Incidental Mutation 'R9070:Pitpnm2'
| ID |
689487 |
| 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 # |
R9070 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124259375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1320
(R1320L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031351]
[ENSMUST00000086123]
[ENSMUST00000122394]
[ENSMUST00000145667]
[ENSMUST00000149835]
[ENSMUST00000161273]
[ENSMUST00000161938]
[ENSMUST00000162812]
[ENSMUST00000196401]
|
| AlphaFold |
Q6ZPQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031351
|
| SMART Domains |
Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
7 |
227 |
2.7e-104 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086123
AA Change: R1266L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: R1266L
| 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: ENSMUST00000122394
|
| SMART Domains |
Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
2 |
199 |
6.3e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145667
|
| SMART Domains |
Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
19 |
227 |
3e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149835
|
| SMART Domains |
Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
32 |
N/A |
INTRINSIC |
|
SCOP:d1l9ha_
|
58 |
84 |
7e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161273
AA Change: R1316L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: R1316L
| 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: R1320L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: R1320L
| 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: R1266L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: R1266L
| 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: ENSMUST00000196401
|
| SMART Domains |
Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4690 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,100,770 (GRCm39) |
L774P |
probably damaging |
Het |
| Aldh2 |
T |
C |
5: 121,707,032 (GRCm39) |
E495G |
probably damaging |
Het |
| Als2cl |
T |
C |
9: 110,718,288 (GRCm39) |
V343A |
probably benign |
Het |
| Antxrl |
T |
A |
14: 33,793,671 (GRCm39) |
C466* |
probably null |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,329 (GRCm39) |
N446D |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,833 (GRCm39) |
L130P |
probably damaging |
Het |
| Barhl1 |
C |
A |
2: 28,805,423 (GRCm39) |
R90L |
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,958,931 (GRCm39) |
M1149V |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,987,295 (GRCm39) |
S106L |
|
Het |
| Calu |
A |
G |
6: 29,356,567 (GRCm39) |
E31G |
probably benign |
Het |
| Cdh23 |
T |
G |
10: 60,173,539 (GRCm39) |
I1650L |
probably benign |
Het |
| Ceacam9 |
T |
C |
7: 16,457,787 (GRCm39) |
V100A |
possibly damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,654,793 (GRCm39) |
S159R |
possibly damaging |
Het |
| Dpyd |
T |
G |
3: 118,792,892 (GRCm39) |
I533S |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,514,373 (GRCm39) |
D1016G |
possibly damaging |
Het |
| Fv1 |
T |
A |
4: 147,954,414 (GRCm39) |
W327R |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,762 (GRCm39) |
D411G |
probably benign |
Het |
| Gldc |
A |
T |
19: 30,080,404 (GRCm39) |
D885E |
probably damaging |
Het |
| H4c3 |
A |
G |
13: 23,882,170 (GRCm39) |
V88A |
probably damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,371 (GRCm39) |
W82R |
possibly damaging |
Het |
| Hif1an |
A |
G |
19: 44,551,458 (GRCm39) |
S48G |
probably benign |
Het |
| Itgal |
C |
T |
7: 126,927,873 (GRCm39) |
R1023W |
probably null |
Het |
| Kif13a |
C |
A |
13: 46,905,934 (GRCm39) |
A1618S |
probably benign |
Het |
| Lrrc57 |
A |
G |
2: 120,436,565 (GRCm39) |
L181P |
probably damaging |
Het |
| Mptx2 |
T |
A |
1: 173,102,119 (GRCm39) |
D190V |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,656,688 (GRCm39) |
F590L |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,936,103 (GRCm39) |
I381T |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,368,215 (GRCm39) |
K1169I |
possibly damaging |
Het |
| Nop9 |
G |
A |
14: 55,990,757 (GRCm39) |
R563H |
probably damaging |
Het |
| Obscn |
A |
T |
11: 59,013,457 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,268 (GRCm39) |
S291R |
probably damaging |
Het |
| Or2b2b |
A |
T |
13: 21,858,985 (GRCm39) |
M43K |
probably benign |
Het |
| Pcgf1 |
T |
A |
6: 83,057,076 (GRCm39) |
H202Q |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,715,601 (GRCm39) |
L1883P |
probably benign |
Het |
| Pde4b |
T |
C |
4: 102,458,994 (GRCm39) |
S505P |
probably damaging |
Het |
| Plscr4 |
C |
A |
9: 92,372,281 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
C |
T |
6: 25,744,629 (GRCm39) |
R625Q |
|
Het |
| Pou4f1 |
A |
G |
14: 104,704,067 (GRCm39) |
S122P |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,208 (GRCm39) |
V1029A |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,427,707 (GRCm39) |
F982L |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rbks |
A |
G |
5: 31,854,890 (GRCm39) |
V19A |
probably benign |
Het |
| Rps18-ps5 |
A |
G |
13: 28,441,902 (GRCm39) |
Y95C |
probably benign |
Het |
| Rps20 |
A |
T |
4: 3,835,280 (GRCm39) |
D5E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,447,751 (GRCm39) |
P3266T |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,175,507 (GRCm39) |
|
probably benign |
Het |
| Slc28a2b |
A |
G |
2: 122,352,154 (GRCm39) |
T331A |
probably damaging |
Het |
| Tasor |
T |
C |
14: 27,194,484 (GRCm39) |
V1228A |
probably benign |
Het |
| Trdv5 |
T |
C |
14: 54,386,258 (GRCm39) |
D69G |
probably damaging |
Het |
| Treml4 |
G |
T |
17: 48,576,781 (GRCm39) |
G180C |
probably 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 |
|
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 |
|
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'- ATGGCCATGTCTTCCAAGGG -3'
(R):5'- AAGTACAATCACCGGGCTC -3'
Sequencing Primer
(F):5'- ATGTCTTCCAAGGGGCCCTG -3'
(R):5'- TTTGCGCAAGGGCAGCTTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation