Incidental Mutation 'R6380:Whrn'
ID 515255
Institutional Source Beutler Lab
Gene Symbol Whrn
Ensembl Gene ENSMUSG00000039137
Gene Name whirlin
Synonyms 1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik
MMRRC Submission 044529-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6380 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 63333147-63414228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63336829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 136 (P136T)
Ref Sequence ENSEMBL: ENSMUSP00000114030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063650] [ENSMUST00000084510] [ENSMUST00000095037] [ENSMUST00000095038] [ENSMUST00000102867] [ENSMUST00000107393] [ENSMUST00000119294]
AlphaFold Q80VW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000063650
AA Change: P578T

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: P578T

DomainStartEndE-ValueType
low complexity region 3 38 N/A INTRINSIC
low complexity region 126 137 N/A INTRINSIC
PDZ 151 223 3.62e-21 SMART
PDZ 289 361 3.77e-19 SMART
low complexity region 522 541 N/A INTRINSIC
low complexity region 629 642 N/A INTRINSIC
PDZ 824 904 2.63e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084510
AA Change: P589T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: P589T

DomainStartEndE-ValueType
low complexity region 3 38 N/A INTRINSIC
low complexity region 126 137 N/A INTRINSIC
PDZ 151 223 3.62e-21 SMART
PDZ 289 361 3.77e-19 SMART
low complexity region 522 541 N/A INTRINSIC
low complexity region 640 653 N/A INTRINSIC
PDZ 835 915 2.63e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095037
AA Change: P75T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: P75T

DomainStartEndE-ValueType
low complexity region 19 38 N/A INTRINSIC
low complexity region 126 139 N/A INTRINSIC
PDZ 321 401 2.63e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095038
AA Change: P147T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: P147T

DomainStartEndE-ValueType
low complexity region 80 99 N/A INTRINSIC
low complexity region 198 211 N/A INTRINSIC
PDZ 393 473 2.63e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102867
AA Change: P578T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: P578T

DomainStartEndE-ValueType
low complexity region 3 38 N/A INTRINSIC
low complexity region 126 137 N/A INTRINSIC
PDZ 151 223 3.62e-21 SMART
PDZ 289 361 3.77e-19 SMART
low complexity region 522 541 N/A INTRINSIC
low complexity region 629 642 N/A INTRINSIC
PDZ 823 903 2.63e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107393
AA Change: P582T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: P582T

DomainStartEndE-ValueType
low complexity region 3 38 N/A INTRINSIC
low complexity region 126 137 N/A INTRINSIC
PDZ 151 223 1.7e-23 SMART
PDZ 289 361 1.8e-21 SMART
low complexity region 526 545 N/A INTRINSIC
low complexity region 633 646 N/A INTRINSIC
PDZ 828 908 1.3e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119294
AA Change: P136T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: P136T

DomainStartEndE-ValueType
low complexity region 80 99 N/A INTRINSIC
low complexity region 187 200 N/A INTRINSIC
PDZ 382 462 2.63e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155058
Predicted Effect probably benign
Transcript: ENSMUST00000145630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124016
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.5%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: This gene encodes a protein required for elongation and actin polymerization in the hair cell stereocilia. The encoded protein is localized to the cytoplasm and co-localizes with the growing end of actin filaments. Mutations in this gene have been linked to deafness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Spontaneous mutants lacking both isoforms show short stereocilia, severe deafness and vestibular deficits. Targeted homozygotes lacking the long form show altered OHC stereocilia bundles but a milder phenotype with normal stereocilia in IHCs and a subset of vestibular HCs and no vestibular deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik G A 6: 91,900,118 (GRCm39) G424D probably damaging Het
Aco1 T C 4: 40,185,028 (GRCm39) V566A probably benign Het
Adat1 G T 8: 112,704,704 (GRCm39) T414K probably benign Het
Alox12e A G 11: 70,211,927 (GRCm39) V194A probably benign Het
Anpep A G 7: 79,491,644 (GRCm39) V119A probably benign Het
Atat1 C A 17: 36,219,849 (GRCm39) probably null Het
Atp10a G A 7: 58,469,432 (GRCm39) W1094* probably null Het
Bcl11b T C 12: 107,969,360 (GRCm39) R15G probably benign Het
Bltp1 A G 3: 37,087,456 (GRCm39) D4019G probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
Ccnd1 A G 7: 144,493,306 (GRCm39) V42A probably benign Het
Cdyl2 T A 8: 117,309,923 (GRCm39) K344N probably damaging Het
Cep68 A G 11: 20,180,498 (GRCm39) M711T probably benign Het
Cyp2j7 A G 4: 96,118,211 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,935,357 (GRCm39) D86E probably damaging Het
Dclk1 G T 3: 55,154,615 (GRCm39) R15L probably damaging Het
Dpy19l1 T A 9: 24,393,341 (GRCm39) K143* probably null Het
Duox2 A G 2: 122,111,483 (GRCm39) V1405A probably benign Het
Filip1 T C 9: 79,726,906 (GRCm39) E571G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Jph1 T C 1: 17,162,071 (GRCm39) N197S probably damaging Het
Kcnt2 T C 1: 140,437,322 (GRCm39) L535S probably damaging Het
Lepr C A 4: 101,622,151 (GRCm39) S361* probably null Het
Lfng T A 5: 140,600,151 (GRCm39) probably null Het
Lpcat2 G A 8: 93,613,209 (GRCm39) A250T probably benign Het
Mab21l4 G A 1: 93,088,613 (GRCm39) probably null Het
Map3k4 A T 17: 12,490,954 (GRCm39) M159K possibly damaging Het
Notch3 A T 17: 32,363,533 (GRCm39) C1177S probably damaging Het
Olfml2b C T 1: 170,496,800 (GRCm39) P477L probably benign Het
Or51a5 A T 7: 102,771,136 (GRCm39) F281Y probably benign Het
Or5k16 T A 16: 58,736,627 (GRCm39) I126L probably damaging Het
Or6c33 A T 10: 129,853,782 (GRCm39) H184L probably benign Het
Pald1 G T 10: 61,186,714 (GRCm39) F146L possibly damaging Het
Pcdhga1 A G 18: 37,796,022 (GRCm39) D342G probably damaging Het
Plcb2 T C 2: 118,545,949 (GRCm39) S579G probably damaging Het
Prdm16 A T 4: 154,425,824 (GRCm39) S654T probably benign Het
Rab3gap2 C A 1: 184,968,181 (GRCm39) L178I probably damaging Het
Rbfox1 C T 16: 7,042,214 (GRCm39) Q23* probably null Het
Slc14a2 T G 18: 78,190,190 (GRCm39) T920P probably benign Het
Slc17a6 G A 7: 51,317,211 (GRCm39) V411M probably benign Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Syne2 T A 12: 76,151,754 (GRCm39) F1872I probably damaging Het
Tor1aip1 T C 1: 155,894,234 (GRCm39) E274G possibly damaging Het
Trpm1 A T 7: 63,918,045 (GRCm39) T462S probably benign Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn1r178 A G 7: 23,592,984 (GRCm39) T11A possibly damaging Het
Vmn2r69 A T 7: 85,061,067 (GRCm39) N172K probably benign Het
Zfhx4 A G 3: 5,478,170 (GRCm39) N3570S probably damaging Het
Zfp689 A G 7: 127,043,968 (GRCm39) S221P probably damaging Het
Other mutations in Whrn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Whrn APN 4 63,391,015 (GRCm39) missense probably damaging 1.00
IGL01643:Whrn APN 4 63,334,672 (GRCm39) missense possibly damaging 0.79
IGL02065:Whrn APN 4 63,336,822 (GRCm39) missense possibly damaging 0.52
IGL02119:Whrn APN 4 63,353,724 (GRCm39) missense probably damaging 0.99
IGL02589:Whrn APN 4 63,336,334 (GRCm39) nonsense probably null
IGL02638:Whrn APN 4 63,337,709 (GRCm39) missense possibly damaging 0.47
IGL02865:Whrn APN 4 63,333,729 (GRCm39) missense probably benign 0.08
IGL02934:Whrn APN 4 63,334,342 (GRCm39) missense probably damaging 1.00
IGL03372:Whrn APN 4 63,336,855 (GRCm39) missense probably damaging 0.96
R0090:Whrn UTSW 4 63,350,969 (GRCm39) missense possibly damaging 0.79
R0592:Whrn UTSW 4 63,333,804 (GRCm39) missense probably damaging 1.00
R0631:Whrn UTSW 4 63,337,726 (GRCm39) missense probably damaging 1.00
R1916:Whrn UTSW 4 63,412,969 (GRCm39) missense probably damaging 1.00
R1933:Whrn UTSW 4 63,333,876 (GRCm39) nonsense probably null
R1958:Whrn UTSW 4 63,353,666 (GRCm39) missense possibly damaging 0.62
R2255:Whrn UTSW 4 63,336,385 (GRCm39) missense possibly damaging 0.92
R2513:Whrn UTSW 4 63,353,649 (GRCm39) missense probably benign 0.22
R3699:Whrn UTSW 4 63,379,649 (GRCm39) splice site probably benign
R3919:Whrn UTSW 4 63,413,421 (GRCm39) nonsense probably null
R4016:Whrn UTSW 4 63,333,876 (GRCm39) nonsense probably null
R4241:Whrn UTSW 4 63,351,210 (GRCm39) unclassified probably benign
R4517:Whrn UTSW 4 63,379,517 (GRCm39) critical splice donor site probably null
R4739:Whrn UTSW 4 63,336,402 (GRCm39) missense probably damaging 1.00
R5207:Whrn UTSW 4 63,350,951 (GRCm39) missense probably damaging 1.00
R5281:Whrn UTSW 4 63,336,664 (GRCm39) missense probably benign 0.04
R5307:Whrn UTSW 4 63,350,080 (GRCm39) missense probably benign 0.01
R5463:Whrn UTSW 4 63,351,053 (GRCm39) missense probably benign 0.08
R5663:Whrn UTSW 4 63,336,685 (GRCm39) missense probably damaging 0.98
R5754:Whrn UTSW 4 63,334,825 (GRCm39) missense probably damaging 0.98
R5933:Whrn UTSW 4 63,412,945 (GRCm39) missense probably damaging 1.00
R6212:Whrn UTSW 4 63,412,923 (GRCm39) nonsense probably null
R6381:Whrn UTSW 4 63,390,921 (GRCm39) missense probably benign 0.00
R7030:Whrn UTSW 4 63,413,368 (GRCm39) unclassified probably benign
R7350:Whrn UTSW 4 63,350,196 (GRCm39) missense possibly damaging 0.71
R7382:Whrn UTSW 4 63,336,573 (GRCm39) missense probably benign
R7419:Whrn UTSW 4 63,334,330 (GRCm39) missense possibly damaging 0.94
R8334:Whrn UTSW 4 63,413,047 (GRCm39) missense probably damaging 1.00
R9378:Whrn UTSW 4 63,350,079 (GRCm39) missense probably benign 0.00
X0009:Whrn UTSW 4 63,350,148 (GRCm39) missense probably benign 0.00
Z1176:Whrn UTSW 4 63,333,803 (GRCm39) missense probably damaging 1.00
Z1177:Whrn UTSW 4 63,336,736 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAGTCCTGTGCTGAGGAAG -3'
(R):5'- CTAAGGAATCGAGTGGGTCC -3'

Sequencing Primer
(F):5'- TGTGCTGAGGAAGGTCCC -3'
(R):5'- CTGAGATGCAGGGAACAGTTTTC -3'
Posted On 2018-05-04