542,080 (GRCm39) |
I252F |
probably benign |
Het |
| Prps1l3 |
T |
C |
12: 57,285,369 (GRCm39) |
V53A |
probably damaging |
Het |
| Psmd2 |
T |
G |
16: 20,481,826 (GRCm39) |
V853G |
probably damaging |
Het |
| Pycard |
A |
G |
7: 127,592,677 (GRCm39) |
I50T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
T |
A |
16: 32,097,221 (GRCm39) |
S99T |
probably benign |
Het |
| Rph3al |
A |
G |
11: 75,797,373 (GRCm39) |
S108P |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 142,071,526 (GRCm39) |
A979T |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,368 (GRCm39) |
Q216* |
probably null |
Het |
| Slc35f3 |
T |
A |
8: 127,121,312 (GRCm39) |
V391E |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,199,384 (GRCm39) |
I666F |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,167,013 (GRCm39) |
V834A |
probably damaging |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,799,455 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
T |
A |
4: 48,604,679 (GRCm39) |
C91S |
probably damaging |
Het |
| Tmem108 |
G |
T |
9: 103,366,481 (GRCm39) |
N503K |
possibly damaging |
Het |
| Trbv28 |
A |
G |
6: 41,248,541 (GRCm39) |
T24A |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,446 (GRCm39) |
E178G |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,329,696 (GRCm39) |
H546Q |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,523,799 (GRCm39) |
I153V |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,899,964 (GRCm39) |
V101A |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,926,243 (GRCm39) |
H501Q |
probably damaging |
Het |
| Upf3a |
T |
A |
8: 13,846,443 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,352,562 (GRCm39) |
S94G |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,917,573 (GRCm39) |
*381W |
probably null |
Het |
| Wdr90 |
G |
A |
17: 26,074,326 (GRCm39) |
P680S |
probably damaging |
Het |
| Zbtb22 |
G |
A |
17: 34,135,956 (GRCm39) |
V34M |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,253,689 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,231,295 (GRCm39) |
V295A |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,121,578 (GRCm39) |
V3E |
possibly damaging |
Het |
| Zfp748 |
G |
T |
13: 67,694,781 (GRCm39) |
D32E |
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 |
|
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 |
|
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'- GTGGACGAGTCACTCCTTTTGC -3'
(R):5'- GAGATCACTGTGTGCCAAGC -3'
Sequencing Primer
(F):5'- ACTCCTTTTGCGGGGCAG -3'
(R):5'- ACTGTGTGCCAAGCCAGTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation