Incidental Mutation 'R9383:Opn1sw'
ID 710146
Institutional Source Beutler Lab
Gene Symbol Opn1sw
Ensembl Gene ENSMUSG00000058831
Gene Name opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)
Synonyms Blue/UV Opsin, Bcp, UV cone pigment, Blue Opsin, SWS opsin, Short Wavelength Sensitive opsin, S Opsin, Blue Cone Opsin
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R9383 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 29376670-29380512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29378000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 328 (S328P)
Ref Sequence ENSEMBL: ENSMUSP00000079289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031779] [ENSMUST00000080428] [ENSMUST00000090481] [ENSMUST00000147483] [ENSMUST00000172974] [ENSMUST00000173216] [ENSMUST00000173653] [ENSMUST00000173694] [ENSMUST00000174096]
AlphaFold P51491
Predicted Effect probably benign
Transcript: ENSMUST00000031779
SMART Domains Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EFh 72 100 1.1e1 SMART
Blast:EFh 108 136 3e-11 BLAST
EFh 155 183 9.61e1 SMART
EFh 192 220 2.03e-2 SMART
Blast:EFh 233 261 2e-10 BLAST
EFh 269 297 5.75e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000080428
AA Change: S328P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000079289
Gene: ENSMUSG00000058831
AA Change: S328P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 41 318 4e-9 PFAM
Pfam:7tm_1 49 301 2.5e-43 PFAM
Pfam:7tm_4 188 319 6.2e-8 PFAM
low complexity region 330 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090481
SMART Domains Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EFh 72 100 1.82e0 SMART
EFh 108 136 2.44e1 SMART
EFh 155 183 9.61e1 SMART
EFh 192 220 2.03e-2 SMART
Blast:EFh 233 261 2e-10 BLAST
EFh 269 297 5.75e1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000147483
AA Change: S265P
SMART Domains Protein: ENSMUSP00000133745
Gene: ENSMUSG00000058831
AA Change: S265P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 40 250 9.2e-7 PFAM
Pfam:7TM_GPCR_Srv 41 254 1.8e-6 PFAM
Pfam:7tm_1 49 271 1.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156163
SMART Domains Protein: ENSMUSP00000133615
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
EFh 26 54 9.61e1 SMART
EFh 63 91 2.03e-2 SMART
Blast:EFh 104 132 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172607
SMART Domains Protein: ENSMUSP00000133609
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
Blast:EFh 2 20 1e-5 BLAST
SCOP:d2mysb_ 2 51 6e-5 SMART
Blast:EFh 28 56 2e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172974
SMART Domains Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EFh 72 100 1.1e1 SMART
Blast:EFh 108 136 1e-11 BLAST
EFh 155 183 9.61e1 SMART
EFh 192 220 1.41e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173216
SMART Domains Protein: ENSMUSP00000134708
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
EFh 3 31 9.61e1 SMART
EFh 40 68 2.03e-2 SMART
Blast:EFh 81 109 2e-11 BLAST
EFh 117 145 5.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173653
SMART Domains Protein: ENSMUSP00000133534
Gene: ENSMUSG00000058831

DomainStartEndE-ValueType
Pfam:7tm_1 1 61 6.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173694
SMART Domains Protein: ENSMUSP00000133436
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EFh 72 100 5.38e0 SMART
EFh 108 136 5.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174096
SMART Domains Protein: ENSMUSP00000133945
Gene: ENSMUSG00000029767

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EF-hand_7 43 97 5.3e-8 PFAM
Pfam:EF-hand_6 72 101 6.5e-5 PFAM
Pfam:EF-hand_7 72 133 5e-12 PFAM
Pfam:EF-hand_5 73 98 4.5e-5 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal cone physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A G 8: 95,661,162 (GRCm39) E124G Het
Atp1a2 T C 1: 172,107,334 (GRCm39) I729V probably benign Het
Ccn2 T G 10: 24,471,883 (GRCm39) V58G possibly damaging Het
Chd2 T A 7: 73,098,918 (GRCm39) E1467V probably null Het
Col6a5 T C 9: 105,803,110 (GRCm39) D1285G unknown Het
Coro7 A G 16: 4,452,888 (GRCm39) C287R probably damaging Het
Cpa3 T C 3: 20,283,045 (GRCm39) E134G probably benign Het
Csf3r C T 4: 125,937,239 (GRCm39) P708S possibly damaging Het
Defb30 T C 14: 63,273,463 (GRCm39) E49G probably benign Het
Dnah3 A T 7: 119,646,819 (GRCm39) I1070K probably benign Het
Dnm2 G A 9: 21,383,920 (GRCm39) V234M probably damaging Het
Drg2 T A 11: 60,350,287 (GRCm39) M82K probably benign Het
Dus2 G A 8: 106,776,950 (GRCm39) E312K probably benign Het
Efcab6 T C 15: 83,756,620 (GRCm39) E1240G possibly damaging Het
Ep400 T C 5: 110,833,351 (GRCm39) E1957G unknown Het
Gpnmb A G 6: 49,028,918 (GRCm39) S479G probably damaging Het
Gpr153 T C 4: 152,367,516 (GRCm39) S456P probably benign Het
Gprc5b A T 7: 118,575,761 (GRCm39) M388K probably damaging Het
H2-T23 T C 17: 36,343,227 (GRCm39) D50G possibly damaging Het
Hipk1 T C 3: 103,684,883 (GRCm39) E244G probably damaging Het
Malrd1 T A 2: 15,700,012 (GRCm39) C620S unknown Het
Maz G A 7: 126,624,083 (GRCm39) Q358* probably null Het
Mcc A T 18: 44,575,985 (GRCm39) I901N probably benign Het
Megf11 T G 9: 64,545,732 (GRCm39) C172G probably damaging Het
Mipol1 A G 12: 57,352,820 (GRCm39) Y53C probably benign Het
Nectin4 C T 1: 171,213,251 (GRCm39) T391I probably damaging Het
Nell2 A T 15: 95,282,957 (GRCm39) Y362N possibly damaging Het
Nphp4 T C 4: 152,628,918 (GRCm39) probably null Het
Nsun4 A G 4: 115,891,473 (GRCm39) V302A probably benign Het
Odf2 T A 2: 29,791,249 (GRCm39) L181H probably damaging Het
Or8k30 T C 2: 86,338,854 (GRCm39) I17T probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Pik3c2g T A 6: 139,827,742 (GRCm39) Y712* probably null Het
Pkd1 C T 17: 24,794,900 (GRCm39) R2196C probably damaging Het
Pkd1l3 TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA 8: 110,350,601 (GRCm39) probably benign Het
Plekhm2 A T 4: 141,359,612 (GRCm39) M385K probably damaging Het
Pole T C 5: 110,438,892 (GRCm39) V164A possibly damaging Het
Prr19 T A 7: 25,002,335 (GRCm39) F11Y probably damaging Het
Prtg G T 9: 72,757,143 (GRCm39) L355F probably benign Het
Raph1 C A 1: 60,564,829 (GRCm39) M219I unknown Het
Rtkn2 A G 10: 67,839,094 (GRCm39) D140G possibly damaging Het
Serpina5 T C 12: 104,070,131 (GRCm39) S343P probably damaging Het
Slc1a1 A G 19: 28,889,125 (GRCm39) K466R probably benign Het
Slc43a1 G A 2: 84,690,506 (GRCm39) V518M probably damaging Het
Slc47a2 A G 11: 61,227,749 (GRCm39) L125P probably damaging Het
Slc4a7 C A 14: 14,766,803 (GRCm38) C585* probably null Het
Snx19 A G 9: 30,347,196 (GRCm39) E713G probably damaging Het
Tiam1 C T 16: 89,655,561 (GRCm39) V715M probably damaging Het
Tln2 T A 9: 67,278,043 (GRCm39) M322L probably benign Het
Top2a G A 11: 98,901,884 (GRCm39) R449* probably null Het
Trpv4 C A 5: 114,796,474 (GRCm39) probably benign Het
Vmn1r214 A C 13: 23,219,095 (GRCm39) R196S probably benign Het
Vmn1r43 A T 6: 89,846,552 (GRCm39) H311Q possibly damaging Het
Vmn1r54 A G 6: 90,247,009 (GRCm39) T308A probably benign Het
Zfand3 T A 17: 30,354,479 (GRCm39) Y99N probably benign Het
Zfp119b T C 17: 56,246,355 (GRCm39) Y277C probably damaging Het
Zfp345 G A 2: 150,314,503 (GRCm39) H345Y possibly damaging Het
Zyg11a T C 4: 108,046,926 (GRCm39) E516G probably damaging Het
Other mutations in Opn1sw
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03157:Opn1sw APN 6 29,379,803 (GRCm39) missense possibly damaging 0.88
R0550:Opn1sw UTSW 6 29,380,203 (GRCm39) missense probably damaging 1.00
R1533:Opn1sw UTSW 6 29,378,923 (GRCm39) missense probably benign 0.36
R1902:Opn1sw UTSW 6 29,379,803 (GRCm39) missense possibly damaging 0.88
R4085:Opn1sw UTSW 6 29,380,143 (GRCm39) missense possibly damaging 0.89
R4418:Opn1sw UTSW 6 29,379,423 (GRCm39) nonsense probably null
R4812:Opn1sw UTSW 6 29,378,038 (GRCm39) missense probably damaging 0.99
R5692:Opn1sw UTSW 6 29,379,840 (GRCm39) unclassified probably benign
R5839:Opn1sw UTSW 6 29,379,829 (GRCm39) missense probably damaging 1.00
R5915:Opn1sw UTSW 6 29,379,754 (GRCm39) splice site probably null
R6045:Opn1sw UTSW 6 29,379,869 (GRCm39) missense probably damaging 1.00
R6295:Opn1sw UTSW 6 29,379,413 (GRCm39) missense possibly damaging 0.90
R6784:Opn1sw UTSW 6 29,379,846 (GRCm39) missense probably damaging 1.00
R7259:Opn1sw UTSW 6 29,378,911 (GRCm39) missense probably benign
R7315:Opn1sw UTSW 6 29,379,362 (GRCm39) missense probably damaging 1.00
R7412:Opn1sw UTSW 6 29,379,856 (GRCm39) missense probably damaging 1.00
R7749:Opn1sw UTSW 6 29,380,168 (GRCm39) missense probably benign 0.00
R9385:Opn1sw UTSW 6 29,379,425 (GRCm39) missense probably damaging 1.00
R9591:Opn1sw UTSW 6 29,378,926 (GRCm39) missense probably damaging 1.00
Z1176:Opn1sw UTSW 6 29,379,455 (GRCm39) missense probably damaging 1.00
Z1177:Opn1sw UTSW 6 29,380,343 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAATGGTCCATGTGGCCCTG -3'
(R):5'- ACATCAACAGTAACAGGTGTCTAGC -3'

Sequencing Primer
(F):5'- TAACAGGAAAATGAAGGTGACTCAC -3'
(R):5'- CATATGGAAACCAGGCTGTCCTTG -3'
Posted On 2022-04-18