Incidental Mutation 'R6491:Ror1'
ID 522855
Institutional Source Beutler Lab
Gene Symbol Ror1
Ensembl Gene ENSMUSG00000035305
Gene Name receptor tyrosine kinase-like orphan receptor 1
Synonyms Ntrkr1, 2810404D04Rik
MMRRC Submission 044623-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6491 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 99952988-100301962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100267109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 270 (N270S)
Ref Sequence ENSEMBL: ENSMUSP00000048171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039630]
AlphaFold Q9Z139
Predicted Effect possibly damaging
Transcript: ENSMUST00000039630
AA Change: N270S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: N270S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IGc2 70 138 8.37e-15 SMART
Pfam:Fz 170 290 4.9e-13 PFAM
KR 311 393 7.57e-47 SMART
transmembrane domain 404 426 N/A INTRINSIC
TyrKc 473 746 2.46e-137 SMART
low complexity region 753 762 N/A INTRINSIC
low complexity region 817 828 N/A INTRINSIC
low complexity region 849 864 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: This gene encodes a receptor tyrosine kinase that has been implicated in nervous system development, specifically in the maintenance of neural progenitor cell fate, neurite extension and synapse formation. The encoded protein, likely a pseudokinase that lacks catalytic activity, may also regulate adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first day after birth from respiratory defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,612,508 (GRCm39) L431P probably damaging Het
Acad10 A C 5: 121,768,220 (GRCm39) W779G probably damaging Het
Acrbp A G 6: 125,028,442 (GRCm39) probably benign Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
Ap2a1 A T 7: 44,565,588 (GRCm39) I93K probably damaging Het
Arnt T A 3: 95,383,454 (GRCm39) M240K probably damaging Het
Ceacam12 A T 7: 17,803,185 (GRCm39) K197M probably damaging Het
Cep41 T C 6: 30,656,483 (GRCm39) N323S probably benign Het
Dst A G 1: 34,232,093 (GRCm39) T2904A probably benign Het
Eml1 G A 12: 108,479,330 (GRCm39) probably null Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Irf2bpl A G 12: 86,930,238 (GRCm39) V145A probably benign Het
Itga2b T C 11: 102,350,695 (GRCm39) probably null Het
Itga8 T C 2: 12,209,587 (GRCm39) D466G probably damaging Het
Kdm4c G T 4: 74,291,873 (GRCm39) C830F probably damaging Het
Mrps27 T C 13: 99,499,538 (GRCm39) S73P probably damaging Het
Mtdh T G 15: 34,116,473 (GRCm39) N17K probably damaging Het
Muc3a A G 5: 137,246,591 (GRCm39) S9P probably benign Het
Or8b46 A G 9: 38,558,751 (GRCm39) L23P probably damaging Het
Oxgr1 T A 14: 120,259,419 (GRCm39) I263F probably benign Het
Phc1 A G 6: 122,311,923 (GRCm39) Het
Ppp2r5d A G 17: 46,996,509 (GRCm39) F388S probably damaging Het
Pxmp4 A G 2: 154,434,083 (GRCm39) probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Slc7a14 T C 3: 31,278,093 (GRCm39) Y504C probably damaging Het
Snx9 A G 17: 5,970,437 (GRCm39) D391G probably benign Het
St18 T A 1: 6,898,209 (GRCm39) Y670* probably null Het
Tjp1 A T 7: 64,986,865 (GRCm39) F207I possibly damaging Het
Trappc3 A G 4: 126,169,022 (GRCm39) I171V probably benign Het
Ugt2b5 A T 5: 87,273,328 (GRCm39) L446* probably null Het
Vmn2r105 A T 17: 20,447,992 (GRCm39) Y277* probably null Het
Vmn2r11 A T 5: 109,196,800 (GRCm39) N557K possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp938 A G 10: 82,063,363 (GRCm39) *65Q probably null Het
Other mutations in Ror1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Ror1 APN 4 100,190,940 (GRCm39) missense probably damaging 1.00
IGL00939:Ror1 APN 4 100,298,423 (GRCm39) missense probably benign 0.01
IGL01408:Ror1 APN 4 100,190,984 (GRCm39) missense probably damaging 1.00
IGL01678:Ror1 APN 4 100,283,165 (GRCm39) missense possibly damaging 0.68
IGL01700:Ror1 APN 4 100,266,968 (GRCm39) missense probably damaging 1.00
IGL01985:Ror1 APN 4 100,283,161 (GRCm39) missense possibly damaging 0.94
IGL02002:Ror1 APN 4 100,298,381 (GRCm39) missense probably damaging 1.00
IGL02634:Ror1 APN 4 100,283,307 (GRCm39) missense probably benign 0.00
IGL02995:Ror1 APN 4 100,191,722 (GRCm39) splice site probably benign
IGL03033:Ror1 APN 4 100,269,092 (GRCm39) missense possibly damaging 0.67
IGL03207:Ror1 APN 4 100,265,142 (GRCm39) splice site probably null
F5770:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
R0256:Ror1 UTSW 4 100,266,942 (GRCm39) missense probably benign 0.20
R0417:Ror1 UTSW 4 100,269,197 (GRCm39) missense possibly damaging 0.94
R0525:Ror1 UTSW 4 100,298,717 (GRCm39) missense probably damaging 1.00
R1034:Ror1 UTSW 4 100,190,817 (GRCm39) nonsense probably null
R1278:Ror1 UTSW 4 100,299,075 (GRCm39) missense possibly damaging 0.69
R1368:Ror1 UTSW 4 100,298,334 (GRCm39) missense possibly damaging 0.94
R1437:Ror1 UTSW 4 100,269,306 (GRCm39) missense probably benign
R1441:Ror1 UTSW 4 100,298,180 (GRCm39) missense probably benign
R1544:Ror1 UTSW 4 100,299,183 (GRCm39) missense probably damaging 1.00
R1717:Ror1 UTSW 4 100,160,135 (GRCm39) missense probably benign
R1857:Ror1 UTSW 4 100,298,700 (GRCm39) missense probably damaging 1.00
R2018:Ror1 UTSW 4 100,265,038 (GRCm39) nonsense probably null
R2051:Ror1 UTSW 4 100,265,065 (GRCm39) nonsense probably null
R2127:Ror1 UTSW 4 100,299,290 (GRCm39) missense probably benign
R2132:Ror1 UTSW 4 100,267,222 (GRCm39) missense probably benign 0.35
R2133:Ror1 UTSW 4 100,267,222 (GRCm39) missense probably benign 0.35
R2176:Ror1 UTSW 4 100,299,071 (GRCm39) missense probably damaging 0.99
R2431:Ror1 UTSW 4 100,298,352 (GRCm39) missense probably damaging 1.00
R2896:Ror1 UTSW 4 99,953,477 (GRCm39) missense unknown
R3005:Ror1 UTSW 4 100,298,961 (GRCm39) missense probably damaging 0.99
R3780:Ror1 UTSW 4 100,269,314 (GRCm39) missense probably benign 0.34
R3850:Ror1 UTSW 4 100,299,357 (GRCm39) missense possibly damaging 0.90
R3861:Ror1 UTSW 4 100,265,120 (GRCm39) missense possibly damaging 0.46
R4599:Ror1 UTSW 4 100,265,107 (GRCm39) missense probably damaging 0.99
R4863:Ror1 UTSW 4 100,267,001 (GRCm39) missense probably damaging 0.99
R4871:Ror1 UTSW 4 100,283,195 (GRCm39) missense probably benign
R4990:Ror1 UTSW 4 100,299,161 (GRCm39) missense probably benign
R5023:Ror1 UTSW 4 100,283,129 (GRCm39) missense probably benign 0.01
R5028:Ror1 UTSW 4 100,269,133 (GRCm39) missense possibly damaging 0.67
R5079:Ror1 UTSW 4 100,298,619 (GRCm39) missense probably damaging 1.00
R5294:Ror1 UTSW 4 100,283,135 (GRCm39) missense probably benign 0.00
R5538:Ror1 UTSW 4 100,298,208 (GRCm39) missense probably benign
R6339:Ror1 UTSW 4 100,269,128 (GRCm39) missense possibly damaging 0.91
R6632:Ror1 UTSW 4 100,299,303 (GRCm39) missense probably benign
R6733:Ror1 UTSW 4 100,283,252 (GRCm39) missense probably benign
R7022:Ror1 UTSW 4 100,265,108 (GRCm39) missense probably damaging 1.00
R7054:Ror1 UTSW 4 100,299,436 (GRCm39) missense probably benign 0.00
R7121:Ror1 UTSW 4 100,160,142 (GRCm39) missense probably benign 0.00
R7350:Ror1 UTSW 4 100,283,140 (GRCm39) missense probably benign 0.00
R7492:Ror1 UTSW 4 100,298,256 (GRCm39) missense probably benign 0.22
R7502:Ror1 UTSW 4 100,190,827 (GRCm39) missense probably benign 0.03
R7531:Ror1 UTSW 4 100,298,388 (GRCm39) missense probably damaging 1.00
R7661:Ror1 UTSW 4 100,298,687 (GRCm39) missense probably damaging 1.00
R7822:Ror1 UTSW 4 100,298,564 (GRCm39) missense probably damaging 1.00
R7831:Ror1 UTSW 4 100,298,295 (GRCm39) missense probably benign 0.01
R8366:Ror1 UTSW 4 100,267,195 (GRCm39) missense possibly damaging 0.91
R8539:Ror1 UTSW 4 100,299,084 (GRCm39) missense possibly damaging 0.71
R8757:Ror1 UTSW 4 100,298,080 (GRCm39) missense probably benign 0.01
R8862:Ror1 UTSW 4 100,191,715 (GRCm39) critical splice donor site probably null
R8913:Ror1 UTSW 4 100,265,027 (GRCm39) missense possibly damaging 0.89
R9382:Ror1 UTSW 4 100,191,709 (GRCm39) missense probably benign 0.00
V7580:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
V7583:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
X0020:Ror1 UTSW 4 100,283,287 (GRCm39) missense probably benign 0.02
Z1177:Ror1 UTSW 4 100,160,116 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCTGCCTTCACCATGATTG -3'
(R):5'- CTAGAAGGTCAGTGGTCAGTGG -3'

Sequencing Primer
(F):5'- TCCCGTACTGTGACGAAA -3'
(R):5'- GGTGCTGTCGTTGTCCCAG -3'
Posted On 2018-06-06