Incidental Mutation 'R3862:Or52h7'
| ID |
276396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52h7
|
| Ensembl Gene |
ENSMUSG00000073927 |
| Gene Name |
olfactory receptor family 52 subfamily H member 7 |
| Synonyms |
MOR31-8, Olfr652, GA_x6K02T2PBJ9-7191524-7192471 |
| MMRRC Submission |
040903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104213359-104214419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104214145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 239
(R239H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098175]
[ENSMUST00000215410]
[ENSMUST00000216131]
[ENSMUST00000219111]
|
| AlphaFold |
B9EHE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098175
AA Change: R239H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000095777
Gene: ENSMUSG00000073927
AA Change: R239H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
36 |
315 |
2.6e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
40 |
312 |
6.9e-9 |
PFAM |
|
Pfam:7tm_1
|
46 |
297 |
4.7e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104877
AA Change: R236H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
AA Change: R236H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
37 |
309 |
1.1e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
3.6e-28 |
PFAM |
|
Pfam:7tm_4
|
141 |
287 |
1.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215410
AA Change: R239H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216131
AA Change: R239H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219111
AA Change: R239H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
G |
A |
10: 80,143,393 (GRCm39) |
G498R |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,939,547 (GRCm39) |
F134I |
possibly damaging |
Het |
| Bub1 |
A |
G |
2: 127,656,676 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
T |
6: 18,434,905 (GRCm39) |
V318M |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,027 (GRCm39) |
Q265R |
probably benign |
Het |
| Eri1 |
A |
G |
8: 35,958,448 (GRCm39) |
V61A |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fkbp9 |
A |
G |
6: 56,845,890 (GRCm39) |
T409A |
probably benign |
Het |
| Gtpbp4 |
A |
G |
13: 9,040,834 (GRCm39) |
V97A |
probably damaging |
Het |
| Hapln1 |
C |
T |
13: 89,753,418 (GRCm39) |
Q195* |
probably null |
Het |
| Helt |
G |
T |
8: 46,745,315 (GRCm39) |
N189K |
probably benign |
Het |
| Hint2 |
A |
G |
4: 43,654,771 (GRCm39) |
V91A |
probably damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,146,323 (GRCm39) |
E1803G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
| Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
| Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
| Naif1 |
A |
G |
2: 32,342,637 (GRCm39) |
R63G |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,435,064 (GRCm39) |
I126T |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or8g53 |
T |
A |
9: 39,683,920 (GRCm39) |
M59L |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,562,680 (GRCm39) |
R550* |
probably null |
Het |
| Scgb2b3 |
C |
T |
7: 31,061,430 (GRCm39) |
|
probably null |
Het |
| Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
| Slc15a1 |
C |
T |
14: 121,722,269 (GRCm39) |
V211I |
probably benign |
Het |
| Slc25a21 |
G |
T |
12: 56,764,920 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
A |
2: 127,075,019 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,722 (GRCm39) |
T437A |
probably damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,092,329 (GRCm39) |
Q479K |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,826,838 (GRCm39) |
V935D |
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,162,313 (GRCm39) |
C115Y |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,020,732 (GRCm39) |
D37G |
probably benign |
Het |
| Zfand4 |
A |
T |
6: 116,270,776 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or52h7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01311:Or52h7
|
APN |
7 |
104,214,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Or52h7
|
APN |
7 |
104,214,220 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01712:Or52h7
|
APN |
7 |
104,214,226 (GRCm39) |
missense |
probably benign |
|
|
IGL02211:Or52h7
|
APN |
7 |
104,214,333 (GRCm39) |
nonsense |
probably null |
|
|
IGL03328:Or52h7
|
APN |
7 |
104,213,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K7894:Or52h7
|
UTSW |
7 |
104,213,739 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0138:Or52h7
|
UTSW |
7 |
104,214,210 (GRCm39) |
missense |
probably benign |
|
|
R0632:Or52h7
|
UTSW |
7 |
104,213,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1457:Or52h7
|
UTSW |
7 |
104,214,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:Or52h7
|
UTSW |
7 |
104,214,038 (GRCm39) |
nonsense |
probably null |
|
|
R1879:Or52h7
|
UTSW |
7 |
104,214,118 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2188:Or52h7
|
UTSW |
7 |
104,213,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2323:Or52h7
|
UTSW |
7 |
104,213,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3908:Or52h7
|
UTSW |
7 |
104,213,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4942:Or52h7
|
UTSW |
7 |
104,214,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5443:Or52h7
|
UTSW |
7 |
104,213,583 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5572:Or52h7
|
UTSW |
7 |
104,214,201 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6045:Or52h7
|
UTSW |
7 |
104,213,974 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6973:Or52h7
|
UTSW |
7 |
104,214,183 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7147:Or52h7
|
UTSW |
7 |
104,213,273 (GRCm39) |
start gained |
probably benign |
|
|
R7349:Or52h7
|
UTSW |
7 |
104,213,857 (GRCm39) |
missense |
probably benign |
|
|
R7968:Or52h7
|
UTSW |
7 |
104,213,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8031:Or52h7
|
UTSW |
7 |
104,214,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8129:Or52h7
|
UTSW |
7 |
104,213,584 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8198:Or52h7
|
UTSW |
7 |
104,214,140 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8296:Or52h7
|
UTSW |
7 |
104,213,593 (GRCm39) |
missense |
probably benign |
|
|
R8345:Or52h7
|
UTSW |
7 |
104,213,431 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
|
R8475:Or52h7
|
UTSW |
7 |
104,214,066 (GRCm39) |
missense |
probably benign |
|
|
R8875:Or52h7
|
UTSW |
7 |
104,213,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8881:Or52h7
|
UTSW |
7 |
104,213,619 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8927:Or52h7
|
UTSW |
7 |
104,214,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Or52h7
|
UTSW |
7 |
104,214,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Or52h7
|
UTSW |
7 |
104,213,457 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCTTGCTAAAACGACTGCC -3'
(R):5'- CCCATAGATGACTGGGTTGATGG -3'
Sequencing Primer
(F):5'- AAAACGACTGCCTTTCTGCCG -3'
(R):5'- ATGACTGGGTTGATGGCAGGAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation