Incidental Mutation 'R1245:Nmnat2'
ID |
152111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nmnat2
|
Ensembl Gene |
ENSMUSG00000042751 |
Gene Name |
nicotinamide nucleotide adenylyltransferase 2 |
Synonyms |
D030041I09Rik, PNAT1 |
MMRRC Submission |
039312-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1245 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
152830744-152995007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152987949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 238
(D238G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043313]
[ENSMUST00000186368]
|
AlphaFold |
Q8BNJ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043313
AA Change: D238G
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000041110 Gene: ENSMUSG00000042751 AA Change: D238G
Domain | Start | End | E-Value | Type |
Pfam:CTP_transf_like
|
12 |
276 |
2e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186368
AA Change: D238G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000140585 Gene: ENSMUSG00000042751 AA Change: D238G
Domain | Start | End | E-Value | Type |
Pfam:CTP_transf_2
|
12 |
275 |
2e-32 |
PFAM |
|
Meta Mutation Damage Score |
0.0655 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
Validation Efficiency |
98% (41/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene trap or transposon inserted allele exhibit perinatal lethality, distended bladders, atelectasis and loss of axon integrity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
T |
A |
11: 7,119,410 (GRCm39) |
|
probably benign |
Het |
Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
Cblb |
C |
A |
16: 51,867,550 (GRCm39) |
|
probably benign |
Het |
Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
Col6a6 |
G |
A |
9: 105,626,109 (GRCm39) |
R1515C |
possibly damaging |
Het |
Csf1r |
C |
A |
18: 61,247,884 (GRCm39) |
D317E |
probably benign |
Het |
Dlg2 |
T |
C |
7: 92,091,803 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
G |
A |
10: 24,660,851 (GRCm39) |
|
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm5828 |
A |
T |
1: 16,839,353 (GRCm39) |
|
noncoding transcript |
Het |
Gpr137c |
T |
C |
14: 45,516,522 (GRCm39) |
|
probably benign |
Het |
Ibtk |
A |
G |
9: 85,602,795 (GRCm39) |
|
probably null |
Het |
Kctd7 |
A |
G |
5: 130,177,058 (GRCm39) |
H96R |
possibly damaging |
Het |
Lmcd1 |
T |
A |
6: 112,292,673 (GRCm39) |
V175E |
probably benign |
Het |
Lrfn2 |
A |
T |
17: 49,403,277 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
C |
T |
17: 75,634,189 (GRCm39) |
|
probably benign |
Het |
Myc |
A |
G |
15: 61,859,746 (GRCm39) |
I140V |
probably damaging |
Het |
Nckap1l |
A |
G |
15: 103,364,352 (GRCm39) |
E100G |
probably damaging |
Het |
Ncs1 |
A |
G |
2: 31,174,705 (GRCm39) |
N143S |
probably benign |
Het |
Or10ag57 |
T |
A |
2: 87,218,553 (GRCm39) |
V168E |
probably benign |
Het |
Ppp2r3d |
G |
A |
9: 101,071,593 (GRCm39) |
T675I |
probably damaging |
Het |
Psma2 |
A |
G |
13: 14,787,876 (GRCm39) |
Y6C |
probably damaging |
Het |
Rspo4 |
G |
A |
2: 151,709,846 (GRCm39) |
E84K |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,965,457 (GRCm39) |
V1015I |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,974,436 (GRCm39) |
D632G |
possibly damaging |
Het |
Sppl2a |
A |
T |
2: 126,755,441 (GRCm39) |
|
probably benign |
Het |
Svep1 |
A |
G |
4: 58,066,427 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,776,044 (GRCm39) |
K1666M |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,937,206 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
G |
1: 66,594,254 (GRCm39) |
D1211G |
possibly damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,822,228 (GRCm39) |
Q302R |
probably benign |
Het |
Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
Wnk1 |
C |
T |
6: 119,925,418 (GRCm39) |
V1847I |
probably benign |
Het |
Zfp653 |
A |
T |
9: 21,967,718 (GRCm39) |
I529N |
probably damaging |
Het |
Zfp948 |
T |
C |
17: 21,807,104 (GRCm39) |
S99P |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,550,508 (GRCm39) |
|
probably benign |
Het |
Zscan29 |
T |
C |
2: 120,996,984 (GRCm39) |
T246A |
probably damaging |
Het |
|
Other mutations in Nmnat2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Nmnat2
|
APN |
1 |
152,969,863 (GRCm39) |
splice site |
probably null |
|
IGL01447:Nmnat2
|
APN |
1 |
152,988,189 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01686:Nmnat2
|
APN |
1 |
152,952,743 (GRCm39) |
splice site |
probably benign |
|
IGL01916:Nmnat2
|
APN |
1 |
152,969,792 (GRCm39) |
missense |
probably damaging |
0.99 |
R0309:Nmnat2
|
UTSW |
1 |
152,952,747 (GRCm39) |
splice site |
probably benign |
|
R1475:Nmnat2
|
UTSW |
1 |
152,950,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1780:Nmnat2
|
UTSW |
1 |
152,988,186 (GRCm39) |
nonsense |
probably null |
|
R2860:Nmnat2
|
UTSW |
1 |
152,988,171 (GRCm39) |
missense |
probably benign |
|
R2861:Nmnat2
|
UTSW |
1 |
152,988,171 (GRCm39) |
missense |
probably benign |
|
R2862:Nmnat2
|
UTSW |
1 |
152,988,171 (GRCm39) |
missense |
probably benign |
|
R2939:Nmnat2
|
UTSW |
1 |
152,950,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Nmnat2
|
UTSW |
1 |
152,969,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Nmnat2
|
UTSW |
1 |
152,950,480 (GRCm39) |
nonsense |
probably null |
|
R6267:Nmnat2
|
UTSW |
1 |
152,952,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Nmnat2
|
UTSW |
1 |
152,962,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R9334:Nmnat2
|
UTSW |
1 |
152,949,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R9481:Nmnat2
|
UTSW |
1 |
152,962,181 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCTGTGAGGGCTGAGGTAAACG -3'
(R):5'- TGGAGCTGACTACAGACATGGGATG -3'
Sequencing Primer
(F):5'- ctaagcgtcctctgtgcc -3'
(R):5'- CACAACCATGATGTTGTTCTGG -3'
|
Posted On |
2014-01-29 |