Incidental Mutation 'R9439:Pitpnm2'
| ID |
713424 |
| 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 # |
R9439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124274189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 307
(S307P)
|
| 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: S307P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: S307P
| 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 damaging
Transcript: ENSMUST00000159677
AA Change: S307P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406
AA Change: S307P
| 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: S307P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: S307P
| 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: S307P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: S307P
| 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: S307P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: S307P
| 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 |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,048 (GRCm39) |
E412D |
probably benign |
Het |
| Aak1 |
T |
A |
6: 86,933,274 (GRCm39) |
V415D |
probably damaging |
Het |
| Ache |
A |
C |
5: 137,289,185 (GRCm39) |
D297A |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,084,687 (GRCm39) |
I4T |
possibly damaging |
Het |
| Atp8b2 |
T |
A |
3: 89,851,492 (GRCm39) |
Y925F |
|
Het |
| Avpr1b |
T |
C |
1: 131,528,029 (GRCm39) |
L184P |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,581,069 (GRCm39) |
P419L |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,884,597 (GRCm39) |
S1578G |
probably benign |
Het |
| Ccnd2 |
A |
T |
6: 127,127,617 (GRCm39) |
C40* |
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,744,155 (GRCm39) |
I471N |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,046,671 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
C |
T |
11: 46,091,668 (GRCm39) |
R1084Q |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,412 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,012,330 (GRCm39) |
N3713S |
possibly damaging |
Het |
| Dot1l |
G |
T |
10: 80,621,438 (GRCm39) |
R633L |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,715,030 (GRCm39) |
M809K |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,803,436 (GRCm39) |
A1680E |
possibly damaging |
Het |
| Flt1 |
A |
G |
5: 147,515,207 (GRCm39) |
F1072L |
probably damaging |
Het |
| Gm19410 |
G |
T |
8: 36,248,810 (GRCm39) |
A549S |
probably damaging |
Het |
| Gm57859 |
C |
T |
11: 113,583,229 (GRCm39) |
Q519* |
probably null |
Het |
| Gnat1 |
A |
T |
9: 107,553,511 (GRCm39) |
I249N |
|
Het |
| Gp2 |
T |
C |
7: 119,053,433 (GRCm39) |
Y176C |
probably damaging |
Het |
| Gpc2 |
G |
T |
5: 138,277,248 (GRCm39) |
Q60K |
probably benign |
Het |
| Gpsm2 |
T |
A |
3: 108,610,397 (GRCm39) |
E21V |
probably damaging |
Het |
| Igkv4-80 |
T |
A |
6: 68,993,793 (GRCm39) |
M33L |
probably benign |
Het |
| Il20ra |
C |
A |
10: 19,618,751 (GRCm39) |
H66Q |
probably benign |
Het |
| Kap |
C |
T |
6: 133,828,950 (GRCm39) |
D61N |
probably benign |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,461,692 (GRCm39) |
Y60* |
probably null |
Het |
| Neil1 |
T |
A |
9: 57,051,098 (GRCm39) |
R294* |
probably null |
Het |
| Nkx6-3 |
A |
G |
8: 23,643,778 (GRCm39) |
S60G |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,326,130 (GRCm39) |
S406T |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,247 (GRCm39) |
V298A |
possibly damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,825 (GRCm39) |
I163T |
probably benign |
Het |
| Or2h2c |
A |
G |
17: 37,422,205 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,104 (GRCm39) |
C145R |
probably benign |
Het |
| Or51ac3 |
T |
G |
7: 103,214,049 (GRCm39) |
I146L |
probably benign |
Het |
| Or5p81 |
T |
C |
7: 108,266,626 (GRCm39) |
M1T |
probably null |
Het |
| Paqr4 |
A |
G |
17: 23,958,939 (GRCm39) |
F21L |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,527 (GRCm39) |
T199A |
probably benign |
Het |
| Pcdhgb7 |
T |
C |
18: 37,884,917 (GRCm39) |
L29P |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,831,172 (GRCm39) |
A323V |
probably damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,528,041 (GRCm39) |
P465T |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,023,036 (GRCm39) |
V613I |
probably benign |
Het |
| Prr23a2 |
C |
T |
9: 98,738,921 (GRCm39) |
T93I |
probably damaging |
Het |
| Ptk6 |
T |
A |
2: 180,840,206 (GRCm39) |
M267L |
possibly damaging |
Het |
| Rabl6 |
C |
T |
2: 25,492,432 (GRCm39) |
|
probably null |
Het |
| Ralgapa2 |
T |
C |
2: 146,254,058 (GRCm39) |
H787R |
probably benign |
Het |
| Rfx8 |
T |
G |
1: 39,724,669 (GRCm39) |
M231L |
probably benign |
Het |
| Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
| Smpd4 |
A |
G |
16: 17,459,451 (GRCm39) |
I625V |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,765,740 (GRCm39) |
S66P |
probably damaging |
Het |
| Tsc22d1 |
G |
A |
14: 76,743,899 (GRCm39) |
V1007M |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,665,535 (GRCm39) |
R758C |
probably damaging |
Het |
| Vmn1r210 |
A |
C |
13: 23,011,397 (GRCm39) |
H296Q |
possibly damaging |
Het |
| Zfp532 |
G |
A |
18: 65,818,714 (GRCm39) |
V857I |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,501,538 (GRCm39) |
T593A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGCTGGGTTCACTTCACG -3'
(R):5'- GGACTGACCATGGAGAAAATCC -3'
Sequencing Primer
(F):5'- CACCTGGTACCACTTAGAAA -3'
(R):5'- GAGGGAGGTGCAGCTCATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation