Incidental Mutation 'R2431:Ror1'
ID 250392
Institutional Source Beutler Lab
Gene Symbol Ror1
Ensembl Gene ENSMUSG00000035305
Gene Name receptor tyrosine kinase-like orphan receptor 1
Synonyms Ntrkr1, 2810404D04Rik
MMRRC Submission 040392-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2431 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 99952988-100301962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100298352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 575 (C575Y)
Ref Sequence ENSEMBL: ENSMUSP00000048171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039630]
AlphaFold Q9Z139
Predicted Effect probably damaging
Transcript: ENSMUST00000039630
AA Change: C575Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: C575Y

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 T C 11: 97,343,230 (GRCm39) V504A probably benign Het
Atr T G 9: 95,744,945 (GRCm39) N87K probably benign Het
Auts2 A T 5: 132,287,887 (GRCm39) L32* probably null Het
Bptf A G 11: 106,938,066 (GRCm39) V2675A possibly damaging Het
Brdt C T 5: 107,525,881 (GRCm39) probably null Het
Ccdc162 T C 10: 41,445,841 (GRCm39) K444E probably benign Het
Cnot1 T C 8: 96,501,280 (GRCm39) D96G probably damaging Het
Cpq C A 15: 33,594,265 (GRCm39) Y425* probably null Het
Eri1 A G 8: 35,943,632 (GRCm39) Y221H probably damaging Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Focad T C 4: 88,249,264 (GRCm39) V837A unknown Het
Ica1 G A 6: 8,658,265 (GRCm39) T284I probably benign Het
Isg15 C T 4: 156,285,158 (GRCm39) probably null Het
Ltbp4 T C 7: 27,019,101 (GRCm39) T1073A possibly damaging Het
Mmp16 A T 4: 18,054,491 (GRCm39) R332S probably benign Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Or2a25 T C 6: 42,888,946 (GRCm39) L163S probably damaging Het
Or2ag19 T C 7: 106,444,598 (GRCm39) V260A possibly damaging Het
Or5b21 T C 19: 12,839,970 (GRCm39) V277A probably damaging Het
Or7g12 A G 9: 18,899,299 (GRCm39) N5S probably damaging Het
Piezo2 T C 18: 63,378,695 (GRCm39) H78R possibly damaging Het
Pkd1l1 T C 11: 8,897,197 (GRCm39) N121D probably damaging Het
Pkhd1 T C 1: 20,271,389 (GRCm39) T3055A possibly damaging Het
Ppp5c C T 7: 16,749,350 (GRCm39) V160M probably damaging Het
Ptpn23 G A 9: 110,215,347 (GRCm39) R1438* probably null Het
Ptpro G A 6: 137,420,583 (GRCm39) W183* probably null Het
Pygm T C 19: 6,443,815 (GRCm39) M592T probably damaging Het
Qdpr A G 5: 45,602,072 (GRCm39) V68A probably damaging Het
Rfc5 A C 5: 117,523,523 (GRCm39) S92A probably damaging Het
Ripor3 T C 2: 167,831,715 (GRCm39) Q362R probably benign Het
Skint9 T A 4: 112,246,464 (GRCm39) D216V probably damaging Het
Sox6 T C 7: 115,149,242 (GRCm39) probably null Het
Ugp2 A T 11: 21,279,025 (GRCm39) V387D probably damaging Het
Umodl1 T C 17: 31,211,062 (GRCm39) S747P possibly damaging Het
Vtcn1 A T 3: 100,732,893 (GRCm39) I7F possibly damaging Het
Zfp507 C T 7: 35,494,827 (GRCm39) R72H probably benign 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
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
R6491:Ror1 UTSW 4 100,267,109 (GRCm39) missense possibly damaging 0.94
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'- GGTGGCTATCAAAACCTTGAAAG -3'
(R):5'- CTCTGGAAAGCCCAAGATCTG -3'

Sequencing Primer
(F):5'- CAGCAGTGGACAGAATTTCAAC -3'
(R):5'- GCCCAAGATCTGAAATTTTTACATGC -3'
Posted On 2014-11-12