Mutagenetix > Incidental Mutation

Incidental Mutation 'R7831:Ror1'

605605

Institutional Source

Beutler Lab

Gene Symbol

Ror1

Ensembl Gene

ENSMUSG00000035305

Gene Name

receptor tyrosine kinase-like orphan receptor 1

Synonyms

Ntrkr1, 2810404D04Rik

MMRRC Submission

045885-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7831 (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 100298295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 556 (N556S)

Ref Sequence

ENSEMBL: ENSMUSP00000048171 (fasta)

Gene Model

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

AlphaFold

Q9Z139

Predicted Effect

probably benign
Transcript: ENSMUST00000039630
AA Change: N556S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: N556S

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

0.0720

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,247,404 (GRCm39)	V2384I	possibly damaging	Het
Acsl1	A	G	8: 46,972,043 (GRCm39)	D297G	probably benign	Het
Ap2a1	C	A	7: 44,550,436 (GRCm39)	R944L	probably damaging	Het
Apbb1ip	A	G	2: 22,756,933 (GRCm39)	Y398C	probably damaging	Het
Atp8a2	A	T	14: 60,011,202 (GRCm39)	V968D	probably damaging	Het
Becn1	T	C	11: 101,181,279 (GRCm39)	T341A	probably benign	Het
Card11	G	T	5: 140,859,167 (GRCm39)	S1126R	possibly damaging	Het
Ccdc51	T	C	9: 108,921,058 (GRCm39)	L315S	probably damaging	Het
Cdk12	T	C	11: 98,140,653 (GRCm39)	L1298P	unknown	Het
Cep170b	A	T	12: 112,711,234 (GRCm39)	D1538V	probably benign	Het
Cfap52	A	T	11: 67,826,782 (GRCm39)	F348I	possibly damaging	Het
Clip1	A	T	5: 123,751,342 (GRCm39)	M813K		Het
Col19a1	G	A	1: 24,565,563 (GRCm39)	T256I	unknown	Het
Col6a3	A	T	1: 90,724,268 (GRCm39)	C2027*	probably null	Het
Crisp4	A	T	1: 18,199,013 (GRCm39)	N140K	probably benign	Het
Crocc2	G	T	1: 93,143,195 (GRCm39)	A1266S	probably benign	Het
Cyfip2	G	A	11: 46,087,273 (GRCm39)	R1206C	probably damaging	Het
Cyp24a1	T	A	2: 170,327,860 (GRCm39)	M461L	probably damaging	Het
Cyp2a5	C	T	7: 26,534,940 (GRCm39)	T51I	possibly damaging	Het
Cyp2b19	C	T	7: 26,466,565 (GRCm39)	H398Y	possibly damaging	Het
Cyp4a29	G	A	4: 115,107,367 (GRCm39)	V234I	probably benign	Het
Dicer1	T	G	12: 104,675,059 (GRCm39)	K734N	probably damaging	Het
Dnai1	T	C	4: 41,614,695 (GRCm39)		probably null	Het
Entpd3	G	A	9: 120,373,025 (GRCm39)	G14D	probably damaging	Het
Entrep3	G	A	3: 89,091,520 (GRCm39)		probably null	Het
Ermp1	T	C	19: 29,595,367 (GRCm39)	T634A	probably benign	Het
Evc	C	T	5: 37,476,427 (GRCm39)	G374D	probably damaging	Het
Fcgbp	C	A	7: 27,806,404 (GRCm39)	T2124K	probably damaging	Het
Fgf8	G	A	19: 45,730,876 (GRCm39)	P50S	probably benign	Het
Fmnl1	C	T	11: 103,088,999 (GRCm39)	R1074W	unknown	Het
Galnt18	C	T	7: 111,155,665 (GRCm39)	V223M	possibly damaging	Het
Galnt2	A	G	8: 125,058,817 (GRCm39)	N295S	probably benign	Het
Grip1	T	G	10: 119,854,011 (GRCm39)	V600G	probably damaging	Het
Insm2	T	A	12: 55,647,323 (GRCm39)	C356S	probably damaging	Het
Itpr2	T	A	6: 146,193,082 (GRCm39)	I1672F	probably benign	Het
Kdm1b	T	G	13: 47,204,098 (GRCm39)	N76K	probably benign	Het
Khnyn	T	A	14: 56,125,303 (GRCm39)		probably null	Het
Kidins220	C	T	12: 25,111,230 (GRCm39)	A1167V	possibly damaging	Het
Krt40	T	C	11: 99,432,087 (GRCm39)	D208G	probably benign	Het
Lars1	T	A	18: 42,350,627 (GRCm39)	D894V	probably benign	Het
Lmx1a	A	T	1: 167,668,521 (GRCm39)	N266I	probably benign	Het
Mrgprb5	T	A	7: 47,817,997 (GRCm39)	K246M	probably benign	Het
Mrpl2	G	A	17: 46,959,598 (GRCm39)	G176R	possibly damaging	Het
Muc21	T	A	17: 35,929,651 (GRCm39)	T1512S	unknown	Het
Nell1	T	A	7: 49,632,548 (GRCm39)	F60L	possibly damaging	Het
Nnt	G	A	13: 119,506,630 (GRCm39)	A453V	possibly damaging	Het
Opa1	A	G	16: 29,467,755 (GRCm39)	K940R	probably benign	Het
Opn5	A	C	17: 42,891,510 (GRCm39)	I309S	probably null	Het
Or1af1	C	T	2: 37,109,723 (GRCm39)	T74I	probably damaging	Het
Or1r1	A	C	11: 73,875,257 (GRCm39)	M59R	probably damaging	Het
Or2ag15	T	A	7: 106,340,620 (GRCm39)	I174F	probably damaging	Het
P3h3	T	G	6: 124,832,118 (GRCm39)	E256A	possibly damaging	Het
Pald1	G	T	10: 61,191,593 (GRCm39)	T65K	probably damaging	Het
Pcnx3	T	C	19: 5,735,989 (GRCm39)	Y279C	probably damaging	Het
Pik3c2b	G	A	1: 132,998,980 (GRCm39)	S367N	possibly damaging	Het
Pik3cb	T	C	9: 98,970,666 (GRCm39)	T342A	probably benign	Het
Pkd1l3	A	T	8: 110,357,990 (GRCm39)	E837D	possibly damaging	Het
Ppp2r2b	T	A	18: 42,834,597 (GRCm39)	Y191F	probably benign	Het
Ppp4r4	G	A	12: 103,557,080 (GRCm39)	E439K	possibly damaging	Het
Ptprk	A	G	10: 28,444,404 (GRCm39)	I946V	possibly damaging	Het
Ryr3	C	T	2: 112,757,183 (GRCm39)	A391T	possibly damaging	Het
Selp	G	A	1: 163,972,584 (GRCm39)		probably null	Het
Setx	T	C	2: 29,047,120 (GRCm39)	L1866S	probably damaging	Het
Setx	T	A	2: 29,069,866 (GRCm39)	V2557E	possibly damaging	Het
Slc66a3	T	A	12: 17,047,632 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Sorbs3	T	G	14: 70,440,481 (GRCm39)	N89T	possibly damaging	Het
Sorl1	C	A	9: 42,001,257 (GRCm39)	V248L	probably benign	Het
Srebf2	T	A	15: 82,066,288 (GRCm39)	V612E	probably damaging	Het
Sv2c	T	A	13: 96,113,200 (GRCm39)	Y583F	probably damaging	Het
Tada1	G	T	1: 166,217,442 (GRCm39)	R193I	probably damaging	Het
Tnrc6b	C	G	15: 80,764,580 (GRCm39)	A694G	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,711,425 (GRCm39)	G8372D	unknown	Het
Ube2g2	A	G	10: 77,470,576 (GRCm39)	T68A		Het
Ubl7	T	G	9: 57,821,918 (GRCm39)	V89G	possibly damaging	Het
Ush2a	T	A	1: 188,492,038 (GRCm39)	I3109N	probably damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r26	T	A	6: 124,016,758 (GRCm39)	Y407*	probably null	Het
Yod1	G	T	1: 130,646,986 (GRCm39)	V288F	probably damaging	Het
Zbed5	A	C	5: 129,930,798 (GRCm39)	N249T	possibly damaging	Het
Zbtb5	T	C	4: 44,995,244 (GRCm39)	T47A	probably damaging	Het
Zcchc14	T	C	8: 122,331,984 (GRCm39)	T460A	not run	Het
Zfp712	A	C	13: 67,200,483 (GRCm39)		probably null	Het
Zfyve16	A	T	13: 92,658,836 (GRCm39)	H358Q	probably benign	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
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'- ATCTCTACCTCCCAGGCATG -3'
(R):5'- TGCTCTCCAATTAAAATGTTGCGAG -3'

Sequencing Primer
(F):5'- ATGGACCATGCTCAGCTG -3'
(R):5'- CAAGGTCCTTGTGCACGAAG -3'

Posted On

2019-12-20