Mutagenetix > Incidental Mutation

Incidental Mutation 'R1034:Ror1'

95385

Institutional Source

Beutler Lab

Gene Symbol

Ror1

Ensembl Gene

ENSMUSG00000035305

Gene Name

receptor tyrosine kinase-like orphan receptor 1

Synonyms

Ntrkr1, 2810404D04Rik

MMRRC Submission

039133-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1034 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99952988-100301962 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 100190817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 58 (L58*)

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039630]

AlphaFold

Q9Z139

Predicted Effect

probably null
Transcript: ENSMUST00000039630
AA Change: L58*

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: L58*

Domain	Start	End	E-Value	Type
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: 98.7%
3x: 97.3%
10x: 92.9%
20x: 82.2%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Abca14	T	C	7: 119,815,370 (GRCm39)	F206S	probably damaging	Het
Arid2	T	C	15: 96,267,386 (GRCm39)	V622A	probably benign	Het
Asic1	T	A	15: 99,595,939 (GRCm39)	L437Q	probably damaging	Het
Atp1b1	C	T	1: 164,281,057 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,234 (GRCm39)	Y151C	probably damaging	Het
Cbx4	A	G	11: 118,972,533 (GRCm39)	S281P	probably damaging	Het
Dnah5	G	A	15: 28,302,617 (GRCm39)	V1625I	probably damaging	Het
Eftud2	A	C	11: 102,740,010 (GRCm39)	D461E	probably benign	Het
Epgn	A	G	5: 91,180,080 (GRCm39)	Y74C	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fgf14	C	T	14: 124,369,946 (GRCm39)	V113I	probably damaging	Het
Ggcx	G	A	6: 72,391,814 (GRCm39)	R68H	probably damaging	Het
Gm1110	A	G	9: 26,832,646 (GRCm39)	S16P	probably damaging	Het
Gm6729	T	C	10: 86,375,890 (GRCm39)		noncoding transcript	Het
Gpr108	A	G	17: 57,542,995 (GRCm39)	F522S	probably damaging	Het
Gpr156	T	C	16: 37,825,088 (GRCm39)	V435A	probably benign	Het
Khdrbs2	T	C	1: 32,506,872 (GRCm39)	L172P	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Ltn1	A	T	16: 87,194,025 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,329,165 (GRCm39)	Y2194*	probably null	Het
Or6c8	T	A	10: 128,915,830 (GRCm39)	M1L	probably benign	Het
Or7d11	A	T	9: 19,966,661 (GRCm39)	S33T	probably benign	Het
Rab6b	T	C	9: 103,044,323 (GRCm39)	S172P	probably benign	Het
Sec23b	A	G	2: 144,432,258 (GRCm39)	D756G	possibly damaging	Het
Slc24a2	T	A	4: 86,950,512 (GRCm39)	K428N	probably damaging	Het
Spen	C	A	4: 141,203,063 (GRCm39)	V1855L	probably benign	Het
Srgap1	G	A	10: 121,621,350 (GRCm39)	P1071S	possibly damaging	Het
Tns1	A	G	1: 73,981,128 (GRCm39)	C1079R	probably damaging	Het
Traf3ip1	G	T	1: 91,446,041 (GRCm39)		probably null	Het
Trmt2a	T	C	16: 18,067,573 (GRCm39)	F82S	probably damaging	Het
Xrn1	A	G	9: 95,921,790 (GRCm39)	D1401G	probably damaging	Het
Zfp352	T	A	4: 90,112,393 (GRCm39)	S178T	possibly damaging	Het
Zfp758	G	T	17: 22,594,740 (GRCm39)	E409*	probably null	Het

Other mutations in Ror1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ATGGACTCAGGTGAACACGTAGGC -3'
(R):5'- GGTGTCAAGGTTTCTAATCCGCAGC -3'

Sequencing Primer
(F):5'- GGTCAGCCCACTCTTCTG -3'
(R):5'- TTTCTAATCCGCAGCCGAGAG -3'

Posted On

2014-01-05