Mutagenetix > Incidental Mutation

Incidental Mutation 'R8366:Ror1'

646168

Institutional Source

Beutler Lab

Gene Symbol

Ror1

Ensembl Gene

ENSMUSG00000035305

Gene Name

receptor tyrosine kinase-like orphan receptor 1

Synonyms

Ntrkr1, 2810404D04Rik

MMRRC Submission

067737-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99952988-100301962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100267195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 299 (I299V)

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

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

AlphaFold

Q9Z139

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039630
AA Change: I299V

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: I299V

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,067,521 (GRCm39)	Q590*	probably null	Het
Adnp2	T	C	18: 80,173,725 (GRCm39)	D228G	probably damaging	Het
Adrb2	T	A	18: 62,311,775 (GRCm39)	Y350F	probably benign	Het
Agbl4	T	C	4: 111,423,861 (GRCm39)	S296P	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ampd1	A	T	3: 102,995,810 (GRCm39)	D240V	probably damaging	Het
Armh3	T	C	19: 45,920,793 (GRCm39)	Y468C	probably damaging	Het
Carmil2	A	G	8: 106,419,707 (GRCm39)	S838G	probably benign	Het
Cdh23	A	G	10: 60,160,799 (GRCm39)	F2056L	probably benign	Het
Cyp4x1	A	T	4: 114,970,063 (GRCm39)	S381T	probably benign	Het
Ddx20	A	G	3: 105,594,695 (GRCm39)	S17P	probably benign	Het
Dlgap4	C	A	2: 156,542,694 (GRCm39)	Y32*	probably null	Het
Dmbt1	T	C	7: 130,668,330 (GRCm39)	F529L	unknown	Het
Ei24	A	G	9: 36,697,800 (GRCm39)	S117P	possibly damaging	Het
Esyt1	T	G	10: 128,352,422 (GRCm39)	N730H	possibly damaging	Het
Gcfc2	A	G	6: 81,900,782 (GRCm39)	E32G	probably benign	Het
Lama1	T	C	17: 68,125,699 (GRCm39)	I2952T		Het
Mkrn3	A	T	7: 62,069,543 (GRCm39)	S83T	probably benign	Het
Ncoa2	T	A	1: 13,250,830 (GRCm39)	D284V	probably damaging	Het
Or10w1	A	G	19: 13,631,903 (GRCm39)	S37G	probably damaging	Het
Osmr	T	A	15: 6,850,435 (GRCm39)	T724S	possibly damaging	Het
Pex1	A	G	5: 3,676,007 (GRCm39)	E825G	probably benign	Het
Ranbp6	A	G	19: 29,789,299 (GRCm39)	L351P	probably damaging	Het
Rbm20	C	T	19: 53,838,612 (GRCm39)	T863I	possibly damaging	Het
Rcbtb2	T	C	14: 73,444,632 (GRCm39)	S506P	probably benign	Het
Rdh12	T	A	12: 79,258,288 (GRCm39)	I105N	probably damaging	Het
Rpap3	C	T	15: 97,579,548 (GRCm39)	R488K	probably benign	Het
Rps6kb1	A	C	11: 86,402,655 (GRCm39)	V346G	probably damaging	Het
Setd2	T	C	9: 110,377,816 (GRCm39)	S544P	probably damaging	Het
Sis	A	T	3: 72,865,566 (GRCm39)	V162E	probably damaging	Het
Slc16a10	A	G	10: 39,952,867 (GRCm39)	V209A	probably benign	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
Teddm2	G	T	1: 153,726,575 (GRCm39)	H47N	probably damaging	Het
Tmem74	C	T	15: 43,730,315 (GRCm39)	G243R	probably damaging	Het
Trmt10c	C	T	16: 55,854,426 (GRCm39)	R403Q	probably benign	Het
Vps11	A	T	9: 44,267,052 (GRCm39)	Y394*	probably null	Het
Zscan10	G	T	17: 23,828,952 (GRCm39)	R498L	probably damaging	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
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
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'- TGATAAGTGCTCTCAGTTCGCC -3'
(R):5'- GAAGTTTCGTTGAGGCAATTCTATC -3'

Sequencing Primer
(F):5'- GTACTGTGACGAAACCTCATCTG -3'
(R):5'- GGCAATTCTATCTAATCTACCGCAG -3'

Posted On

2020-09-02