Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00838:Ror1'

13852

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ror1

Ensembl Gene

ENSMUSG00000035305

Gene Name

receptor tyrosine kinase-like orphan receptor 1

Synonyms

Ntrkr1, 2810404D04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00838

Quality Score

Status

Chromosome

Chromosomal Location

99952988-100301962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100190940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 99 (V99G)

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

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

AlphaFold

Q9Z139

Predicted Effect

probably damaging
Transcript: ENSMUST00000039630
AA Change: V99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: V99G

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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	C	A	1: 93,330,479 (GRCm39)	N834K	possibly damaging	Het
Armc10	T	A	5: 21,866,579 (GRCm39)	V281E	probably damaging	Het
Baat	A	T	4: 49,490,352 (GRCm39)	M244K	probably damaging	Het
Cryz	T	A	3: 154,324,112 (GRCm39)	C166S	probably damaging	Het
D430041D05Rik	T	A	2: 104,031,648 (GRCm39)	K1649N	probably damaging	Het
Dennd5b	T	C	6: 148,906,861 (GRCm39)		probably benign	Het
Dock8	A	T	19: 25,152,823 (GRCm39)	R1630*	probably null	Het
Gstm5	A	G	3: 107,804,874 (GRCm39)	N122S	probably benign	Het
Klra5	C	A	6: 129,888,322 (GRCm39)	G35C	possibly damaging	Het
Klrb1f	G	A	6: 129,031,279 (GRCm39)	V159I	possibly damaging	Het
Mgl2	A	T	11: 70,025,038 (GRCm39)	M14L	probably benign	Het
Mob1a	C	T	6: 83,315,313 (GRCm39)	R78C	possibly damaging	Het
Pigo	C	T	4: 43,021,767 (GRCm39)	A392T	possibly damaging	Het
Polr3a	A	T	14: 24,525,931 (GRCm39)	N436K	probably benign	Het
Prokr1	T	C	6: 87,565,675 (GRCm39)	T57A	possibly damaging	Het
Ryr2	A	T	13: 11,583,389 (GRCm39)	I4755N	probably damaging	Het
Senp5	T	C	16: 31,807,991 (GRCm39)	D394G	probably damaging	Het
Skic3	T	C	13: 76,282,910 (GRCm39)	L744P	probably damaging	Het
Speg	A	G	1: 75,387,034 (GRCm39)	I1318V	possibly damaging	Het
Syt6	T	A	3: 103,532,942 (GRCm39)	M357K	probably damaging	Het
Tex11	A	T	X: 100,015,724 (GRCm39)	I328N	possibly damaging	Het
Vnn1	T	C	10: 23,776,677 (GRCm39)	F343L	possibly damaging	Het
Wdr72	A	T	9: 74,062,411 (GRCm39)	E519V	probably damaging	Het

Other mutations in Ror1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06