Mutagenetix > Incidental Mutation

Incidental Mutation 'R2127:Ror1'

227596

Institutional Source

Beutler Lab

Gene Symbol

Ror1

Ensembl Gene

ENSMUSG00000035305

Gene Name

receptor tyrosine kinase-like orphan receptor 1

Synonyms

2810404D04Rik, Ntrkr1

MMRRC Submission

040130-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2127 (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 100442093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 888 (M888V)

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

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

AlphaFold

Q9Z139

Predicted Effect

probably benign
Transcript: ENSMUST00000039630
AA Change: M888V

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

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: M888V

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

0.0675

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (93/95)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,504,942 (GRCm38)	S300T	possibly damaging	Het
A2ml1	A	C	6: 128,558,437 (GRCm38)	V770G	probably damaging	Het
Abca6	A	G	11: 110,219,649 (GRCm38)	I558T	probably benign	Het
Abhd17c	C	A	7: 84,110,662 (GRCm38)	G295W	probably damaging	Het
Actn3	G	A	19: 4,871,675 (GRCm38)	A159V	probably damaging	Het
Adgrv1	A	T	13: 81,557,080 (GRCm38)	F1537Y	probably damaging	Het
Agbl1	G	T	7: 76,419,880 (GRCm38)	V373F	possibly damaging	Het
Aldh1a1	A	T	19: 20,642,915 (GRCm38)	E485D	probably benign	Het
Amdhd2	A	G	17: 24,158,308 (GRCm38)		probably null	Het
Armc3	A	G	2: 19,201,811 (GRCm38)	D15G	probably damaging	Het
Atp2b2	A	G	6: 113,760,650 (GRCm38)	L921P	probably damaging	Het
Btbd16	A	G	7: 130,784,308 (GRCm38)	N88S	probably benign	Het
Capn10	T	A	1: 92,938,034 (GRCm38)	C77*	probably null	Het
Caskin1	T	C	17: 24,496,996 (GRCm38)		probably null	Het
Catsper4	T	C	4: 134,213,806 (GRCm38)	D254G	probably benign	Het
Catsperg1	T	C	7: 29,185,040 (GRCm38)	D958G	probably damaging	Het
Ccar2	T	G	14: 70,139,651 (GRCm38)	K787Q	probably benign	Het
Ccdc191	C	T	16: 43,908,635 (GRCm38)	T244I	probably benign	Het
Cd33	A	T	7: 43,530,275 (GRCm38)	L243Q	possibly damaging	Het
Cdc37	T	C	9: 21,149,847 (GRCm38)	Y4C	probably damaging	Het
Cenpe	T	G	3: 135,239,780 (GRCm38)	N1018K	probably benign	Het
Crocc	G	A	4: 141,017,096 (GRCm38)	R1830C	probably damaging	Het
Csmd1	T	C	8: 15,917,392 (GRCm38)	D3157G	probably damaging	Het
Dhx57	C	T	17: 80,273,048 (GRCm38)	V492M	probably damaging	Het
Dnah2	A	T	11: 69,458,185 (GRCm38)	I2486N	probably benign	Het
Dnhd1	C	T	7: 105,693,721 (GRCm38)	T1424I	possibly damaging	Het
Dsc3	C	T	18: 19,968,354 (GRCm38)	A661T	probably benign	Het
F930015N05Rik	A	G	11: 64,435,403 (GRCm38)		probably benign	Het
Fbxo34	C	A	14: 47,530,106 (GRCm38)	R308S	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably benign	Het
Gm11595	A	T	11: 99,772,501 (GRCm38)	C118S	unknown	Het
Gm9742	A	T	13: 8,034,975 (GRCm38)		noncoding transcript	Het
Gmeb2	G	A	2: 181,259,049 (GRCm38)	A185V	probably benign	Het
Gpr15	A	G	16: 58,718,255 (GRCm38)	V157A	possibly damaging	Het
Gpr3	C	T	4: 133,210,621 (GRCm38)	A247T	probably damaging	Het
Grin2b	A	C	6: 135,778,700 (GRCm38)	S539A	probably benign	Het
Hmbs	T	C	9: 44,340,707 (GRCm38)	T92A	probably benign	Het
Inpp4a	A	G	1: 37,366,919 (GRCm38)	M173V	probably benign	Het
Irx4	T	A	13: 73,265,476 (GRCm38)	S22T	probably benign	Het
Jph3	C	T	8: 121,785,142 (GRCm38)	A623V	probably benign	Het
Kif1b	G	A	4: 149,187,640 (GRCm38)	S1568L	possibly damaging	Het
Ksr1	G	A	11: 79,033,313 (GRCm38)	S361L	probably damaging	Het
Lyst	T	G	13: 13,635,262 (GRCm38)	Y506D	probably damaging	Het
Mctp1	A	G	13: 76,824,822 (GRCm38)	D648G	probably damaging	Het
Megf8	T	C	7: 25,364,582 (GRCm38)	S2788P	possibly damaging	Het
Mfsd2b	T	A	12: 4,867,659 (GRCm38)	Y129F	probably benign	Het
Mindy4	T	C	6: 55,218,265 (GRCm38)	S155P	probably benign	Het
Mospd4	A	G	18: 46,465,664 (GRCm38)		noncoding transcript	Het
Myo18b	A	T	5: 112,831,078 (GRCm38)	L1223Q	probably damaging	Het
Nckipsd	A	G	9: 108,811,733 (GRCm38)	T156A	probably benign	Het
Ndst1	G	A	18: 60,691,208 (GRCm38)	T799I	probably benign	Het
Npffr2	A	T	5: 89,568,065 (GRCm38)	I84F	probably damaging	Het
Nphp3	G	A	9: 104,008,243 (GRCm38)	V167M	probably damaging	Het
Nup107	C	A	10: 117,774,475 (GRCm38)	R354L	possibly damaging	Het
Olfml2a	T	C	2: 38,941,687 (GRCm38)	C93R	probably damaging	Het
Or12e10	A	G	2: 87,810,341 (GRCm38)	I174V	probably benign	Het
Or1e25	C	G	11: 73,602,805 (GRCm38)	S75C	possibly damaging	Het
Or5l14	A	T	2: 87,962,832 (GRCm38)	V20D	probably benign	Het
Pappa	T	A	4: 65,297,257 (GRCm38)	L1134M	probably damaging	Het
Plscr4	T	G	9: 92,488,630 (GRCm38)	F217V	possibly damaging	Het
Pnpla8	T	A	12: 44,308,057 (GRCm38)	Y667N	probably benign	Het
Polg	A	G	7: 79,464,928 (GRCm38)	L95P	probably damaging	Het
Psg20	T	G	7: 18,682,718 (GRCm38)	I158L	probably damaging	Het
Pwwp2a	A	G	11: 43,705,318 (GRCm38)	S437G	probably benign	Het
Rdx	A	G	9: 52,069,732 (GRCm38)	M305V	possibly damaging	Het
Rinl	A	G	7: 28,796,743 (GRCm38)	E383G	probably damaging	Het
Rps12	A	T	10: 23,786,878 (GRCm38)	I22K	possibly damaging	Het
Rtca	C	A	3: 116,497,674 (GRCm38)	R219L	possibly damaging	Het
Ryr2	G	A	13: 11,712,195 (GRCm38)	P2427S	probably damaging	Het
Slc10a6	A	G	5: 103,609,056 (GRCm38)	Y281H	probably benign	Het
Slc39a11	A	G	11: 113,369,803 (GRCm38)	S176P	probably benign	Het
Slfn10-ps	A	G	11: 83,030,342 (GRCm38)		noncoding transcript	Het
Spef2	T	C	15: 9,729,661 (GRCm38)	T124A	possibly damaging	Het
Sult2a4	G	T	7: 13,915,260 (GRCm38)	P207Q	probably damaging	Het
Tas1r3	G	A	4: 155,860,470 (GRCm38)	R765C	probably damaging	Het
Tcstv1	T	C	13: 119,893,746 (GRCm38)	T117A	probably damaging	Het
Tha1	A	G	11: 117,869,774 (GRCm38)	V208A	probably damaging	Het
Tmbim4	T	A	10: 120,224,753 (GRCm38)	I215N	probably damaging	Het
Tmem202	T	A	9: 59,520,200 (GRCm38)	I122F	probably benign	Het
Tomm70a	T	C	16: 57,121,871 (GRCm38)	S4P	unknown	Het
Tpcn2	A	G	7: 145,273,975 (GRCm38)		probably benign	Het
Trim36	A	T	18: 46,212,337 (GRCm38)	F10I	probably benign	Het
Usp30	A	G	5: 114,111,163 (GRCm38)	E176G	probably damaging	Het
Usp8	T	G	2: 126,737,575 (GRCm38)		probably null	Het
Vmn1r32	T	A	6: 66,553,549 (GRCm38)	Y81F	probably benign	Het
Vps36	G	T	8: 22,218,289 (GRCm38)		probably null	Het
Wdr87-ps	T	C	7: 29,537,140 (GRCm38)		noncoding transcript	Het
Wnt3	A	G	11: 103,812,648 (GRCm38)	H319R	possibly damaging	Het
Zfp319	A	T	8: 95,323,763 (GRCm38)		probably benign	Het
Zfp408	T	C	2: 91,645,174 (GRCm38)	E545G	probably damaging	Het
Zfp799	C	T	17: 32,819,498 (GRCm38)	R598Q	possibly damaging	Het
Zfp831	T	C	2: 174,648,124 (GRCm38)	V1228A	probably benign	Het
Zfp938	T	C	10: 82,226,042 (GRCm38)	D248G	probably benign	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
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
R4863:Ror1	UTSW	4	100,409,804 (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'- GCGCTTCATCCCCATCAATG -3'
(R):5'- CGGGAGAGTGTATTTACAAAAGTC -3'

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

Posted On

2014-09-17