Incidental Mutation 'R4557:Or6c69'
| ID |
341913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c69
|
| Ensembl Gene |
ENSMUSG00000063715 |
| Gene Name |
olfactory receptor family 6 subfamily C member 69 |
| Synonyms |
MOR113-1, Olfr816, GA_x6K02T2PULF-11590830-11589892 |
| MMRRC Submission |
041784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4557 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129747207-129748145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129747398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 250
(Y250H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071605]
[ENSMUST00000213438]
|
| AlphaFold |
Q8VFU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071605
AA Change: Y250H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071534
Gene: ENSMUSG00000063715
AA Change: Y250H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
6.9e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.2e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213438
AA Change: Y250H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213618
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (49/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
T |
C |
9: 103,960,038 (GRCm39) |
F219L |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,848,346 (GRCm39) |
Y659H |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Apba1 |
T |
A |
19: 23,894,956 (GRCm39) |
I464N |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,165,914 (GRCm39) |
T1057A |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,004 (GRCm39) |
E449G |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,463,384 (GRCm39) |
I1453L |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,175,080 (GRCm39) |
E531V |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,113 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
C |
A |
17: 70,823,684 (GRCm39) |
T223K |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,709,290 (GRCm39) |
V24M |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Gm10100 |
G |
A |
10: 77,562,365 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,291 (GRCm39) |
V622A |
probably damaging |
Het |
| Gpr149 |
A |
C |
3: 62,511,918 (GRCm39) |
M27R |
probably benign |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,818 (GRCm39) |
N101D |
probably benign |
Het |
| Igkv4-78 |
A |
G |
6: 69,036,755 (GRCm39) |
S93P |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,505,313 (GRCm39) |
W3332R |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,141,028 (GRCm39) |
I459T |
probably benign |
Het |
| Mdn1 |
G |
T |
4: 32,754,437 (GRCm39) |
C4646F |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,182,993 (GRCm39) |
K351E |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,647 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
A |
17: 38,263,142 (GRCm39) |
A258S |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,425 (GRCm39) |
V3E |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,838,842 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,284 (GRCm39) |
M48L |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,976 (GRCm39) |
E923G |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,414,886 (GRCm39) |
S2075R |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,011,553 (GRCm39) |
C114R |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,191,154 (GRCm39) |
R945S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,028,561 (GRCm39) |
N517S |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,258,079 (GRCm39) |
L443R |
possibly damaging |
Het |
| Smok4a |
T |
C |
17: 13,746,643 (GRCm39) |
|
noncoding transcript |
Het |
| Snx18 |
A |
G |
13: 113,754,364 (GRCm39) |
S190P |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ttc27 |
T |
G |
17: 75,136,544 (GRCm39) |
S584A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,779,359 (GRCm39) |
Y1174N |
probably damaging |
Het |
| Zbtb44 |
T |
G |
9: 30,975,544 (GRCm39) |
S391R |
probably damaging |
Het |
|
| Other mutations in Or6c69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Or6c69
|
APN |
10 |
129,748,114 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01650:Or6c69
|
APN |
10 |
129,747,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01766:Or6c69
|
APN |
10 |
129,747,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Or6c69
|
APN |
10 |
129,747,200 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02824:Or6c69
|
APN |
10 |
129,747,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Or6c69
|
UTSW |
10 |
129,747,785 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0688:Or6c69
|
UTSW |
10 |
129,747,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1589:Or6c69
|
UTSW |
10 |
129,747,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1744:Or6c69
|
UTSW |
10 |
129,747,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Or6c69
|
UTSW |
10 |
129,748,036 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3763:Or6c69
|
UTSW |
10 |
129,747,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Or6c69
|
UTSW |
10 |
129,747,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3971:Or6c69
|
UTSW |
10 |
129,747,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5538:Or6c69
|
UTSW |
10 |
129,747,871 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6127:Or6c69
|
UTSW |
10 |
129,747,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6227:Or6c69
|
UTSW |
10 |
129,747,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Or6c69
|
UTSW |
10 |
129,747,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6707:Or6c69
|
UTSW |
10 |
129,747,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7257:Or6c69
|
UTSW |
10 |
129,748,156 (GRCm39) |
start gained |
probably benign |
|
|
R7258:Or6c69
|
UTSW |
10 |
129,748,156 (GRCm39) |
start gained |
probably benign |
|
|
R7260:Or6c69
|
UTSW |
10 |
129,748,156 (GRCm39) |
start gained |
probably benign |
|
|
R7409:Or6c69
|
UTSW |
10 |
129,748,120 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7539:Or6c69
|
UTSW |
10 |
129,747,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Or6c69
|
UTSW |
10 |
129,747,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Or6c69
|
UTSW |
10 |
129,747,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8879:Or6c69
|
UTSW |
10 |
129,747,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9533:Or6c69
|
UTSW |
10 |
129,747,404 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9717:Or6c69
|
UTSW |
10 |
129,748,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Or6c69
|
UTSW |
10 |
129,747,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Or6c69
|
UTSW |
10 |
129,747,826 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGATGCAATCCTGTGTACTG -3'
(R):5'- TACTGTGACACAACTCCACTTC -3'
Sequencing Primer
(F):5'- CCTGTGTACTGTAGTAATGAATGC -3'
(R):5'- TTCAGATTTCTTGCACAGACACACAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation