Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Ror1'

374630

Institutional Source

Beutler Lab

Gene Symbol

Ror1

Ensembl Gene

ENSMUSG00000035305

Gene Name

receptor tyrosine kinase-like orphan receptor 1

Synonyms

2810404D04Rik, Ntrkr1

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100095791-100444765 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100409804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 234 (Y234C)

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

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

AlphaFold

Q9Z139

Predicted Effect

probably damaging
Transcript: ENSMUST00000039630
AA Change: Y234C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: Y234C

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

Meta Mutation Damage Score

0.4844

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,512 (GRCm38)		probably null	Het
4930578I06Rik	C	T	14: 63,973,209 (GRCm38)	R190H	probably benign	Het
A530032D15Rik	C	T	1: 85,088,800 (GRCm38)		probably benign	Het
Abcc12	T	A	8: 86,538,376 (GRCm38)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm38)	W384L	probably damaging	Het
Acvr1	A	G	2: 58,477,711 (GRCm38)	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,784,316 (GRCm38)	M238K	probably benign	Het
BC005561	A	T	5: 104,517,750 (GRCm38)	D46V	possibly damaging	Het
Cd3eap	T	A	7: 19,357,759 (GRCm38)	Q141L	probably damaging	Het
Clmn	A	T	12: 104,797,094 (GRCm38)	I91N	probably damaging	Het
Cog8	A	T	8: 107,050,174 (GRCm38)	L523H	probably damaging	Het
Cpxm2	T	A	7: 132,059,747 (GRCm38)	K437M	probably benign	Het
Dhx57	A	T	17: 80,253,111 (GRCm38)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,309,230 (GRCm38)		probably benign	Het
Dok3	G	A	13: 55,523,457 (GRCm38)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,784,343 (GRCm38)	H275Y	probably benign	Het
Ednra	A	T	8: 77,667,383 (GRCm38)	N361K	probably damaging	Het
Ei24	A	T	9: 36,784,565 (GRCm38)	S210R	probably damaging	Het
Erich3	T	A	3: 154,764,804 (GRCm38)	V158E	unknown	Het
Fam193a	T	A	5: 34,466,205 (GRCm38)	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,808,828 (GRCm38)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 28,086,344 (GRCm38)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,585,945 (GRCm38)		probably benign	Het
Fnip1	G	A	11: 54,515,556 (GRCm38)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,552,964 (GRCm38)	K289R	probably null	Het
Fuca2	A	T	10: 13,505,907 (GRCm38)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,810,970 (GRCm38)	V116A	probably benign	Het
Gm10770	T	A	2: 150,178,896 (GRCm38)	K234*	probably null	Het
Gm9887	A	G	12: 69,371,989 (GRCm38)		probably benign	Het
Gtf3c2	A	G	5: 31,159,233 (GRCm38)		probably benign	Het
H2-M10.3	T	C	17: 36,366,636 (GRCm38)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,084,492 (GRCm38)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,038,029 (GRCm38)	A611V	probably damaging	Het
Hr	T	C	14: 70,571,972 (GRCm38)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,609,416 (GRCm38)	S388P	probably damaging	Het
Itga3	T	A	11: 95,061,967 (GRCm38)	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,665,520 (GRCm38)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,401,946 (GRCm38)	S132P	probably damaging	Het
Lama3	T	C	18: 12,498,678 (GRCm38)		probably benign	Het
Lama3	C	T	18: 12,539,793 (GRCm38)	A2481V	probably damaging	Het
Lce1e	A	T	3: 92,707,871 (GRCm38)	C56*	probably null	Het
Lmcd1	T	C	6: 112,287,871 (GRCm38)		probably benign	Het
Lrrc14	T	A	15: 76,713,362 (GRCm38)		probably null	Het
Map4k5	G	A	12: 69,818,438 (GRCm38)	P591L	probably benign	Het
Mapk13	C	A	17: 28,776,310 (GRCm38)	D168E	probably damaging	Het
Marf1	A	C	16: 14,132,665 (GRCm38)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,254,281 (GRCm38)		probably null	Het
Mical3	T	C	6: 121,033,787 (GRCm38)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,217,507 (GRCm38)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,808,130 (GRCm38)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,750,423 (GRCm38)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,392,638 (GRCm38)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,409,409 (GRCm38)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 20,049,596 (GRCm38)		probably null	Het
Nxpe3	A	T	16: 55,849,633 (GRCm38)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,341,568 (GRCm38)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,499,108 (GRCm38)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,768,281 (GRCm38)	L722P	probably benign	Het
Pde6a	A	T	18: 61,245,592 (GRCm38)	I329F	probably damaging	Het
Pdpr	T	A	8: 111,101,951 (GRCm38)	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,486,312 (GRCm38)	D173G	probably benign	Het
Plcd4	A	G	1: 74,565,802 (GRCm38)		probably null	Het
Pou2f2	A	G	7: 25,097,108 (GRCm38)		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,366,702 (GRCm38)		probably benign	Het
Ppp1r42	T	C	1: 10,003,386 (GRCm38)		probably benign	Het
Ptpre	C	T	7: 135,669,132 (GRCm38)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,498,108 (GRCm38)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,470 (GRCm38)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,492,421 (GRCm38)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,103,911 (GRCm38)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,089,139 (GRCm38)	M438V	probably benign	Het
Recql	T	G	6: 142,359,006 (GRCm38)		probably benign	Het
Rftn2	A	G	1: 55,172,039 (GRCm38)	V425A	probably benign	Het
Sap30l	T	A	11: 57,806,054 (GRCm38)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,320,002 (GRCm38)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,690,980 (GRCm38)	I268R	probably damaging	Het
Sin3b	G	A	8: 72,744,948 (GRCm38)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,412,654 (GRCm38)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,432,328 (GRCm38)	N481S	probably damaging	Het
Sos2	G	A	12: 69,640,154 (GRCm38)	T206I	probably benign	Het
Sp100	G	T	1: 85,705,003 (GRCm38)	A132S	probably benign	Het
Spata31d1c	T	A	13: 65,035,790 (GRCm38)	L382*	probably null	Het
Stard9	T	A	2: 120,700,860 (GRCm38)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,435,390 (GRCm38)	T286A	probably benign	Het
Tedc2	T	A	17: 24,217,936 (GRCm38)	K275M	probably damaging	Het
Ten1	A	T	11: 116,218,231 (GRCm38)	K242N	probably benign	Het
Tial1	C	T	7: 128,455,028 (GRCm38)	V1I	probably damaging	Het
Tle2	G	A	10: 81,588,891 (GRCm38)	R649H	possibly damaging	Het
Tmem178	A	G	17: 80,944,945 (GRCm38)	D86G	probably benign	Het
Trim29	T	A	9: 43,329,575 (GRCm38)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 42,300,708 (GRCm38)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,750,598 (GRCm38)	Q414H	possibly damaging	Het
Yars	A	T	4: 129,189,882 (GRCm38)		probably benign	Het
Yipf4	A	G	17: 74,494,092 (GRCm38)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,645,866 (GRCm38)		probably benign	Het
Zfp426	T	C	9: 20,470,038 (GRCm38)	Y536C	probably damaging	Het
Zp2	T	G	7: 120,135,772 (GRCm38)	Y430S	probably damaging	Het

Other mutations in Ror1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Ror1	APN	4	100,333,743 (GRCm38)	missense	probably damaging	1.00
IGL00939:Ror1	APN	4	100,441,226 (GRCm38)	missense	probably benign	0.01
IGL01408:Ror1	APN	4	100,333,787 (GRCm38)	missense	probably damaging	1.00
IGL01678:Ror1	APN	4	100,425,968 (GRCm38)	missense	possibly damaging	0.68
IGL01700:Ror1	APN	4	100,409,771 (GRCm38)	missense	probably damaging	1.00
IGL01985:Ror1	APN	4	100,425,964 (GRCm38)	missense	possibly damaging	0.94
IGL02002:Ror1	APN	4	100,441,184 (GRCm38)	missense	probably damaging	1.00
IGL02634:Ror1	APN	4	100,426,110 (GRCm38)	missense	probably benign	0.00
IGL02995:Ror1	APN	4	100,334,525 (GRCm38)	splice site	probably benign
IGL03033:Ror1	APN	4	100,411,895 (GRCm38)	missense	possibly damaging	0.67
IGL03207:Ror1	APN	4	100,407,945 (GRCm38)	splice site	probably null
F5770:Ror1	UTSW	4	100,440,933 (GRCm38)	missense	probably damaging	0.99
R0256:Ror1	UTSW	4	100,409,745 (GRCm38)	missense	probably benign	0.20
R0417:Ror1	UTSW	4	100,412,000 (GRCm38)	missense	possibly damaging	0.94
R0525:Ror1	UTSW	4	100,441,520 (GRCm38)	missense	probably damaging	1.00
R1034:Ror1	UTSW	4	100,333,620 (GRCm38)	nonsense	probably null
R1278:Ror1	UTSW	4	100,441,878 (GRCm38)	missense	possibly damaging	0.69
R1368:Ror1	UTSW	4	100,441,137 (GRCm38)	missense	possibly damaging	0.94
R1437:Ror1	UTSW	4	100,412,109 (GRCm38)	missense	probably benign
R1441:Ror1	UTSW	4	100,440,983 (GRCm38)	missense	probably benign
R1544:Ror1	UTSW	4	100,441,986 (GRCm38)	missense	probably damaging	1.00
R1717:Ror1	UTSW	4	100,302,938 (GRCm38)	missense	probably benign
R1857:Ror1	UTSW	4	100,441,503 (GRCm38)	missense	probably damaging	1.00
R2018:Ror1	UTSW	4	100,407,841 (GRCm38)	nonsense	probably null
R2051:Ror1	UTSW	4	100,407,868 (GRCm38)	nonsense	probably null
R2127:Ror1	UTSW	4	100,442,093 (GRCm38)	missense	probably benign
R2132:Ror1	UTSW	4	100,410,025 (GRCm38)	missense	probably benign	0.35
R2133:Ror1	UTSW	4	100,410,025 (GRCm38)	missense	probably benign	0.35
R2176:Ror1	UTSW	4	100,441,874 (GRCm38)	missense	probably damaging	0.99
R2431:Ror1	UTSW	4	100,441,155 (GRCm38)	missense	probably damaging	1.00
R2896:Ror1	UTSW	4	100,096,280 (GRCm38)	missense	unknown
R3005:Ror1	UTSW	4	100,441,764 (GRCm38)	missense	probably damaging	0.99
R3780:Ror1	UTSW	4	100,412,117 (GRCm38)	missense	probably benign	0.34
R3850:Ror1	UTSW	4	100,442,160 (GRCm38)	missense	possibly damaging	0.90
R3861:Ror1	UTSW	4	100,407,923 (GRCm38)	missense	possibly damaging	0.46
R4599:Ror1	UTSW	4	100,407,910 (GRCm38)	missense	probably damaging	0.99
R4871:Ror1	UTSW	4	100,425,998 (GRCm38)	missense	probably benign
R4990:Ror1	UTSW	4	100,441,964 (GRCm38)	missense	probably benign
R5023:Ror1	UTSW	4	100,425,932 (GRCm38)	missense	probably benign	0.01
R5028:Ror1	UTSW	4	100,411,936 (GRCm38)	missense	possibly damaging	0.67
R5079:Ror1	UTSW	4	100,441,422 (GRCm38)	missense	probably damaging	1.00
R5294:Ror1	UTSW	4	100,425,938 (GRCm38)	missense	probably benign	0.00
R5538:Ror1	UTSW	4	100,441,011 (GRCm38)	missense	probably benign
R6339:Ror1	UTSW	4	100,411,931 (GRCm38)	missense	possibly damaging	0.91
R6491:Ror1	UTSW	4	100,409,912 (GRCm38)	missense	possibly damaging	0.94
R6632:Ror1	UTSW	4	100,442,106 (GRCm38)	missense	probably benign
R6733:Ror1	UTSW	4	100,426,055 (GRCm38)	missense	probably benign
R7022:Ror1	UTSW	4	100,407,911 (GRCm38)	missense	probably damaging	1.00
R7054:Ror1	UTSW	4	100,442,239 (GRCm38)	missense	probably benign	0.00
R7121:Ror1	UTSW	4	100,302,945 (GRCm38)	missense	probably benign	0.00
R7350:Ror1	UTSW	4	100,425,943 (GRCm38)	missense	probably benign	0.00
R7492:Ror1	UTSW	4	100,441,059 (GRCm38)	missense	probably benign	0.22
R7502:Ror1	UTSW	4	100,333,630 (GRCm38)	missense	probably benign	0.03
R7531:Ror1	UTSW	4	100,441,191 (GRCm38)	missense	probably damaging	1.00
R7661:Ror1	UTSW	4	100,441,490 (GRCm38)	missense	probably damaging	1.00
R7822:Ror1	UTSW	4	100,441,367 (GRCm38)	missense	probably damaging	1.00
R7831:Ror1	UTSW	4	100,441,098 (GRCm38)	missense	probably benign	0.01
R8366:Ror1	UTSW	4	100,409,998 (GRCm38)	missense	possibly damaging	0.91
R8539:Ror1	UTSW	4	100,441,887 (GRCm38)	missense	possibly damaging	0.71
R8757:Ror1	UTSW	4	100,440,883 (GRCm38)	missense	probably benign	0.01
R8862:Ror1	UTSW	4	100,334,518 (GRCm38)	critical splice donor site	probably null
R8913:Ror1	UTSW	4	100,407,830 (GRCm38)	missense	possibly damaging	0.89
R9382:Ror1	UTSW	4	100,334,512 (GRCm38)	missense	probably benign	0.00
V7580:Ror1	UTSW	4	100,440,933 (GRCm38)	missense	probably damaging	0.99
V7583:Ror1	UTSW	4	100,440,933 (GRCm38)	missense	probably damaging	0.99
X0020:Ror1	UTSW	4	100,426,090 (GRCm38)	missense	probably benign	0.02
Z1177:Ror1	UTSW	4	100,302,919 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAATGAATCTCCTTCCCTTGGC -3'
(R):5'- CCAATCCGTATGCAGTTTGC -3'

Sequencing Primer
(F):5'- GCTTCAGCCCAGCAGATTC -3'
(R):5'- GCAGTTTGCAGCTTCCGG -3'

Posted On

2016-03-17