Incidental Mutation 'R7736:Pitpnm2'
| ID |
596250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
NIR3, RDGBA2, Rdgb2 |
| MMRRC Submission |
045792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124118690-124249760 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124123030 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1027
(V1027A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031351]
[ENSMUST00000086123]
[ENSMUST00000122394]
[ENSMUST00000145667]
[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 |
possibly damaging
Transcript: ENSMUST00000086123
AA Change: V973A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: V973A
| 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: ENSMUST00000161273
AA Change: V1023A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: V1023A
| 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 |
possibly damaging
Transcript: ENSMUST00000161938
AA Change: V1027A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: V1027A
| 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: V973A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: V973A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,319,964 (GRCm38) |
D561A |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,005,337 (GRCm38) |
F204S |
probably benign |
Het |
| Apoa2 |
T |
C |
1: 171,226,172 (GRCm38) |
L72P |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 14,980,583 (GRCm38) |
K987* |
probably null |
Het |
| Arrb1 |
A |
G |
7: 99,539,774 (GRCm38) |
D9G |
unknown |
Het |
| Asph |
A |
G |
4: 9,621,930 (GRCm38) |
S192P |
possibly damaging |
Het |
| Bcas1 |
G |
A |
2: 170,387,164 (GRCm38) |
T309M |
possibly damaging |
Het |
| Bcat2 |
C |
T |
7: 45,585,193 (GRCm38) |
T166M |
possibly damaging |
Het |
| Bmp5 |
A |
T |
9: 75,893,790 (GRCm38) |
I401L |
probably damaging |
Het |
| Bpifb9b |
G |
A |
2: 154,312,105 (GRCm38) |
G261R |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,767,936 (GRCm38) |
Y106F |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,053,520 (GRCm38) |
D366V |
probably benign |
Het |
| Ceacam10 |
G |
C |
7: 24,781,211 (GRCm38) |
V256L |
unknown |
Het |
| Cilp2 |
A |
G |
8: 69,881,421 (GRCm38) |
Y976H |
probably damaging |
Het |
| Cklf |
A |
G |
8: 104,261,555 (GRCm38) |
T107A |
possibly damaging |
Het |
| Dhx16 |
T |
A |
17: 35,881,676 (GRCm38) |
W167R |
possibly damaging |
Het |
| Dkk2 |
T |
G |
3: 132,178,014 (GRCm38) |
L225R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 131,116,896 (GRCm38) |
D1782V |
unknown |
Het |
| Ebag9 |
A |
T |
15: 44,628,404 (GRCm38) |
D64V |
probably damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,477,317 (GRCm38) |
N144D |
possibly damaging |
Het |
| Elp1 |
T |
C |
4: 56,776,920 (GRCm38) |
T626A |
possibly damaging |
Het |
| Foxk2 |
A |
T |
11: 121,299,647 (GRCm38) |
Q538L |
possibly damaging |
Het |
| Fpgt |
T |
G |
3: 155,087,110 (GRCm38) |
I427L |
probably benign |
Het |
| Ganc |
A |
T |
2: 120,433,814 (GRCm38) |
N416I |
possibly damaging |
Het |
| Gata6 |
A |
G |
18: 11,084,379 (GRCm38) |
Y556C |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,990,524 (GRCm38) |
V534E |
probably damaging |
Het |
| Gm6904 |
C |
T |
14: 59,251,145 (GRCm38) |
D68N |
probably benign |
Het |
| Gm7324 |
T |
A |
14: 43,714,799 (GRCm38) |
S300T |
possibly damaging |
Het |
| Gprc6a |
A |
C |
10: 51,615,453 (GRCm38) |
N733K |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 120,095,543 (GRCm38) |
T352I |
possibly damaging |
Het |
| Ift88 |
T |
G |
14: 57,445,664 (GRCm38) |
V266G |
probably benign |
Het |
| Ip6k1 |
G |
T |
9: 108,045,692 (GRCm38) |
G341V |
probably damaging |
Het |
| Itga3 |
G |
T |
11: 95,076,203 (GRCm38) |
A45E |
probably damaging |
Het |
| Kctd14 |
T |
A |
7: 97,457,940 (GRCm38) |
L134Q |
probably damaging |
Het |
| Lats1 |
C |
A |
10: 7,702,364 (GRCm38) |
N417K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,497,459 (GRCm38) |
H2380R |
unknown |
Het |
| Lrrc4c |
A |
G |
2: 97,630,360 (GRCm38) |
T444A |
probably benign |
Het |
| M1ap |
T |
C |
6: 83,005,584 (GRCm38) |
I283T |
probably benign |
Het |
| Mapre2 |
T |
C |
18: 23,877,955 (GRCm38) |
S207P |
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,282,710 (GRCm38) |
F421L |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,922,366 (GRCm38) |
C33* |
probably null |
Het |
| Or14j4 |
A |
T |
17: 37,610,412 (GRCm38) |
L113H |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,640,185 (GRCm38) |
I49F |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,664,414 (GRCm38) |
T7A |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 79,655,765 (GRCm38) |
I201T |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 154,969,747 (GRCm38) |
Y128H |
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,969,623 (GRCm38) |
V8A |
probably benign |
Het |
| Por |
A |
G |
5: 135,731,122 (GRCm38) |
E221G |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,381,580 (GRCm38) |
L14* |
probably null |
Het |
| Ptgis |
A |
G |
2: 167,191,971 (GRCm38) |
F459S |
unknown |
Het |
| Ptpru |
T |
C |
4: 131,788,382 (GRCm38) |
E887G |
probably damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,457,541 (GRCm38) |
|
probably benign |
Het |
| Slc18a1 |
A |
G |
8: 69,065,554 (GRCm38) |
|
probably null |
Het |
| Slc27a3 |
A |
G |
3: 90,389,433 (GRCm38) |
S120P |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,664,818 (GRCm38) |
Y191N |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,367,724 (GRCm38) |
M57K |
probably benign |
Het |
| Syncrip |
A |
G |
9: 88,461,668 (GRCm38) |
|
probably null |
Het |
| Taar4 |
T |
A |
10: 23,960,999 (GRCm38) |
V169E |
probably damaging |
Het |
| Tas1r1 |
C |
T |
4: 152,032,466 (GRCm38) |
G237D |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,199,334 (GRCm38) |
K30E |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,940,568 (GRCm38) |
L330Q |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,053,455 (GRCm38) |
F698L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,909,230 (GRCm38) |
Q3701L |
unknown |
Het |
| Vmn2r17 |
G |
A |
5: 109,452,891 (GRCm38) |
R685K |
probably benign |
Het |
| Ylpm1 |
C |
A |
12: 85,012,983 (GRCm38) |
A321E |
unknown |
Het |
| Zdbf2 |
T |
A |
1: 63,308,007 (GRCm38) |
Y1848* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,169,532 (GRCm38) |
N61K |
probably null |
Het |
| Zfp867 |
C |
T |
11: 59,463,190 (GRCm38) |
A438T |
probably damaging |
Het |
| Zkscan14 |
G |
A |
5: 145,195,509 (GRCm38) |
T404I |
probably benign |
Het |
| Zrsr2-ps1 |
C |
T |
11: 22,973,510 (GRCm38) |
Q95* |
probably null |
Het |
|
| Other mutations in Pitpnm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Pitpnm2
|
APN |
5 |
124,121,663 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01660:Pitpnm2
|
APN |
5 |
124,123,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02328:Pitpnm2
|
APN |
5 |
124,121,414 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02340:Pitpnm2
|
APN |
5 |
124,130,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02399:Pitpnm2
|
APN |
5 |
124,140,758 (GRCm38) |
splice site |
probably benign |
|
|
IGL02719:Pitpnm2
|
APN |
5 |
124,140,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03053:Pitpnm2
|
APN |
5 |
124,143,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03083:Pitpnm2
|
APN |
5 |
124,133,382 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
PIT4131001:Pitpnm2
|
UTSW |
5 |
124,131,115 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0058:Pitpnm2
|
UTSW |
5 |
124,124,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0437:Pitpnm2
|
UTSW |
5 |
124,131,089 (GRCm38) |
splice site |
probably benign |
|
|
R0530:Pitpnm2
|
UTSW |
5 |
124,131,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0568:Pitpnm2
|
UTSW |
5 |
124,140,517 (GRCm38) |
splice site |
probably benign |
|
|
R0926:Pitpnm2
|
UTSW |
5 |
124,131,209 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1625:Pitpnm2
|
UTSW |
5 |
124,133,433 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2008:Pitpnm2
|
UTSW |
5 |
124,152,621 (GRCm38) |
start codon destroyed |
probably damaging |
0.99 |
|
R2120:Pitpnm2
|
UTSW |
5 |
124,127,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2354:Pitpnm2
|
UTSW |
5 |
124,122,919 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2448:Pitpnm2
|
UTSW |
5 |
124,123,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2509:Pitpnm2
|
UTSW |
5 |
124,136,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2510:Pitpnm2
|
UTSW |
5 |
124,136,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2511:Pitpnm2
|
UTSW |
5 |
124,136,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2520:Pitpnm2
|
UTSW |
5 |
124,129,401 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2860:Pitpnm2
|
UTSW |
5 |
124,121,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2861:Pitpnm2
|
UTSW |
5 |
124,121,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4407:Pitpnm2
|
UTSW |
5 |
124,152,615 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R4417:Pitpnm2
|
UTSW |
5 |
124,123,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4426:Pitpnm2
|
UTSW |
5 |
124,142,123 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4458:Pitpnm2
|
UTSW |
5 |
124,121,376 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4610:Pitpnm2
|
UTSW |
5 |
124,125,371 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4786:Pitpnm2
|
UTSW |
5 |
124,121,743 (GRCm38) |
nonsense |
probably null |
|
|
R4903:Pitpnm2
|
UTSW |
5 |
124,152,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5151:Pitpnm2
|
UTSW |
5 |
124,136,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5315:Pitpnm2
|
UTSW |
5 |
124,121,933 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5592:Pitpnm2
|
UTSW |
5 |
124,142,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5792:Pitpnm2
|
UTSW |
5 |
124,130,321 (GRCm38) |
nonsense |
probably null |
|
|
R6846:Pitpnm2
|
UTSW |
5 |
124,131,171 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6983:Pitpnm2
|
UTSW |
5 |
124,133,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7096:Pitpnm2
|
UTSW |
5 |
124,129,261 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7188:Pitpnm2
|
UTSW |
5 |
124,121,303 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7203:Pitpnm2
|
UTSW |
5 |
124,121,459 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7237:Pitpnm2
|
UTSW |
5 |
124,125,297 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7257:Pitpnm2
|
UTSW |
5 |
124,125,356 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7622:Pitpnm2
|
UTSW |
5 |
124,122,027 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7677:Pitpnm2
|
UTSW |
5 |
124,123,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7745:Pitpnm2
|
UTSW |
5 |
124,128,705 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8041:Pitpnm2
|
UTSW |
5 |
124,121,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9070:Pitpnm2
|
UTSW |
5 |
124,121,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9218:Pitpnm2
|
UTSW |
5 |
124,127,281 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9423:Pitpnm2
|
UTSW |
5 |
124,133,406 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9438:Pitpnm2
|
UTSW |
5 |
124,131,279 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9439:Pitpnm2
|
UTSW |
5 |
124,140,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9439:Pitpnm2
|
UTSW |
5 |
124,136,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAACAGGCCAGAGCATC -3'
(R):5'- AGTTGCCAATGAGGATGGCC -3'
Sequencing Primer
(F):5'- TCCTATACCCAGGAGGCTG -3'
(R):5'- TAGACATGGTCACCCTGA -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation