Incidental Mutation 'R5716:Pnn'
| ID |
451189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnn
|
| Ensembl Gene |
ENSMUSG00000020994 |
| Gene Name |
pinin |
| Synonyms |
D12Ertd512e |
| MMRRC Submission |
043187-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
59113705-59120803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59118658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 414
(I414V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021381]
[ENSMUST00000219176]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021381
AA Change: I414V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021381
Gene: ENSMUSG00000020994
AA Change: I414V
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
C |
11: 58,312,594 (GRCm39) |
V24A |
possibly damaging |
Het |
| Abca14 |
G |
A |
7: 119,846,217 (GRCm39) |
|
probably null |
Het |
| Acad12 |
A |
G |
5: 121,748,046 (GRCm39) |
V124A |
probably benign |
Het |
| Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,564 (GRCm39) |
E179G |
probably damaging |
Het |
| Brf2 |
A |
G |
8: 27,616,074 (GRCm39) |
S104P |
probably benign |
Het |
| Coq8a |
A |
T |
1: 180,006,825 (GRCm39) |
Y21N |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,193,709 (GRCm39) |
F924L |
probably damaging |
Het |
| Dpyd |
G |
T |
3: 118,692,828 (GRCm39) |
C324F |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,990,494 (GRCm39) |
Y33H |
probably benign |
Het |
| Fry |
C |
T |
5: 150,293,686 (GRCm39) |
Q460* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,257,808 (GRCm39) |
I665V |
probably benign |
Het |
| Gpank1 |
A |
G |
17: 35,342,229 (GRCm39) |
K90E |
probably damaging |
Het |
| Hexd |
A |
G |
11: 121,112,388 (GRCm39) |
I482V |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,226,579 (GRCm39) |
E185K |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,348,750 (GRCm39) |
E4922G |
possibly damaging |
Het |
| Ino80d |
A |
T |
1: 63,097,856 (GRCm39) |
D679E |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,807,546 (GRCm39) |
C2608S |
probably benign |
Het |
| Kars1 |
T |
A |
8: 112,730,074 (GRCm39) |
|
probably null |
Het |
| Lcn2 |
A |
G |
2: 32,275,825 (GRCm39) |
V211A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,692 (GRCm39) |
V70E |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,208,798 (GRCm39) |
|
probably null |
Het |
| Megf11 |
T |
C |
9: 64,413,392 (GRCm39) |
F60L |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,675 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,100,596 (GRCm39) |
H4438L |
probably benign |
Het |
| Nuf2 |
C |
A |
1: 169,349,958 (GRCm39) |
V107F |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or6c8 |
T |
A |
10: 128,915,424 (GRCm39) |
N136I |
probably benign |
Het |
| Or9i2 |
C |
T |
19: 13,816,003 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pabpn1l |
A |
G |
8: 123,347,160 (GRCm39) |
V215A |
probably damaging |
Het |
| Rab11fip3 |
A |
G |
17: 26,255,638 (GRCm39) |
Y539H |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,638,828 (GRCm39) |
V13A |
probably benign |
Het |
| Sephs1 |
T |
C |
2: 4,889,389 (GRCm39) |
F56L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,967,105 (GRCm39) |
P816S |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,844 (GRCm39) |
L291P |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,343,147 (GRCm39) |
I1157L |
probably benign |
Het |
| Tmem184c |
T |
C |
8: 78,333,036 (GRCm39) |
H85R |
possibly damaging |
Het |
| Tmem94 |
T |
C |
11: 115,683,254 (GRCm39) |
V679A |
probably benign |
Het |
| Tpcn2 |
A |
C |
7: 144,811,550 (GRCm39) |
F566V |
possibly damaging |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,473 (GRCm39) |
N298D |
probably benign |
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 |
|
R4287:Pnn
|
UTSW |
12 |
59,118,956 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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'- GCAGGTATAGTTCATAGTGATGCAG -3'
(R):5'- TGGCAAAGTCTCAGGCTGAC -3'
Sequencing Primer
(F):5'- TTCATAGTGATGCAGAGAAAGAAC -3'
(R):5'- TCTCAGGCTGACAGAGAGGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation