Mutagenetix > Incidental Mutation

Incidental Mutation 'R6632:Ror1'

525205

Institutional Source

Beutler Lab

Gene Symbol

Ror1

Ensembl Gene

ENSMUSG00000035305

Gene Name

receptor tyrosine kinase-like orphan receptor 1

Synonyms

Ntrkr1, 2810404D04Rik

MMRRC Submission

044754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99952988-100301962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100299303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 892 (N892S)

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

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

AlphaFold

Q9Z139

Predicted Effect

probably benign
Transcript: ENSMUST00000039630
AA Change: N892S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: N892S

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (38/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,429,186 (GRCm39)	S758P	possibly damaging	Het
Abca3	C	G	17: 24,603,444 (GRCm39)	D545E	probably benign	Het
Akap9	T	A	5: 4,063,842 (GRCm39)		probably null	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Arpp21	G	A	9: 111,956,424 (GRCm39)	Q518*	probably null	Het
Atp9b	G	A	18: 80,851,864 (GRCm39)	R410W	probably damaging	Het
Cacna2d3	T	C	14: 28,627,222 (GRCm39)	*265W	probably null	Het
Ccdc96	G	A	5: 36,642,533 (GRCm39)	E180K	probably benign	Het
Cep164	T	C	9: 45,691,088 (GRCm39)	K1231E	possibly damaging	Het
Cnot1	A	G	8: 96,499,895 (GRCm39)		probably benign	Het
Cpne2	T	C	8: 95,281,583 (GRCm39)	V206A	probably benign	Het
Dchs1	A	G	7: 105,411,085 (GRCm39)	Y1647H	probably damaging	Het
Dnaaf5	A	G	5: 139,156,088 (GRCm39)	T590A	probably benign	Het
Eif4g1	A	T	16: 20,504,270 (GRCm39)	I1068F	probably damaging	Het
Ephb4	A	T	5: 137,364,849 (GRCm39)	K639N	probably damaging	Het
Gcc2	A	G	10: 58,105,871 (GRCm39)		probably null	Het
Gm35315	A	C	5: 110,227,129 (GRCm39)	Y103*	probably null	Het
Hsd17b4	A	G	18: 50,312,169 (GRCm39)	K578R	possibly damaging	Het
Ice2	T	C	9: 69,335,734 (GRCm39)	S906P	probably benign	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp1b	A	T	2: 40,615,454 (GRCm39)	W3650R	probably benign	Het
Mcoln3	C	T	3: 145,833,942 (GRCm39)	H161Y	probably benign	Het
Mphosph10	A	T	7: 64,035,567 (GRCm39)	M368K	probably damaging	Het
Msh2	A	C	17: 88,020,094 (GRCm39)	K567Q	possibly damaging	Het
N4bp3	T	C	11: 51,534,776 (GRCm39)	E429G	possibly damaging	Het
Nrxn3	G	A	12: 89,159,924 (GRCm39)	A17T	probably damaging	Het
Or2aj6	T	C	16: 19,443,773 (GRCm39)	T26A	probably benign	Het
Or5b106	T	A	19: 13,123,552 (GRCm39)	Y157F	probably benign	Het
P4ha2	G	T	11: 54,008,474 (GRCm39)	R227L	probably benign	Het
Pfkfb4	G	A	9: 108,838,630 (GRCm39)		probably null	Het
Scn9a	G	T	2: 66,313,846 (GRCm39)	D1957E	probably benign	Het
Sec24a	A	T	11: 51,604,476 (GRCm39)	Y713*	probably null	Het
Serpinb1b	T	A	13: 33,271,438 (GRCm39)	F70I	probably damaging	Het
Setdb1	T	C	3: 95,231,460 (GRCm39)	Y1284C	probably damaging	Het
Suco	A	T	1: 161,655,809 (GRCm39)	M1030K	possibly damaging	Het
Syne1	A	T	10: 5,165,667 (GRCm39)		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
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
R6491:Ror1	UTSW	4	100,267,109 (GRCm39)	missense	possibly damaging	0.94
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'- GCGCTTCATCCCCATCAATG -3'
(R):5'- CGGGAGAGTGTATTTACAAAAGTC -3'

Sequencing Primer
(F):5'- GGATACCCAATACCTCCTGGCTATG -3'
(R):5'- AGTCACACATTTTTACACTTCTGCAG -3'

Posted On

2018-06-22