Incidental Mutation 'R2369:Paqr6'
| ID |
246422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paqr6
|
| Ensembl Gene |
ENSMUSG00000041423 |
| Gene Name |
progestin and adipoQ receptor family member VI |
| Synonyms |
1500001B10Rik |
| MMRRC Submission |
040349-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2369 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88271891-88275848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88273260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 84
(L84P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
[ENSMUST00000075523]
[ENSMUST00000107542]
[ENSMUST00000107543]
[ENSMUST00000147991]
[ENSMUST00000147948]
|
| AlphaFold |
Q6TCG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001451
|
| SMART Domains |
Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
Pfam:EST1
|
77 |
189 |
1.1e-26 |
PFAM |
|
Pfam:EST1_DNA_bind
|
197 |
427 |
4.6e-53 |
PFAM |
|
low complexity region
|
447 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
501 |
N/A |
INTRINSIC |
|
Pfam:EST1_DNA_bind
|
611 |
745 |
3.7e-9 |
PFAM |
|
coiled coil region
|
801 |
842 |
N/A |
INTRINSIC |
|
PINc
|
856 |
979 |
3.23e-15 |
SMART |
|
low complexity region
|
990 |
999 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075523
|
| SMART Domains |
Protein: ENSMUSP00000074965
Gene: ENSMUSG00000074489
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
GLA
|
31 |
91 |
5.9e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107542
|
| SMART Domains |
Protein: ENSMUSP00000103166
Gene: ENSMUSG00000074489
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
GLA
|
31 |
91 |
5.9e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107543
|
| SMART Domains |
Protein: ENSMUSP00000103167
Gene: ENSMUSG00000074489
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
GLA
|
31 |
91 |
5.9e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123200
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147818
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147991
AA Change: L84P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423
AA Change: L84P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
43 |
271 |
5.5e-51 |
PFAM |
|
transmembrane domain
|
292 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152477
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147948
|
| SMART Domains |
Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
59 |
161 |
6.8e-18 |
PFAM |
|
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
A |
T |
1: 57,421,950 (GRCm39) |
N109Y |
possibly damaging |
Het |
| 9230112D13Rik |
A |
T |
14: 34,233,913 (GRCm39) |
I126N |
unknown |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Ahcyl1 |
T |
C |
3: 107,577,556 (GRCm39) |
D288G |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,408,849 (GRCm39) |
|
probably null |
Het |
| Ccdc33 |
A |
T |
9: 57,983,913 (GRCm39) |
S220T |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,496,028 (GRCm39) |
K69N |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,317,610 (GRCm39) |
R749G |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,149,030 (GRCm39) |
N207S |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Esco2 |
G |
A |
14: 66,059,189 (GRCm39) |
A496V |
probably damaging |
Het |
| Gbp5 |
A |
T |
3: 142,206,480 (GRCm39) |
M55L |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,757,962 (GRCm39) |
Y373C |
probably damaging |
Het |
| Hbs1l |
T |
A |
10: 21,183,644 (GRCm39) |
S128R |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,950,090 (GRCm39) |
M28V |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,444,512 (GRCm39) |
|
probably benign |
Het |
| Met |
G |
A |
6: 17,531,527 (GRCm39) |
V602I |
probably benign |
Het |
| Ndufaf7 |
C |
A |
17: 79,252,461 (GRCm39) |
A290E |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,804,924 (GRCm39) |
Q1593R |
probably benign |
Het |
| Npl |
A |
G |
1: 153,394,623 (GRCm39) |
|
probably null |
Het |
| Pros1 |
A |
G |
16: 62,748,432 (GRCm39) |
Y635C |
probably damaging |
Het |
| Rad1 |
C |
A |
15: 10,486,745 (GRCm39) |
N47K |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,615,258 (GRCm39) |
F304L |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,709,992 (GRCm39) |
V432E |
probably damaging |
Het |
| Wdr72 |
A |
G |
9: 74,117,457 (GRCm39) |
K723R |
possibly damaging |
Het |
| Xpo7 |
G |
A |
14: 70,925,171 (GRCm39) |
R493* |
probably null |
Het |
| Zfp11 |
G |
A |
5: 129,733,529 (GRCm39) |
P644L |
probably benign |
Het |
|
| Other mutations in Paqr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02342:Paqr6
|
APN |
3 |
88,273,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Paqr6
|
APN |
3 |
88,273,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Paqr6
|
UTSW |
3 |
88,273,084 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0883:Paqr6
|
UTSW |
3 |
88,273,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Paqr6
|
UTSW |
3 |
88,273,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5103:Paqr6
|
UTSW |
3 |
88,275,024 (GRCm39) |
nonsense |
probably null |
|
|
R5922:Paqr6
|
UTSW |
3 |
88,273,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6292:Paqr6
|
UTSW |
3 |
88,275,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Paqr6
|
UTSW |
3 |
88,273,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7023:Paqr6
|
UTSW |
3 |
88,273,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:Paqr6
|
UTSW |
3 |
88,273,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Paqr6
|
UTSW |
3 |
88,273,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Paqr6
|
UTSW |
3 |
88,273,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGTCAACATCTGGACTCAC -3'
(R):5'- CTTTCAGACACTGGGGATGC -3'
Sequencing Primer
(F):5'- AACATCTGGACTCACTTCCTG -3'
(R):5'- GAACCCACCGCGAGTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation