Incidental Mutation 'R7136:Nos1'
ID 553058
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 045220-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7136 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 118033925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 349 (R349L)
Ref Sequence ENSEMBL: ENSMUSP00000127432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]
AlphaFold Q9Z0J4
Predicted Effect possibly damaging
Transcript: ENSMUST00000086451
AA Change: R349L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: R349L

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 possibly damaging
Transcript: ENSMUST00000102557
AA Change: R349L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: R349L

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 possibly damaging
Transcript: ENSMUST00000142742
AA Change: R349L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: R349L

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 possibly damaging
Transcript: ENSMUST00000171055
AA Change: R349L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: R349L

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 0.3119 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,560,610 (GRCm39) S262P probably damaging Het
Abcc2 A G 19: 43,825,899 (GRCm39) E1512G probably damaging Het
Abcg2 T G 6: 58,661,325 (GRCm39) Y459D possibly damaging Het
Amy1 T C 3: 113,357,248 (GRCm39) Y197C probably damaging Het
Bptf A G 11: 106,990,541 (GRCm39) I516T probably damaging Het
Capn12 T A 7: 28,582,532 (GRCm39) probably null Het
Cbln2 T A 18: 86,734,797 (GRCm39) L190Q probably damaging Het
Ccdc157 C T 11: 4,098,592 (GRCm39) E305K possibly damaging Het
Ccdc47 A G 11: 106,095,830 (GRCm39) S289P probably benign Het
Chd3 C T 11: 69,239,264 (GRCm39) E1756K probably null Het
Chrd G T 16: 20,553,272 (GRCm39) A183S possibly damaging Het
Cp C T 3: 20,039,822 (GRCm39) R880* probably null Het
Cyp24a1 A T 2: 170,336,063 (GRCm39) D191E probably benign Het
Dnah1 T C 14: 31,020,613 (GRCm39) Y1252C probably damaging Het
Eps8l1 A G 7: 4,480,403 (GRCm39) D487G probably damaging Het
Fam227b T G 2: 125,965,948 (GRCm39) Q159P probably damaging Het
Fat3 A G 9: 16,289,481 (GRCm39) I14T probably benign Het
Fbxl19 C A 7: 127,349,217 (GRCm39) T129N possibly damaging Het
Fuca2 T C 10: 13,381,665 (GRCm39) F193L probably benign Het
H2-Q1 T C 17: 35,539,603 (GRCm39) probably null Het
Hgh1 A G 15: 76,254,631 (GRCm39) M336V probably benign Het
Il12b T C 11: 44,298,857 (GRCm39) L104P probably benign Het
Kcnh2 A T 5: 24,537,989 (GRCm39) F125I probably benign Het
Kcnk7 A G 19: 5,756,104 (GRCm39) H110R probably benign Het
Kdm3a G A 6: 71,588,764 (GRCm39) P415L probably benign Het
Kifc3 T C 8: 95,830,077 (GRCm39) T610A probably benign Het
Krbox5 A G 13: 67,991,111 (GRCm39) probably null Het
Lmbr1l C A 15: 98,809,372 (GRCm39) probably null Het
Lmo7 T A 14: 102,157,975 (GRCm39) M1436K unknown Het
Lrp1 C T 10: 127,394,491 (GRCm39) C2574Y probably damaging Het
Med13l A G 5: 118,859,587 (GRCm39) E258G possibly damaging Het
Mesp1 T C 7: 79,442,906 (GRCm39) I124V probably damaging Het
Mrgpra2a A T 7: 47,076,934 (GRCm39) I108N probably benign Het
Or5k3 C T 16: 58,969,327 (GRCm39) T38I probably damaging Het
Or7c70 T C 10: 78,683,615 (GRCm39) I45V probably benign Het
Osgin1 T A 8: 120,168,176 (GRCm39) M1K probably null Het
Pde4dip C T 3: 97,601,379 (GRCm39) S2346N probably benign Het
Pde7a T C 3: 19,285,258 (GRCm39) M310V probably benign Het
Pigw G A 11: 84,768,585 (GRCm39) T248M probably damaging Het
Pink1 T C 4: 138,044,769 (GRCm39) T323A probably damaging Het
Polr3a C T 14: 24,511,883 (GRCm39) R891Q probably damaging Het
Prkar1b C A 5: 139,094,363 (GRCm39) C75F probably benign Het
Prss58 C T 6: 40,876,987 (GRCm39) probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pttg1ip2 A T 5: 5,516,631 (GRCm39) D63E possibly damaging Het
Qars1 T C 9: 108,389,971 (GRCm39) I350T probably damaging Het
Qprt T C 7: 126,707,984 (GRCm39) K149R probably damaging Het
Rasgrf1 T A 9: 89,873,651 (GRCm39) D653E probably damaging Het
Rbm26 T C 14: 105,381,703 (GRCm39) M481V possibly damaging Het
Rdx C T 9: 51,997,745 (GRCm39) T573M probably damaging Het
Rgs14 A G 13: 55,527,508 (GRCm39) probably null Het
Robo2 T C 16: 73,753,438 (GRCm39) E813G probably damaging Het
Rrbp1 A T 2: 143,791,600 (GRCm39) F1369I probably benign Het
Sh2d4b T A 14: 40,562,209 (GRCm39) T319S probably benign Het
Slc7a15 G T 12: 8,588,895 (GRCm39) N217K probably damaging Het
Stmn1 A G 4: 134,198,088 (GRCm39) K42E probably damaging Het
Tbl2 T G 5: 135,178,682 (GRCm39) W31G probably benign Het
Tmem8b T C 4: 43,669,845 (GRCm39) C114R possibly damaging Het
Tsc2 T C 17: 24,832,254 (GRCm39) S711G probably benign Het
Ttn T C 2: 76,666,904 (GRCm39) R11531G unknown Het
Ube2e3 T C 2: 78,744,085 (GRCm39) Y105H probably benign Het
Usp16 G T 16: 87,280,059 (GRCm39) C753F probably benign Het
Vmn1r13 T C 6: 57,187,239 (GRCm39) S133P possibly damaging Het
Vmn2r76 T A 7: 85,877,975 (GRCm39) Q474L probably benign Het
Vps52 T C 17: 34,184,262 (GRCm39) I601T probably benign Het
Wasf1 A T 10: 40,802,587 (GRCm39) T81S possibly damaging Het
Wdr82 A G 9: 106,048,532 (GRCm39) S39G probably benign Het
Zdhhc13 A G 7: 48,451,080 (GRCm39) I108V 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
R7276:Nos1 UTSW 5 118,048,303 (GRCm39) missense probably damaging 0.97
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'- TTGACAAGCACAAACAACTTGGG -3'
(R):5'- ACATGGGGAATAGTGAGTGTCTTC -3'

Sequencing Primer
(F):5'- GGCACCATGGTTCTCAGTCATG -3'
(R):5'- TGCTGAAGTTGCAGACACGTC -3'
Posted On 2019-05-15