Incidental Mutation 'R9438:Pitpnm2'
| ID |
713362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124269342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 427
(H427Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086123]
[ENSMUST00000159677]
[ENSMUST00000161273]
[ENSMUST00000161938]
[ENSMUST00000162812]
|
| AlphaFold |
Q6ZPQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086123
AA Change: H427Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: H427Y
| 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
|
| 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: H427Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: H427Y
| 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 |
probably damaging
Transcript: ENSMUST00000161938
AA Change: H427Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: H427Y
| 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 damaging
Transcript: ENSMUST00000162812
AA Change: H427Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: H427Y
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
G |
A |
2: 91,033,339 (GRCm39) |
M20I |
probably benign |
Het |
| Adgra1 |
C |
T |
7: 139,432,525 (GRCm39) |
P121L |
probably benign |
Het |
| Arhgap39 |
C |
A |
15: 76,636,118 (GRCm39) |
R39L |
probably damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,215,631 (GRCm39) |
N261K |
possibly damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,361,409 (GRCm39) |
A838T |
probably damaging |
Het |
| Cacng8 |
G |
A |
7: 3,463,919 (GRCm39) |
S357N |
unknown |
Het |
| Calhm5 |
T |
C |
10: 33,972,049 (GRCm39) |
M129V |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Cdk19 |
T |
A |
10: 40,352,176 (GRCm39) |
D319E |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,799,078 (GRCm39) |
S2336P |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,144,024 (GRCm39) |
|
probably null |
Het |
| Cts6 |
G |
A |
13: 61,350,069 (GRCm39) |
T4I |
probably benign |
Het |
| Ddt |
A |
T |
10: 75,607,332 (GRCm39) |
I98N |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 38,026,443 (GRCm39) |
V465G |
unknown |
Het |
| Dnah2 |
G |
T |
11: 69,364,220 (GRCm39) |
D2064E |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,827,190 (GRCm39) |
N969D |
probably benign |
Het |
| Dot1l |
T |
A |
10: 80,627,120 (GRCm39) |
V1447E |
probably benign |
Het |
| Efs |
T |
A |
14: 55,156,868 (GRCm39) |
D389V |
|
Het |
| Gbp11 |
T |
A |
5: 105,474,471 (GRCm39) |
K402* |
probably null |
Het |
| Grm7 |
A |
T |
6: 111,231,077 (GRCm39) |
D500V |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,481,414 (GRCm39) |
M439V |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,754,434 (GRCm39) |
S551P |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,243,839 (GRCm39) |
S779P |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,068,166 (GRCm39) |
N2437S |
probably benign |
Het |
| Kbtbd12 |
G |
A |
6: 88,591,040 (GRCm39) |
Q391* |
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,417,653 (GRCm39) |
I859V |
probably benign |
Het |
| Klri1 |
A |
C |
6: 129,675,879 (GRCm39) |
D130E |
probably benign |
Het |
| Krt9 |
A |
G |
11: 100,079,824 (GRCm39) |
Y523H |
unknown |
Het |
| Ldhc |
G |
T |
7: 46,515,857 (GRCm39) |
V51F |
possibly damaging |
Het |
| Macf1 |
G |
T |
4: 123,279,366 (GRCm39) |
D5890E |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,045,952 (GRCm39) |
S613G |
probably damaging |
Het |
| Mrpl55 |
A |
G |
11: 59,096,581 (GRCm39) |
D118G |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,559,028 (GRCm39) |
T2422A |
unknown |
Het |
| Nfkbib |
T |
A |
7: 28,459,654 (GRCm39) |
D219V |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,632 (GRCm39) |
K50E |
probably damaging |
Het |
| Nudcd1 |
C |
T |
15: 44,269,321 (GRCm39) |
R113H |
probably benign |
Het |
| Or5p55 |
A |
T |
7: 107,567,000 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or7e170 |
C |
T |
9: 19,795,083 (GRCm39) |
E173K |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,326 (GRCm39) |
C127* |
probably null |
Het |
| Papln |
A |
T |
12: 83,818,606 (GRCm39) |
T63S |
probably benign |
Het |
| Pax4 |
T |
C |
6: 28,446,185 (GRCm39) |
I103V |
possibly damaging |
Het |
| Plk5 |
T |
A |
10: 80,193,867 (GRCm39) |
V52E |
probably damaging |
Het |
| Prr23a4 |
G |
A |
9: 98,785,833 (GRCm39) |
S166N |
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,364,226 (GRCm39) |
H600R |
unknown |
Het |
| Rbbp6 |
G |
A |
7: 122,599,456 (GRCm39) |
V1256I |
|
Het |
| Rexo1 |
T |
A |
10: 80,378,848 (GRCm39) |
T1063S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,265,574 (GRCm39) |
R387G |
possibly damaging |
Het |
| Rufy3 |
T |
C |
5: 88,796,124 (GRCm39) |
S603P |
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,285,944 (GRCm39) |
H330R |
unknown |
Het |
| Strc |
A |
T |
2: 121,198,647 (GRCm39) |
W1415R |
probably damaging |
Het |
| Tcstv5 |
A |
G |
13: 120,411,363 (GRCm39) |
L81P |
probably benign |
Het |
| Terf2 |
C |
A |
8: 107,803,504 (GRCm39) |
A359S |
probably benign |
Het |
| Tmod1 |
A |
G |
4: 46,093,958 (GRCm39) |
N223S |
probably damaging |
Het |
| Tram2 |
T |
A |
1: 21,075,834 (GRCm39) |
I195F |
possibly damaging |
Het |
| Trap1 |
T |
C |
16: 3,883,131 (GRCm39) |
Q148R |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,607,095 (GRCm39) |
R143* |
probably null |
Het |
| Ttc14 |
T |
A |
3: 33,858,861 (GRCm39) |
H373Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,747,748 (GRCm39) |
K4434E |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,522,833 (GRCm39) |
D347G |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,858,314 (GRCm39) |
E2170G |
|
Het |
| Xrn1 |
T |
C |
9: 95,893,287 (GRCm39) |
I1001T |
probably benign |
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 |
|
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 |
|
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'- CGAAGGCATCAGCACAGATG -3'
(R):5'- TCCTTGAGTCTGTTGTGACC -3'
Sequencing Primer
(F):5'- CATCAGCACAGATGGGTGG -3'
(R):5'- TGGCAAGGACTTCATGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation