Incidental Mutation 'R5298:Or4c127'
ID |
405519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or4c127
|
Ensembl Gene |
ENSMUSG00000051313 |
Gene Name |
olfactory receptor family 4 subfamily C member 127 |
Synonyms |
GA_x6K02T2Q125-51434523-51435437, Olfr1262, MOR234-1 |
MMRRC Submission |
042881-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R5298 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
89832752-89833666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89832804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 18
(L18Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061701]
[ENSMUST00000111508]
[ENSMUST00000131072]
[ENSMUST00000213868]
|
AlphaFold |
Q8VGN2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061701
AA Change: L18Q
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000052387 Gene: ENSMUSG00000051313 AA Change: L18Q
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
30 |
297 |
1.2e-5 |
PFAM |
Pfam:7tm_1
|
36 |
282 |
9.9e-24 |
PFAM |
Pfam:7tm_4
|
134 |
275 |
1.3e-38 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111508
AA Change: L18Q
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107133 Gene: ENSMUSG00000051313 AA Change: L18Q
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
25 |
300 |
6.1e-43 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
30 |
297 |
1.2e-5 |
PFAM |
Pfam:7tm_1
|
36 |
282 |
7.1e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131072
AA Change: L18Q
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121666 Gene: ENSMUSG00000051313 AA Change: L18Q
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
30 |
171 |
1.7e-8 |
PFAM |
Pfam:7tm_1
|
36 |
238 |
3.2e-22 |
PFAM |
Pfam:7tm_4
|
134 |
240 |
5e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213868
AA Change: L18Q
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc97 |
A |
G |
7: 25,415,432 (GRCm39) |
V12A |
probably damaging |
Het |
Cdcp2 |
T |
C |
4: 106,964,182 (GRCm39) |
V344A |
probably benign |
Het |
Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
Clip4 |
A |
G |
17: 72,141,220 (GRCm39) |
N525D |
probably damaging |
Het |
Csde1 |
T |
A |
3: 102,954,525 (GRCm39) |
|
probably null |
Het |
D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
Parg |
C |
A |
14: 31,924,210 (GRCm39) |
A3E |
probably damaging |
Het |
Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
Slc23a1 |
A |
G |
18: 35,755,563 (GRCm39) |
|
probably null |
Het |
Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
Vmn1r193 |
A |
T |
13: 22,403,725 (GRCm39) |
F89Y |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,475,421 (GRCm39) |
N931D |
probably damaging |
Het |
|
Other mutations in Or4c127 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Or4c127
|
APN |
2 |
89,833,365 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL03303:Or4c127
|
APN |
2 |
89,832,810 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1216:Or4c127
|
UTSW |
2 |
89,832,822 (GRCm39) |
missense |
probably benign |
0.23 |
R1256:Or4c127
|
UTSW |
2 |
89,832,911 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1860:Or4c127
|
UTSW |
2 |
89,833,490 (GRCm39) |
missense |
probably benign |
0.26 |
R1864:Or4c127
|
UTSW |
2 |
89,832,825 (GRCm39) |
missense |
probably benign |
0.02 |
R1918:Or4c127
|
UTSW |
2 |
89,832,918 (GRCm39) |
missense |
probably benign |
0.12 |
R2192:Or4c127
|
UTSW |
2 |
89,832,774 (GRCm39) |
missense |
probably damaging |
0.99 |
R3024:Or4c127
|
UTSW |
2 |
89,833,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R4155:Or4c127
|
UTSW |
2 |
89,833,004 (GRCm39) |
missense |
probably benign |
0.35 |
R4956:Or4c127
|
UTSW |
2 |
89,833,187 (GRCm39) |
missense |
probably benign |
0.33 |
R5804:Or4c127
|
UTSW |
2 |
89,833,332 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6766:Or4c127
|
UTSW |
2 |
89,832,876 (GRCm39) |
missense |
probably benign |
0.06 |
R7674:Or4c127
|
UTSW |
2 |
89,833,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R8535:Or4c127
|
UTSW |
2 |
89,833,511 (GRCm39) |
missense |
probably benign |
0.19 |
Z1176:Or4c127
|
UTSW |
2 |
89,833,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCACCTCAGGGACCAGAAG -3'
(R):5'- AGCCATTGAAGGATATGGTGC -3'
Sequencing Primer
(F):5'- TCACCTCAGGGACCAGAAGTAATAAG -3'
(R):5'- CCATTGAAGGATATGGTGCTCTTCTC -3'
|
Posted On |
2016-07-22 |