Incidental Mutation 'R4450:Olfr954'
| ID |
328932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfr954
|
| Ensembl Gene |
ENSMUSG00000094745 |
| Gene Name |
olfactory receptor 954 |
| Synonyms |
GA_x6K02T2PVTD-33158015-33158950, MOR171-53, MOR171-42 |
| MMRRC Submission |
041711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4450 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
39456701-39464625 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 39462032 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 200
(M200I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080329]
[ENSMUST00000214818]
|
| AlphaFold |
Q9EQB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080329
AA Change: M200I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079205
Gene: ENSMUSG00000094745
AA Change: M200I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
2.6e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
264 |
3e-5 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214818
AA Change: M197I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219910
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,926,129 (GRCm38) |
|
noncoding transcript |
Het |
| Acsl6 |
A |
G |
11: 54,328,403 (GRCm38) |
D278G |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,573,119 (GRCm38) |
R196Q |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,742,760 (GRCm38) |
F2450L |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,068,079 (GRCm38) |
A469E |
probably benign |
Het |
| Angel1 |
A |
T |
12: 86,721,924 (GRCm38) |
Y262N |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,437,097 (GRCm38) |
E272G |
probably damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,906,768 (GRCm38) |
E228G |
possibly damaging |
Het |
| Brca2 |
T |
G |
5: 150,536,053 (GRCm38) |
D264E |
probably damaging |
Het |
| Cdca4 |
T |
C |
12: 112,821,658 (GRCm38) |
N150S |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,225,808 (GRCm38) |
S510G |
probably damaging |
Het |
| Cldn12 |
T |
C |
5: 5,508,398 (GRCm38) |
T10A |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,502,953 (GRCm38) |
G631D |
possibly damaging |
Het |
| Col19a1 |
T |
A |
1: 24,322,035 (GRCm38) |
T625S |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,904,521 (GRCm38) |
G1635D |
unknown |
Het |
| Dcp1b |
A |
G |
6: 119,206,476 (GRCm38) |
T175A |
probably benign |
Het |
| Eln |
C |
T |
5: 134,725,781 (GRCm38) |
|
probably benign |
Het |
| Galnt2 |
A |
G |
8: 124,295,377 (GRCm38) |
D14G |
probably benign |
Het |
| Gm9894 |
T |
A |
13: 67,765,080 (GRCm38) |
|
noncoding transcript |
Het |
| Herc2 |
T |
C |
7: 56,227,892 (GRCm38) |
L4569P |
probably damaging |
Het |
| Hrasls |
C |
T |
16: 29,228,224 (GRCm38) |
T165M |
possibly damaging |
Het |
| Iqcm |
T |
C |
8: 75,629,766 (GRCm38) |
S176P |
probably damaging |
Het |
| Klhl42 |
G |
A |
6: 147,091,671 (GRCm38) |
G47D |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,981,062 (GRCm38) |
Y147H |
probably damaging |
Het |
| Lzts2 |
A |
T |
19: 45,023,593 (GRCm38) |
K154* |
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,603,982 (GRCm38) |
|
probably null |
Het |
| Mlc1 |
A |
G |
15: 88,963,490 (GRCm38) |
F285S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,167,176 (GRCm38) |
M789K |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,267,774 (GRCm38) |
S319T |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 116,051,256 (GRCm38) |
Y702* |
probably null |
Het |
| Olfr917 |
A |
T |
9: 38,665,754 (GRCm38) |
V30E |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,694,906 (GRCm38) |
T640S |
probably benign |
Het |
| Rangrf |
A |
T |
11: 68,975,184 (GRCm38) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,611,137 (GRCm38) |
|
probably benign |
Het |
| Ros1 |
C |
T |
10: 52,077,942 (GRCm38) |
G1867D |
probably damaging |
Het |
| Slc11a1 |
C |
A |
1: 74,385,535 (GRCm38) |
|
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,604,536 (GRCm38) |
|
probably null |
Het |
| Speer3 |
C |
G |
5: 13,796,380 (GRCm38) |
A238G |
possibly damaging |
Het |
| Syt6 |
A |
G |
3: 103,585,645 (GRCm38) |
H156R |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,344,065 (GRCm38) |
|
probably null |
Het |
| Trim58 |
T |
C |
11: 58,651,365 (GRCm38) |
W384R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 47,868,667 (GRCm38) |
Y471H |
unknown |
Het |
|
| Other mutations in Olfr954 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02704:Olfr954
|
APN |
9 |
39,462,283 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02793:Olfr954
|
APN |
9 |
39,461,506 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02964:Olfr954
|
APN |
9 |
39,461,781 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02979:Olfr954
|
APN |
9 |
39,461,523 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0041:Olfr954
|
UTSW |
9 |
39,461,476 (GRCm38) |
missense |
probably benign |
0.34 |
|
R0153:Olfr954
|
UTSW |
9 |
39,461,671 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0269:Olfr954
|
UTSW |
9 |
39,461,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0426:Olfr954
|
UTSW |
9 |
39,461,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0731:Olfr954
|
UTSW |
9 |
39,461,532 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1800:Olfr954
|
UTSW |
9 |
39,462,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2340:Olfr954
|
UTSW |
9 |
39,461,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2901:Olfr954
|
UTSW |
9 |
39,461,938 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2912:Olfr954
|
UTSW |
9 |
39,462,216 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2939:Olfr954
|
UTSW |
9 |
39,461,930 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2940:Olfr954
|
UTSW |
9 |
39,461,930 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3081:Olfr954
|
UTSW |
9 |
39,461,930 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3765:Olfr954
|
UTSW |
9 |
39,461,624 (GRCm38) |
nonsense |
probably null |
|
|
R4515:Olfr954
|
UTSW |
9 |
39,462,231 (GRCm38) |
nonsense |
probably null |
|
|
R4786:Olfr954
|
UTSW |
9 |
39,461,841 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4961:Olfr954
|
UTSW |
9 |
39,461,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5219:Olfr954
|
UTSW |
9 |
39,462,267 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5602:Olfr954
|
UTSW |
9 |
39,462,030 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5887:Olfr954
|
UTSW |
9 |
39,461,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5950:Olfr954
|
UTSW |
9 |
39,462,337 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6943:Olfr954
|
UTSW |
9 |
39,461,863 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7567:Olfr954
|
UTSW |
9 |
39,461,877 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8817:Olfr954
|
UTSW |
9 |
39,462,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9251:Olfr954
|
UTSW |
9 |
39,462,372 (GRCm38) |
missense |
probably benign |
|
|
X0060:Olfr954
|
UTSW |
9 |
39,462,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Olfr954
|
UTSW |
9 |
39,461,701 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATCTGTAACCCCTTGG -3'
(R):5'- CACAAATGCTGTAGAACCATAGAAG -3'
Sequencing Primer
(F):5'- ACCCCTTGGTTTACAATATAGCCATG -3'
(R):5'- TGCTGTAGAACCATAGAAGACAGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation