Incidental Mutation 'R6426:Paqr7'
| ID |
518319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paqr7
|
| Ensembl Gene |
ENSMUSG00000037348 |
| Gene Name |
progestin and adipoQ receptor family member VII |
| Synonyms |
mPR, 2310021M12Rik, PGLP, Mpra |
| MMRRC Submission |
044565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134224315-134237548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134234278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 45
(Y45C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081525]
[ENSMUST00000095074]
[ENSMUST00000105866]
[ENSMUST00000125330]
[ENSMUST00000134506]
[ENSMUST00000136171]
|
| AlphaFold |
Q80ZE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081525
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080240
Gene: ENSMUSG00000037348
AA Change: Y45C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
65 |
289 |
7.1e-52 |
PFAM |
|
transmembrane domain
|
314 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095074
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125932
Gene: ENSMUSG00000037348
AA Change: Y45C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
65 |
289 |
2.4e-45 |
PFAM |
|
transmembrane domain
|
314 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105866
|
| SMART Domains |
Protein: ENSMUSP00000101492
Gene: ENSMUSG00000078521
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIB
|
26 |
335 |
1.5e-134 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125330
AA Change: Y45C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116485
Gene: ENSMUSG00000037348
AA Change: Y45C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
65 |
147 |
3.4e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134506
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120959
Gene: ENSMUSG00000037348
AA Change: Y45C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
65 |
127 |
4.6e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136171
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122936
Gene: ENSMUSG00000037348
AA Change: Y45C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
65 |
237 |
1.5e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155449
|
| Meta Mutation Damage Score |
0.6957 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
T |
G |
6: 55,471,172 (GRCm39) |
L365R |
probably damaging |
Het |
| Adgre4 |
A |
G |
17: 56,109,196 (GRCm39) |
N401S |
probably benign |
Het |
| Adgrl3 |
A |
T |
5: 81,874,717 (GRCm39) |
S1073C |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,141,005 (GRCm39) |
P26S |
probably benign |
Het |
| Cst3 |
G |
T |
2: 148,713,917 (GRCm39) |
T129K |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,753 (GRCm39) |
M287T |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,645 (GRCm39) |
V611A |
probably damaging |
Het |
| Fam149a |
C |
A |
8: 45,834,611 (GRCm39) |
A63S |
probably benign |
Het |
| Fhip2a |
T |
G |
19: 57,371,610 (GRCm39) |
L574R |
probably damaging |
Het |
| Foxred2 |
C |
G |
15: 77,837,508 (GRCm39) |
A243P |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,436 (GRCm39) |
D307E |
probably damaging |
Het |
| Lca5 |
G |
A |
9: 83,277,707 (GRCm39) |
Q546* |
probably null |
Het |
| Mfsd4b1 |
T |
C |
10: 39,882,073 (GRCm39) |
T71A |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,769,631 (GRCm39) |
H18R |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,212 (GRCm39) |
V288A |
probably benign |
Het |
| Pcsk5 |
G |
T |
19: 17,595,093 (GRCm39) |
Q414K |
probably damaging |
Het |
| Ppp4r2 |
T |
C |
6: 100,829,558 (GRCm39) |
Y77H |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,003,262 (GRCm39) |
D292G |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,481,283 (GRCm39) |
R464H |
probably damaging |
Het |
| Rhoq |
G |
T |
17: 87,302,442 (GRCm39) |
R126L |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,701,029 (GRCm39) |
K162E |
probably benign |
Het |
| Sema3d |
G |
A |
5: 12,613,231 (GRCm39) |
G436E |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,038,814 (GRCm39) |
M823K |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,969,857 (GRCm39) |
E977D |
probably null |
Het |
| Tns2 |
A |
T |
15: 102,015,472 (GRCm39) |
M125L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,313 (GRCm39) |
K31812* |
probably null |
Het |
| Ube4b |
G |
A |
4: 149,510,453 (GRCm39) |
|
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,355,865 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,360,431 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,768,594 (GRCm39) |
S1035T |
probably damaging |
Het |
|
| Other mutations in Paqr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00824:Paqr7
|
APN |
4 |
134,234,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02418:Paqr7
|
APN |
4 |
134,234,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Paqr7
|
UTSW |
4 |
134,235,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Paqr7
|
UTSW |
4 |
134,234,409 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1781:Paqr7
|
UTSW |
4 |
134,234,592 (GRCm39) |
splice site |
probably null |
|
|
R1852:Paqr7
|
UTSW |
4 |
134,234,980 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4843:Paqr7
|
UTSW |
4 |
134,234,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Paqr7
|
UTSW |
4 |
134,235,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7337:Paqr7
|
UTSW |
4 |
134,234,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8103:Paqr7
|
UTSW |
4 |
134,234,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9299:Paqr7
|
UTSW |
4 |
134,234,311 (GRCm39) |
missense |
probably benign |
|
|
R9380:Paqr7
|
UTSW |
4 |
134,234,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9470:Paqr7
|
UTSW |
4 |
134,234,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCCAAACCTCAGGTAG -3'
(R):5'- ATGCCAGAACTCCGACTTGG -3'
Sequencing Primer
(F):5'- CACAGAGATTCTAACTTTGTCCTGAC -3'
(R):5'- GGTGAGCCACAGCACTGAAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation