Incidental Mutation 'R4287:Pnn'
ID |
322072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnn
|
Ensembl Gene |
ENSMUSG00000020994 |
Gene Name |
pinin |
Synonyms |
D12Ertd512e |
MMRRC Submission |
041652-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4287 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
59113705-59120803 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 59118956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 513
(T513I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021381]
[ENSMUST00000219176]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021381
AA Change: T513I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021381 Gene: ENSMUSG00000020994 AA Change: T513I
Domain | Start | End | E-Value | Type |
Pfam:Pinin_SDK_N
|
1 |
132 |
3.7e-61 |
PFAM |
Pfam:Pinin_SDK_memA
|
136 |
261 |
7.8e-38 |
PFAM |
coiled coil region
|
290 |
374 |
N/A |
INTRINSIC |
low complexity region
|
451 |
508 |
N/A |
INTRINSIC |
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
internal_repeat_1
|
559 |
572 |
9.16e-7 |
PROSPERO |
internal_repeat_1
|
563 |
576 |
9.16e-7 |
PROSPERO |
low complexity region
|
579 |
647 |
N/A |
INTRINSIC |
low complexity region
|
651 |
665 |
N/A |
INTRINSIC |
low complexity region
|
671 |
682 |
N/A |
INTRINSIC |
low complexity region
|
695 |
726 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217773
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219176
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (40/41) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele show complete perinatal lethality, edema, axial skeletal abnormalities, cardiac outflow tract defects, cleft palate, and impaired development of the dorsal dermis and brown fat tissue. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc5 |
A |
G |
5: 122,938,664 (GRCm39) |
V362A |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,973,722 (GRCm39) |
C2594S |
probably damaging |
Het |
Ccdc82 |
C |
A |
9: 13,253,043 (GRCm39) |
Q303K |
probably benign |
Het |
Cog1 |
A |
G |
11: 113,544,853 (GRCm39) |
Y345C |
probably damaging |
Het |
Fpgt |
T |
C |
3: 154,796,997 (GRCm39) |
|
probably benign |
Het |
Glrb |
A |
T |
3: 80,752,539 (GRCm39) |
V408D |
possibly damaging |
Het |
Gm7135 |
A |
G |
1: 97,328,123 (GRCm39) |
|
noncoding transcript |
Het |
Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
Itgav |
G |
T |
2: 83,555,184 (GRCm39) |
E36* |
probably null |
Het |
Kidins220 |
G |
A |
12: 25,106,845 (GRCm39) |
E1433K |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Klra3 |
A |
G |
6: 130,311,265 (GRCm39) |
C39R |
probably benign |
Het |
Lce1i |
A |
G |
3: 92,684,742 (GRCm39) |
S145P |
unknown |
Het |
Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
Mpp3 |
G |
A |
11: 101,914,289 (GRCm39) |
A102V |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
Ndufb8 |
T |
C |
19: 44,541,130 (GRCm39) |
I107V |
probably benign |
Het |
Or5h18 |
A |
T |
16: 58,847,976 (GRCm39) |
M98K |
probably benign |
Het |
Ric8a |
A |
G |
7: 140,441,335 (GRCm39) |
Y210C |
probably damaging |
Het |
Ripor2 |
G |
A |
13: 24,908,992 (GRCm39) |
V1037M |
probably damaging |
Het |
Rreb1 |
A |
T |
13: 38,115,907 (GRCm39) |
T1089S |
probably benign |
Het |
Rrs1 |
C |
T |
1: 9,616,440 (GRCm39) |
S231L |
probably damaging |
Het |
Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
Sec23ip |
A |
G |
7: 128,379,057 (GRCm39) |
D838G |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,902,276 (GRCm39) |
I464V |
probably benign |
Het |
Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
Slc41a3 |
A |
T |
6: 90,617,904 (GRCm39) |
H310L |
probably benign |
Het |
Smurf1 |
A |
G |
5: 144,828,268 (GRCm39) |
S363P |
probably benign |
Het |
Tln1 |
C |
T |
4: 43,543,509 (GRCm39) |
R1269Q |
probably benign |
Het |
Tmed3 |
A |
G |
9: 89,586,951 (GRCm39) |
S10P |
probably benign |
Het |
Tomm70a |
T |
G |
16: 56,960,985 (GRCm39) |
Y313D |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,207,039 (GRCm39) |
E810G |
probably benign |
Het |
Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
Unc5d |
T |
A |
8: 29,209,824 (GRCm39) |
Y432F |
probably benign |
Het |
Vmn2r97 |
A |
T |
17: 19,168,337 (GRCm39) |
|
probably benign |
Het |
Zfp629 |
T |
C |
7: 127,211,110 (GRCm39) |
Y233C |
probably damaging |
Het |
Zfp986 |
T |
C |
4: 145,619,088 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pnn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02267:Pnn
|
APN |
12 |
59,116,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R0350:Pnn
|
UTSW |
12 |
59,113,903 (GRCm39) |
critical splice donor site |
probably null |
|
R1853:Pnn
|
UTSW |
12 |
59,118,399 (GRCm39) |
missense |
probably damaging |
0.99 |
R1854:Pnn
|
UTSW |
12 |
59,118,399 (GRCm39) |
missense |
probably damaging |
0.99 |
R4792:Pnn
|
UTSW |
12 |
59,118,991 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4812:Pnn
|
UTSW |
12 |
59,118,404 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4933:Pnn
|
UTSW |
12 |
59,117,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R5541:Pnn
|
UTSW |
12 |
59,118,716 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5716:Pnn
|
UTSW |
12 |
59,118,658 (GRCm39) |
missense |
probably benign |
0.00 |
R5781:Pnn
|
UTSW |
12 |
59,118,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R5963:Pnn
|
UTSW |
12 |
59,114,617 (GRCm39) |
nonsense |
probably null |
|
R6877:Pnn
|
UTSW |
12 |
59,115,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R6999:Pnn
|
UTSW |
12 |
59,117,085 (GRCm39) |
critical splice donor site |
probably null |
|
R7372:Pnn
|
UTSW |
12 |
59,115,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R7458:Pnn
|
UTSW |
12 |
59,119,200 (GRCm39) |
missense |
unknown |
|
R7535:Pnn
|
UTSW |
12 |
59,118,923 (GRCm39) |
missense |
probably benign |
0.00 |
R8171:Pnn
|
UTSW |
12 |
59,117,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R8264:Pnn
|
UTSW |
12 |
59,119,363 (GRCm39) |
missense |
unknown |
|
R9246:Pnn
|
UTSW |
12 |
59,116,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R9404:Pnn
|
UTSW |
12 |
59,118,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R9579:Pnn
|
UTSW |
12 |
59,117,030 (GRCm39) |
missense |
possibly damaging |
0.72 |
Z1177:Pnn
|
UTSW |
12 |
59,119,585 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCTCTTTCTCCTGGAAAAGAGA -3'
(R):5'- ATCTCGGTTATGTCCTCGGC -3'
Sequencing Primer
(F):5'- TTCTCAGGAAGTGGAAAAGGAGTCTG -3'
(R):5'- TAGAGCTGCTACTGGAACTACTGC -3'
|
Posted On |
2015-06-20 |