Incidental Mutation 'S24628:Or5m9'
| ID |
385646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5m9
|
| Ensembl Gene |
ENSMUSG00000102091 |
| Gene Name |
olfactory receptor family 5 subfamily M member 9 |
| Synonyms |
Olfr1533-ps1, MOR245-14P, MOR227-8P, Olfr1034, GA_x6K02T2Q125-47521463-47522395, MOR227-8P |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
S24628 ()
of strain
waterfowl
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85876788-85877810 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85877399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 191
(H191L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079298]
[ENSMUST00000213496]
[ENSMUST00000213865]
[ENSMUST00000214546]
[ENSMUST00000215682]
[ENSMUST00000218397]
|
| AlphaFold |
A0A1L1ST14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079298
AA Change: H191L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078279
Gene: ENSMUSG00000042796
AA Change: H191L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.3e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
9.9e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213364
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213496
AA Change: H191L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213865
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218397
|
| Meta Mutation Damage Score |
0.2598 |
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
G |
A |
17: 56,159,288 (GRCm39) |
V658I |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,122,944 (GRCm39) |
Y249H |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Homo |
| Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
| Gpr183 |
C |
A |
14: 122,191,888 (GRCm39) |
C211F |
probably damaging |
Homo |
| Lcp1 |
A |
T |
14: 75,464,446 (GRCm39) |
I556F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,904,788 (GRCm39) |
P513S |
probably benign |
Het |
| Letm1 |
G |
A |
5: 33,904,790 (GRCm39) |
P512L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,483,294 (GRCm39) |
V283A |
possibly damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,782 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm39) |
A120V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,419 (GRCm39) |
Y609C |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,318 (GRCm39) |
H104Y |
probably benign |
Homo |
| Rnf213 |
A |
T |
11: 119,305,295 (GRCm39) |
I509F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,884,042 (GRCm39) |
S213G |
probably damaging |
Homo |
| Spint1 |
A |
G |
2: 119,076,096 (GRCm39) |
T231A |
probably damaging |
Het |
| Tbcel |
C |
A |
9: 42,355,796 (GRCm39) |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,900,235 (GRCm39) |
S573A |
probably benign |
Het |
| Tmem43 |
C |
A |
6: 91,459,300 (GRCm39) |
P257Q |
probably benign |
Homo |
| Tmprss13 |
A |
G |
9: 45,248,430 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,936,249 (GRCm39) |
G229D |
probably damaging |
Homo |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,478,006 (GRCm39) |
V215D |
probably damaging |
Homo |
| Vmn1r22 |
G |
T |
6: 57,877,317 (GRCm39) |
T220K |
probably benign |
Homo |
| Vmn2r116 |
G |
A |
17: 23,606,253 (GRCm39) |
M388I |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,809,892 (GRCm39) |
M1V |
probably null |
Homo |
| Zfp282 |
A |
G |
6: 47,874,815 (GRCm39) |
D340G |
probably damaging |
Homo |
| Zfp282 |
T |
A |
6: 47,881,987 (GRCm39) |
I558N |
possibly damaging |
Homo |
|
| Other mutations in Or5m9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Or5m9
|
APN |
2 |
85,876,996 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01066:Or5m9
|
APN |
2 |
85,877,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01326:Or5m9
|
APN |
2 |
85,877,627 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02862:Or5m9
|
APN |
2 |
85,877,648 (GRCm39) |
missense |
probably benign |
0.07 |
|
ANU74:Or5m9
|
UTSW |
2 |
85,877,655 (GRCm39) |
nonsense |
probably null |
|
|
PIT4651001:Or5m9
|
UTSW |
2 |
85,876,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Or5m9
|
UTSW |
2 |
85,877,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0492:Or5m9
|
UTSW |
2 |
85,877,278 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0492:Or5m9
|
UTSW |
2 |
85,876,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0517:Or5m9
|
UTSW |
2 |
85,877,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0519:Or5m9
|
UTSW |
2 |
85,877,411 (GRCm39) |
missense |
probably benign |
|
|
R0619:Or5m9
|
UTSW |
2 |
85,877,655 (GRCm39) |
nonsense |
probably null |
|
|
R1015:Or5m9
|
UTSW |
2 |
85,877,426 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1592:Or5m9
|
UTSW |
2 |
85,877,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1598:Or5m9
|
UTSW |
2 |
85,877,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2062:Or5m9
|
UTSW |
2 |
85,877,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Or5m9
|
UTSW |
2 |
85,877,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5757:Or5m9
|
UTSW |
2 |
85,876,910 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5991:Or5m9
|
UTSW |
2 |
85,877,254 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6037:Or5m9
|
UTSW |
2 |
85,876,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6037:Or5m9
|
UTSW |
2 |
85,876,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6760:Or5m9
|
UTSW |
2 |
85,877,358 (GRCm39) |
nonsense |
probably null |
|
|
R6852:Or5m9
|
UTSW |
2 |
85,876,948 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9686:Or5m9
|
UTSW |
2 |
85,877,335 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGGCCTTTGATCGCTAC -3'
(R):5'- TGGATACAGCTGTTAAGTGGGATC -3'
Sequencing Primer
(F):5'- CCCTTTGTTGTACAGCAGCAAGATG -3'
(R):5'- GATCCACAGGTAGAGAATGCCTTTC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation