Incidental Mutation 'R7276:Nos1'
ID 565572
Institutional Source Beutler Lab
Gene Symbol Nos1
Ensembl Gene ENSMUSG00000029361
Gene Name nitric oxide synthase 1, neuronal
Synonyms Nos-1, NO, 2310005C01Rik, bNOS, nNOS
MMRRC Submission 045359-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7276 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118048303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 703 (S703P)
Ref Sequence ENSEMBL: ENSMUSP00000127432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]
AlphaFold Q9Z0J4
Predicted Effect probably damaging
Transcript: ENSMUST00000086451
AA Change: S703P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: S703P

DomainStartEndE-ValueType
PDZ 26 100 2.73e-16 SMART
Pfam:NO_synthase 346 717 1e-226 PFAM
Pfam:Flavodoxin_1 757 930 3.5e-56 PFAM
Pfam:FAD_binding_1 985 1214 1.1e-84 PFAM
Pfam:NAD_binding_1 1246 1360 2.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102557
AA Change: S703P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: S703P

DomainStartEndE-ValueType
PDZ 26 100 2.73e-16 SMART
Pfam:NO_synthase 350 712 2e-196 PFAM
Pfam:Flavodoxin_1 757 964 2.3e-55 PFAM
Pfam:FAD_binding_1 1019 1248 2.9e-88 PFAM
Pfam:NAD_binding_1 1280 1394 2.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142742
AA Change: S703P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: S703P

DomainStartEndE-ValueType
PDZ 26 100 2.73e-16 SMART
Pfam:NO_synthase 346 717 4e-226 PFAM
Pfam:Flavodoxin_1 757 930 1.5e-55 PFAM
Pfam:FAD_binding_1 985 1214 3.2e-84 PFAM
Pfam:NAD_binding_1 1246 1360 1.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171055
AA Change: S703P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: S703P

DomainStartEndE-ValueType
PDZ 26 100 2.73e-16 SMART
Pfam:NO_synthase 346 717 4e-226 PFAM
Pfam:Flavodoxin_1 757 930 1.5e-55 PFAM
Pfam:FAD_binding_1 985 1214 3.2e-84 PFAM
Pfam:NAD_binding_1 1246 1360 1.4e-23 PFAM
Meta Mutation Damage Score 0.3476 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous hypomorphic mice exhibit enlarged stomachs, abnormal pyloric and lower esophageal sphincters, age-related cardiac hypertrophy, altered alcohol consumption and responses, decreased ovulation and reduced REM sleep. Homozygous null mice display increased neurogenesis in the adult brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930455H04Rik T C 3: 116,762,227 (GRCm39) V26A unknown Het
4930546C10Rik C T 18: 69,083,093 (GRCm39) W40* probably null Het
Abcc5 T C 16: 20,195,258 (GRCm39) probably null Het
Adamts18 T A 8: 114,501,896 (GRCm39) M322L probably damaging Het
Ankrd44 T A 1: 54,774,239 (GRCm39) N406I probably benign Het
Arhgap35 T G 7: 16,298,493 (GRCm39) T191P probably damaging Het
Atg3 G A 16: 44,982,805 (GRCm39) E37K possibly damaging Het
Bbs1 A T 19: 4,947,738 (GRCm39) probably null Het
BC048562 A G 9: 108,322,435 (GRCm39) N60D probably damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
C7 A T 15: 5,041,449 (GRCm39) C486S probably damaging Het
Cchcr1 C A 17: 35,840,031 (GRCm39) Q634K possibly damaging Het
Cd93 A T 2: 148,283,660 (GRCm39) V562E probably damaging Het
Cemip2 A G 19: 21,812,824 (GRCm39) I1010V probably benign Het
Cript T A 17: 87,341,696 (GRCm39) Y50* probably null Het
Dnah14 T A 1: 181,513,372 (GRCm39) F1908L probably benign Het
Dnah5 A G 15: 28,367,984 (GRCm39) N2790D probably damaging Het
Eif3h C A 15: 51,728,717 (GRCm39) probably null Het
Ffar3 C G 7: 30,555,273 (GRCm39) V16L possibly damaging Het
Gcn1 C T 5: 115,749,119 (GRCm39) R1884W probably damaging Het
Gpatch1 T A 7: 34,996,921 (GRCm39) M426L probably benign Het
Hcn2 T A 10: 79,564,934 (GRCm39) Y449N possibly damaging Het
Hdac10 T C 15: 89,012,488 (GRCm39) T32A probably benign Het
Hykk T C 9: 54,853,502 (GRCm39) Y275H probably damaging Het
Igfn1 G C 1: 135,926,376 (GRCm39) P25A possibly damaging Het
Jph1 T C 1: 17,162,266 (GRCm39) Q132R probably damaging Het
Kat2b T A 17: 53,931,450 (GRCm39) D149E probably damaging Het
Knl1 A T 2: 118,902,167 (GRCm39) K1289N probably damaging Het
Lrrc37a G A 11: 103,347,572 (GRCm39) S3041L unknown Het
Mtrex A T 13: 113,050,973 (GRCm39) Y201N probably benign Het
Mtus2 C T 5: 148,013,368 (GRCm39) R54C probably benign Het
Myo1d A T 11: 80,583,898 (GRCm39) I38N probably damaging Het
Nasp A G 4: 116,471,546 (GRCm39) S94P probably damaging Het
Nfat5 C A 8: 108,093,731 (GRCm39) N657K probably benign Het
Ngfr A G 11: 95,465,170 (GRCm39) L226P probably benign Het
Nsun7 A G 5: 66,434,484 (GRCm39) D275G probably benign Het
Oas1d A G 5: 121,054,944 (GRCm39) N172S possibly damaging Het
Or11h4 A G 14: 50,974,187 (GRCm39) V144A possibly damaging Het
Or2y17 T A 11: 49,231,821 (GRCm39) M154K probably benign Het
Or4c11b T A 2: 88,625,025 (GRCm39) F100I probably damaging Het
Or52e8 T A 7: 104,624,857 (GRCm39) M116L possibly damaging Het
Papss1 A G 3: 131,324,995 (GRCm39) E484G probably benign Het
Pcdh15 A G 10: 74,160,224 (GRCm39) D447G probably benign Het
Phkg2 A G 7: 127,181,558 (GRCm39) E247G possibly damaging Het
Pramel30 A G 4: 144,059,216 (GRCm39) E309G possibly damaging Het
Prelid2 T C 18: 42,045,487 (GRCm39) N141S possibly damaging Het
Psg18 T C 7: 18,079,909 (GRCm39) M431V probably damaging Het
Psmd12 A T 11: 107,394,471 (GRCm39) R397* probably null Het
Ralgds G A 2: 28,435,884 (GRCm39) R503Q probably damaging Het
Rb1cc1 G A 1: 6,319,416 (GRCm39) C945Y probably benign Het
Rgs12 A G 5: 35,183,715 (GRCm39) D1026G probably benign Het
Scn7a G A 2: 66,587,506 (GRCm39) P66S probably damaging Het
Supt16 T C 14: 52,414,458 (GRCm39) E448G probably benign Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Tas2r114 T C 6: 131,666,310 (GRCm39) I239M probably damaging Het
Tecpr1 C T 5: 144,153,838 (GRCm39) W138* probably null Het
Tex101 T C 7: 24,369,829 (GRCm39) N45S probably damaging Het
Tmx1 C A 12: 70,512,917 (GRCm39) T275K possibly damaging Het
Trappc8 T G 18: 20,951,148 (GRCm39) I1434L probably damaging Het
Trappc9 G T 15: 72,924,119 (GRCm39) H208N probably damaging Het
Trcg1 T A 9: 57,149,862 (GRCm39) L478Q probably damaging Het
Trim42 G T 9: 97,251,625 (GRCm39) Y91* probably null Het
Vmn2r114 A G 17: 23,509,934 (GRCm39) S849P probably damaging Het
Vmn2r120 T C 17: 57,831,881 (GRCm39) T303A probably benign Het
Vmn2r13 A G 5: 109,321,645 (GRCm39) W351R probably damaging Het
Vmn2r53 T C 7: 12,340,359 (GRCm39) D38G probably damaging Het
Vsig8 C A 1: 172,390,850 (GRCm39) C411* probably null Het
Vwce A T 19: 10,641,538 (GRCm39) T755S possibly damaging Het
Wwp1 T C 4: 19,611,782 (GRCm39) S897G probably damaging Het
Zfp111 C A 7: 23,898,978 (GRCm39) C212F probably damaging Het
Zfp385b G T 2: 77,280,624 (GRCm39) H193N probably damaging Het
Zfp811 T C 17: 33,017,755 (GRCm39) E95G probably benign Het
Other mutations in Nos1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Nos1 APN 5 118,048,165 (GRCm39) missense probably damaging 0.99
IGL01155:Nos1 APN 5 118,083,991 (GRCm39) missense probably damaging 0.99
IGL01462:Nos1 APN 5 118,005,774 (GRCm39) missense probably benign 0.10
IGL01464:Nos1 APN 5 118,081,257 (GRCm39) missense probably damaging 1.00
IGL01620:Nos1 APN 5 118,043,374 (GRCm39) critical splice acceptor site probably null
IGL01621:Nos1 APN 5 118,083,949 (GRCm39) missense probably damaging 1.00
IGL01796:Nos1 APN 5 118,076,339 (GRCm39) nonsense probably null
IGL02003:Nos1 APN 5 118,043,530 (GRCm39) missense probably damaging 1.00
IGL02274:Nos1 APN 5 118,035,845 (GRCm39) missense probably damaging 1.00
IGL02885:Nos1 APN 5 118,033,855 (GRCm39) missense probably damaging 1.00
IGL02947:Nos1 APN 5 118,081,382 (GRCm39) missense probably damaging 0.99
IGL03088:Nos1 APN 5 118,005,323 (GRCm39) missense probably damaging 1.00
IGL03166:Nos1 APN 5 118,052,517 (GRCm39) splice site probably benign
Crumple UTSW 5 118,033,925 (GRCm39) missense possibly damaging 0.95
penurious UTSW 5 118,033,967 (GRCm39) missense probably damaging 0.97
spendthrift UTSW 5 118,091,848 (GRCm39) splice site probably benign
squanderer UTSW 5 118,048,303 (GRCm39) missense probably damaging 0.97
R0007:Nos1 UTSW 5 118,048,153 (GRCm39) missense probably damaging 1.00
R0012:Nos1 UTSW 5 118,031,967 (GRCm39) missense probably damaging 1.00
R0080:Nos1 UTSW 5 118,031,943 (GRCm39) missense probably damaging 1.00
R0212:Nos1 UTSW 5 118,048,277 (GRCm39) missense possibly damaging 0.57
R0240:Nos1 UTSW 5 118,005,948 (GRCm39) missense probably benign
R0240:Nos1 UTSW 5 118,005,948 (GRCm39) missense probably benign
R0454:Nos1 UTSW 5 118,081,385 (GRCm39) missense probably benign 0.00
R0494:Nos1 UTSW 5 118,043,539 (GRCm39) missense probably damaging 1.00
R0882:Nos1 UTSW 5 118,085,512 (GRCm39) missense probably damaging 1.00
R1099:Nos1 UTSW 5 118,061,460 (GRCm39) missense probably damaging 0.96
R1243:Nos1 UTSW 5 118,043,537 (GRCm39) missense probably damaging 1.00
R1387:Nos1 UTSW 5 118,091,848 (GRCm39) splice site probably benign
R1432:Nos1 UTSW 5 118,087,684 (GRCm39) splice site probably benign
R1698:Nos1 UTSW 5 118,005,297 (GRCm39) missense probably benign 0.01
R1710:Nos1 UTSW 5 118,033,984 (GRCm39) missense probably damaging 1.00
R1859:Nos1 UTSW 5 118,043,527 (GRCm39) missense possibly damaging 0.83
R1973:Nos1 UTSW 5 118,074,491 (GRCm39) missense possibly damaging 0.52
R2084:Nos1 UTSW 5 118,081,310 (GRCm39) missense probably damaging 1.00
R2112:Nos1 UTSW 5 118,074,636 (GRCm39) missense probably benign 0.00
R4689:Nos1 UTSW 5 118,017,450 (GRCm39) missense probably benign 0.04
R4769:Nos1 UTSW 5 118,081,310 (GRCm39) nonsense probably null
R4893:Nos1 UTSW 5 118,090,942 (GRCm39) missense possibly damaging 0.50
R4916:Nos1 UTSW 5 118,085,635 (GRCm39) critical splice donor site probably null
R4956:Nos1 UTSW 5 118,085,575 (GRCm39) missense probably benign
R4971:Nos1 UTSW 5 118,081,899 (GRCm39) missense probably benign 0.05
R4987:Nos1 UTSW 5 118,064,598 (GRCm39) critical splice donor site probably null
R5015:Nos1 UTSW 5 118,005,334 (GRCm39) missense probably damaging 1.00
R5031:Nos1 UTSW 5 118,017,378 (GRCm39) missense probably benign
R5137:Nos1 UTSW 5 118,043,378 (GRCm39) missense probably benign 0.29
R5481:Nos1 UTSW 5 118,005,819 (GRCm39) missense probably benign 0.06
R5541:Nos1 UTSW 5 118,043,459 (GRCm39) missense probably damaging 1.00
R5655:Nos1 UTSW 5 118,061,322 (GRCm39) missense probably damaging 1.00
R5866:Nos1 UTSW 5 118,033,967 (GRCm39) missense probably damaging 0.97
R5934:Nos1 UTSW 5 118,074,510 (GRCm39) missense probably damaging 0.99
R6158:Nos1 UTSW 5 118,005,639 (GRCm39) missense probably benign 0.05
R6225:Nos1 UTSW 5 118,050,917 (GRCm39) missense probably damaging 1.00
R6261:Nos1 UTSW 5 118,074,635 (GRCm39) missense probably benign
R6388:Nos1 UTSW 5 118,052,501 (GRCm39) missense possibly damaging 0.91
R6987:Nos1 UTSW 5 118,033,850 (GRCm39) missense probably benign 0.05
R7104:Nos1 UTSW 5 118,085,496 (GRCm39) missense probably damaging 1.00
R7136:Nos1 UTSW 5 118,033,925 (GRCm39) missense possibly damaging 0.95
R7299:Nos1 UTSW 5 118,005,970 (GRCm39) missense possibly damaging 0.89
R7301:Nos1 UTSW 5 118,005,970 (GRCm39) missense possibly damaging 0.89
R7402:Nos1 UTSW 5 118,087,880 (GRCm39) missense probably benign 0.34
R7408:Nos1 UTSW 5 118,005,583 (GRCm39) missense probably damaging 1.00
R7618:Nos1 UTSW 5 118,042,009 (GRCm39) missense probably benign 0.01
R7689:Nos1 UTSW 5 118,035,792 (GRCm39) missense probably damaging 0.98
R7964:Nos1 UTSW 5 118,038,607 (GRCm39) missense probably damaging 1.00
R8962:Nos1 UTSW 5 118,017,405 (GRCm39) missense probably benign 0.05
R9147:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9148:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9149:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9246:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9248:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9249:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9254:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9255:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9256:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9283:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9320:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9321:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9326:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9327:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9331:Nos1 UTSW 5 118,038,589 (GRCm39) missense possibly damaging 0.59
R9379:Nos1 UTSW 5 118,017,402 (GRCm39) missense probably benign 0.44
R9432:Nos1 UTSW 5 118,034,871 (GRCm39) missense probably damaging 1.00
R9470:Nos1 UTSW 5 118,064,560 (GRCm39) missense probably damaging 1.00
R9581:Nos1 UTSW 5 118,043,459 (GRCm39) missense probably damaging 1.00
R9623:Nos1 UTSW 5 118,087,849 (GRCm39) missense probably benign 0.00
X0025:Nos1 UTSW 5 118,081,890 (GRCm39) missense probably benign 0.00
X0026:Nos1 UTSW 5 118,081,217 (GRCm39) missense probably damaging 1.00
Z1177:Nos1 UTSW 5 118,061,343 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAAGGTGACCATTGTGGACC -3'
(R):5'- TCCTTGTAGTGTCCCACCAG -3'

Sequencing Primer
(F):5'- TGGACCACCACTCTGCC -3'
(R):5'- CCAGGCTGGCTACAAATTTC -3'
Posted On 2019-06-26