Incidental Mutation 'R9505:Nr6a1'
| ID |
717754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr6a1
|
| Ensembl Gene |
ENSMUSG00000063972 |
| Gene Name |
nuclear receptor subfamily 6, group A, member 1 |
| Synonyms |
1700113M01Rik, NCNF, Gcnf |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
38613381-38816473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38630485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 259
(R259Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076275]
[ENSMUST00000112877]
[ENSMUST00000142113]
[ENSMUST00000142130]
[ENSMUST00000168098]
|
| AlphaFold |
Q64249 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076275
AA Change: R259Q
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075624
Gene: ENSMUSG00000063972
AA Change: R259Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
ZnF_C4
|
72 |
143 |
9.35e-36 |
SMART |
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
HOLI
|
304 |
466 |
3.19e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112877
AA Change: R259Q
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108498
Gene: ENSMUSG00000063972
AA Change: R259Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
ZnF_C4
|
72 |
143 |
9.35e-36 |
SMART |
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
HOLI
|
304 |
466 |
3.19e-29 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142113
AA Change: R202Q
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121234
Gene: ENSMUSG00000063972
AA Change: R202Q
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
15 |
86 |
9.35e-36 |
SMART |
|
Blast:HOLI
|
105 |
235 |
6e-67 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142130
|
| SMART Domains |
Protein: ENSMUSP00000115164
Gene: ENSMUSG00000063972
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
ZnF_C4
|
57 |
128 |
9.35e-36 |
SMART |
|
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168098
AA Change: R202Q
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126009
Gene: ENSMUSG00000063972
AA Change: R202Q
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
15 |
86 |
9.35e-36 |
SMART |
|
low complexity region
|
145 |
159 |
N/A |
INTRINSIC |
|
HOLI
|
247 |
409 |
3.19e-29 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for targeted null mutations have cardiovascular abnormalities, defective trunk development, impaired somite formation, failure to turn, open neural tube and hindgut, protrusion of the tailbud outside the yolk sac and die by embryonic day 10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,185,782 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
C |
7: 66,774,683 (GRCm39) |
N961T |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,855,751 (GRCm39) |
T373I |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,385,522 (GRCm39) |
E85A |
probably benign |
Het |
| Brca1 |
G |
T |
11: 101,403,592 (GRCm39) |
H1437N |
probably benign |
Het |
| Camk2n1 |
T |
C |
4: 138,182,567 (GRCm39) |
I24T |
possibly damaging |
Het |
| Ces2f |
T |
A |
8: 105,676,669 (GRCm39) |
M121K |
probably benign |
Het |
| Cfap299 |
A |
G |
5: 98,477,213 (GRCm39) |
M1V |
probably null |
Het |
| CN725425 |
T |
A |
15: 91,124,867 (GRCm39) |
Y136N |
possibly damaging |
Het |
| Ctla2a |
T |
A |
13: 61,084,342 (GRCm39) |
M2L |
unknown |
Het |
| Cyp3a57 |
A |
T |
5: 145,286,139 (GRCm39) |
Y25F |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,697,297 (GRCm39) |
V87M |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,644,912 (GRCm39) |
I1123N |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,841,909 (GRCm39) |
K615* |
probably null |
Het |
| Fkbp10 |
G |
T |
11: 100,306,826 (GRCm39) |
E73* |
probably null |
Het |
| Flnb |
C |
A |
14: 7,904,665 (GRCm38) |
H1023N |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,613,026 (GRCm39) |
Q312H |
|
Het |
| Garre1 |
A |
T |
7: 33,984,371 (GRCm39) |
L84Q |
probably damaging |
Het |
| Htr1d |
A |
T |
4: 136,170,889 (GRCm39) |
I373F |
probably benign |
Het |
| Inhba |
G |
A |
13: 16,201,356 (GRCm39) |
R306H |
probably damaging |
Het |
| Inka1 |
T |
A |
9: 107,862,092 (GRCm39) |
K75* |
probably null |
Het |
| Iqcg |
A |
T |
16: 32,861,247 (GRCm39) |
D156E |
probably benign |
Het |
| Ireb2 |
C |
A |
9: 54,813,921 (GRCm39) |
T798K |
probably damaging |
Het |
| Klk1b8 |
G |
A |
7: 43,451,605 (GRCm39) |
A199T |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,711,775 (GRCm39) |
T182A |
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,900,638 (GRCm39) |
R228L |
probably damaging |
Het |
| Lyrm1 |
A |
G |
7: 119,509,090 (GRCm39) |
K22E |
possibly damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,339,897 (GRCm39) |
D967G |
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,687,929 (GRCm39) |
N20D |
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,167,446 (GRCm39) |
I48M |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,670,698 (GRCm39) |
V276F |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,812 (GRCm39) |
I92N |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,664 (GRCm39) |
I348K |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,957,134 (GRCm39) |
A1078T |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,487,049 (GRCm39) |
V560A |
probably benign |
Het |
| Slc27a4 |
A |
G |
2: 29,701,608 (GRCm39) |
I409V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,809,017 (GRCm39) |
|
probably null |
Het |
| Spon1 |
A |
G |
7: 113,632,311 (GRCm39) |
T545A |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,877,722 (GRCm39) |
S772P |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,645,304 (GRCm39) |
S719T |
probably benign |
Het |
| Syne1 |
A |
G |
10: 4,980,394 (GRCm39) |
V864A |
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,180,579 (GRCm39) |
S836G |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,439,577 (GRCm39) |
E298* |
probably null |
Het |
| Tmem52 |
A |
G |
4: 155,554,615 (GRCm39) |
T114A |
probably damaging |
Het |
| Trim36 |
C |
A |
18: 46,329,281 (GRCm39) |
C53F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,811 (GRCm39) |
K6871R |
unknown |
Het |
| Ttn |
C |
A |
2: 76,715,468 (GRCm39) |
|
probably null |
Het |
| Ube2d1 |
T |
C |
10: 71,098,094 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,838,824 (GRCm39) |
T676A |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,878,838 (GRCm39) |
D1029E |
unknown |
Het |
| Vps13a |
A |
T |
19: 16,719,908 (GRCm39) |
Y417N |
possibly damaging |
Het |
| Zfp729a |
C |
T |
13: 67,767,673 (GRCm39) |
C852Y |
probably damaging |
Het |
|
| Other mutations in Nr6a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01566:Nr6a1
|
APN |
2 |
38,617,901 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02245:Nr6a1
|
APN |
2 |
38,630,565 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03195:Nr6a1
|
APN |
2 |
38,632,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Nr6a1
|
UTSW |
2 |
38,629,032 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0909:Nr6a1
|
UTSW |
2 |
38,775,218 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1737:Nr6a1
|
UTSW |
2 |
38,628,955 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5918:Nr6a1
|
UTSW |
2 |
38,629,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Nr6a1
|
UTSW |
2 |
38,619,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6311:Nr6a1
|
UTSW |
2 |
38,629,083 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6861:Nr6a1
|
UTSW |
2 |
38,630,597 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6978:Nr6a1
|
UTSW |
2 |
38,762,631 (GRCm39) |
missense |
probably benign |
|
|
R7566:Nr6a1
|
UTSW |
2 |
38,621,085 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8177:Nr6a1
|
UTSW |
2 |
38,619,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8441:Nr6a1
|
UTSW |
2 |
38,632,888 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8548:Nr6a1
|
UTSW |
2 |
38,619,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8548:Nr6a1
|
UTSW |
2 |
38,619,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776:Nr6a1
|
UTSW |
2 |
38,650,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Nr6a1
|
UTSW |
2 |
38,650,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Nr6a1
|
UTSW |
2 |
38,650,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8982:Nr6a1
|
UTSW |
2 |
38,762,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9189:Nr6a1
|
UTSW |
2 |
38,816,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9284:Nr6a1
|
UTSW |
2 |
38,638,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGGATACAACCGATGC -3'
(R):5'- TTCACAGACTTCATGACCAGAGAAC -3'
Sequencing Primer
(F):5'- TACAACCGATGCGTGGTAG -3'
(R):5'- TGAGCACGTATTCAACCTGCAATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation