Incidental Mutation 'R5922:Paqr6'
| ID |
461621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paqr6
|
| Ensembl Gene |
ENSMUSG00000041423 |
| Gene Name |
progestin and adipoQ receptor family member VI |
| Synonyms |
1500001B10Rik |
| MMRRC Submission |
043240-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5922 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88271891-88275848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 88273544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 154
(A154S)
|
| 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 benign
Transcript: ENSMUST00000147991
AA Change: A154S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423
AA Change: A154S
| 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: ENSMUST00000193224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149640
|
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
| Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
| Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
| Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
| Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
| Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
| Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
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 |
|
R2369:Paqr6
|
UTSW |
3 |
88,273,260 (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 |
|
|
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'- ACACCTTTAGCTCCATGTCG -3'
(R):5'- AAGGATAGCATACTGGCCAAC -3'
Sequencing Primer
(F):5'- TACTTCCTGGACTACGGGG -3'
(R):5'- TGGCCAACAGGAATGCCTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation