Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Lrrc66'

560290

Institutional Source

Beutler Lab

Gene Symbol

Lrrc66

Ensembl Gene

ENSMUSG00000067206

Gene Name

leucine rich repeat containing 66

Synonyms

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73763985-73789771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73787240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 37 (Q37K)

Ref Sequence

ENSEMBL: ENSMUSP00000084423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081170] [ENSMUST00000087177] [ENSMUST00000152215]

AlphaFold

Q8K0B3

Predicted Effect

probably benign
Transcript: ENSMUST00000081170

SMART Domains

Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	56	305	4.3e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087177
AA Change: Q37K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084423
Gene: ENSMUSG00000067206
AA Change: Q37K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRR	140	162	1.81e1	SMART
LRR_TYP	163	186	9.44e-2	SMART
LRR	187	210	1.26e2	SMART
LRR	211	234	4.84e1	SMART
low complexity region	298	309	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	842	859	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152215
AA Change: Q37K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120280
Gene: ENSMUSG00000067206
AA Change: Q37K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC

Meta Mutation Damage Score

0.1275

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

Allele List at MGI

All alleles(2) : Targeted, other(1) Gene trapped(1)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,300 (GRCm39)	T903A	probably benign	Het
Acin1	A	T	14: 54,902,356 (GRCm39)	S479T	possibly damaging	Het
Actr6	A	T	10: 89,548,374 (GRCm39)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,872,069 (GRCm39)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,814,546 (GRCm39)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,250,166 (GRCm39)	Q306*	probably null	Het
Art4	A	T	6: 136,831,547 (GRCm39)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm39)	R686W	probably damaging	Het
Atg7	A	G	6: 114,754,018 (GRCm39)	H724R	probably damaging	Het
BC034090	A	G	1: 155,117,680 (GRCm39)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,613,639 (GRCm39)	Q45L	probably damaging	Het
Bmal1	T	A	7: 112,884,349 (GRCm39)	M122K	probably damaging	Het
Cd28	G	T	1: 60,802,332 (GRCm39)	E84*	probably null	Het
Ceacam3	G	A	7: 16,892,163 (GRCm39)	W302*	probably null	Het
Cerkl	T	C	2: 79,163,934 (GRCm39)	N462S	probably benign	Het
Cisd2	A	T	3: 135,116,974 (GRCm39)	L39H	probably damaging	Het
Col11a1	C	A	3: 113,883,806 (GRCm39)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm39)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,192,991 (GRCm39)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,390,220 (GRCm39)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,928,257 (GRCm39)	S263A	probably benign	Het
Cyp3a25	T	A	5: 145,939,868 (GRCm39)	L46F	probably benign	Het
Dmrta1	T	A	4: 89,580,408 (GRCm39)	L456*	probably null	Het
Dnah12	T	C	14: 26,536,579 (GRCm39)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,461,368 (GRCm39)	S253R	probably damaging	Het
Egln2	A	C	7: 26,859,744 (GRCm39)	I323S	probably damaging	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,790,966 (GRCm39)	Q276K	probably benign	Het
Fcrl2	C	T	3: 87,159,934 (GRCm39)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 52,963,666 (GRCm39)	V266A	unknown	Het
Glo1	A	T	17: 30,816,828 (GRCm39)	D109E	probably benign	Het
Grin3b	A	G	10: 79,809,912 (GRCm39)	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015 (GRCm39)	L425F	probably damaging	Het
Iho1	A	T	9: 108,281,974 (GRCm39)	D571E	probably damaging	Het
Ilrun	A	C	17: 28,013,044 (GRCm39)		probably null	Het
Kcnq5	T	C	1: 21,473,099 (GRCm39)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,850,306 (GRCm39)	I48K	possibly damaging	Het
Ly6a	T	A	15: 74,868,325 (GRCm39)	T55S	probably benign	Het
Lyst	T	A	13: 13,883,885 (GRCm39)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,522,177 (GRCm39)	Y140H	probably benign	Het
Mak	T	C	13: 41,204,916 (GRCm39)	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,379,998 (GRCm39)	I789T	probably benign	Het
Mgat4f	A	G	1: 134,318,206 (GRCm39)	D326G	possibly damaging	Het
Mrpl4	T	C	9: 20,918,634 (GRCm39)	I123T	probably benign	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Myef2	T	C	2: 124,938,082 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,228,402 (GRCm39)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,863,325 (GRCm39)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,807,877 (GRCm39)	Y85*	probably null	Het
Nyap1	A	T	5: 137,734,524 (GRCm39)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,887 (GRCm39)		probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,553 (GRCm39)	Y157H	probably damaging	Het
Or1e32	A	G	11: 73,705,167 (GRCm39)	V247A	probably benign	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Papss1	T	C	3: 131,305,687 (GRCm39)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,433,844 (GRCm39)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,942,177 (GRCm39)	M1K	probably null	Het
Ppwd1	G	A	13: 104,343,680 (GRCm39)	P575L	probably damaging	Het
Pramel17	T	A	4: 101,695,338 (GRCm39)		probably null	Het
Prc1	A	G	7: 79,960,837 (GRCm39)	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,227,602 (GRCm39)	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,516,667 (GRCm39)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 184,999,388 (GRCm39)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,335,626 (GRCm39)	Q539*	probably null	Het
Rps12	A	G	10: 23,661,129 (GRCm39)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,679,079 (GRCm39)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,609,664 (GRCm39)	P294L	probably benign	Het
Slc6a2	T	C	8: 93,722,300 (GRCm39)	Y516H	probably damaging	Het
Slit2	A	G	5: 48,394,627 (GRCm39)	N673S	probably null	Het
Snap91	A	T	9: 86,672,199 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,127,461 (GRCm39)	M1850V	probably benign	Het
Srpk2	A	G	5: 23,712,626 (GRCm39)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,016,213 (GRCm39)	S824T	probably benign	Het
Taar7a	A	G	10: 23,868,358 (GRCm39)	V341A	probably benign	Het
Tmem52	G	A	4: 155,554,778 (GRCm39)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,606,951 (GRCm39)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Vmn1r173	A	T	7: 23,401,583 (GRCm39)		probably benign	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vwce	A	G	19: 10,615,479 (GRCm39)	E120G	possibly damaging	Het
Zfp143	T	C	7: 109,692,287 (GRCm39)	V566A	possibly damaging	Het

Other mutations in Lrrc66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Lrrc66	APN	5	73,764,457 (GRCm39)	missense	probably benign	0.10
IGL00913:Lrrc66	APN	5	73,765,499 (GRCm39)	missense	possibly damaging	0.76
IGL00954:Lrrc66	APN	5	73,765,741 (GRCm39)	missense	possibly damaging	0.94
IGL01061:Lrrc66	APN	5	73,772,842 (GRCm39)	missense	probably benign	0.01
IGL01343:Lrrc66	APN	5	73,765,806 (GRCm39)	missense	probably damaging	0.98
IGL01714:Lrrc66	APN	5	73,787,320 (GRCm39)	missense	probably benign	0.10
IGL01822:Lrrc66	APN	5	73,787,311 (GRCm39)	missense	probably benign	0.17
IGL02005:Lrrc66	APN	5	73,766,077 (GRCm39)	missense	possibly damaging	0.83
IGL02166:Lrrc66	APN	5	73,764,634 (GRCm39)	missense	probably damaging	0.99
IGL02380:Lrrc66	APN	5	73,787,009 (GRCm39)	missense	possibly damaging	0.55
IGL03162:Lrrc66	APN	5	73,764,725 (GRCm39)	missense	probably benign
BB002:Lrrc66	UTSW	5	73,765,835 (GRCm39)	missense	possibly damaging	0.81
BB012:Lrrc66	UTSW	5	73,765,835 (GRCm39)	missense	possibly damaging	0.81
D4043:Lrrc66	UTSW	5	73,764,869 (GRCm39)	missense	probably benign	0.03
R0126:Lrrc66	UTSW	5	73,764,431 (GRCm39)	missense	probably benign	0.10
R0437:Lrrc66	UTSW	5	73,765,030 (GRCm39)	missense	probably benign	0.23
R0638:Lrrc66	UTSW	5	73,772,816 (GRCm39)	splice site	probably benign
R0658:Lrrc66	UTSW	5	73,768,287 (GRCm39)	missense	probably benign	0.40
R0729:Lrrc66	UTSW	5	73,765,757 (GRCm39)	missense	probably benign
R1603:Lrrc66	UTSW	5	73,764,769 (GRCm39)	missense	possibly damaging	0.61
R1774:Lrrc66	UTSW	5	73,768,198 (GRCm39)	missense	probably benign	0.16
R1831:Lrrc66	UTSW	5	73,764,769 (GRCm39)	missense	possibly damaging	0.61
R1832:Lrrc66	UTSW	5	73,764,769 (GRCm39)	missense	possibly damaging	0.61
R1902:Lrrc66	UTSW	5	73,764,965 (GRCm39)	missense	probably damaging	0.99
R2858:Lrrc66	UTSW	5	73,764,646 (GRCm39)	missense	probably benign	0.08
R4097:Lrrc66	UTSW	5	73,765,047 (GRCm39)	missense	possibly damaging	0.94
R4164:Lrrc66	UTSW	5	73,787,119 (GRCm39)	splice site	probably null
R4582:Lrrc66	UTSW	5	73,765,580 (GRCm39)	missense	possibly damaging	0.94
R4708:Lrrc66	UTSW	5	73,787,005 (GRCm39)	missense	probably benign	0.06
R4856:Lrrc66	UTSW	5	73,765,910 (GRCm39)	missense	probably benign	0.10
R4886:Lrrc66	UTSW	5	73,765,910 (GRCm39)	missense	probably benign	0.10
R5074:Lrrc66	UTSW	5	73,765,354 (GRCm39)	missense	probably damaging	1.00
R5464:Lrrc66	UTSW	5	73,765,622 (GRCm39)	missense	probably benign	0.05
R5640:Lrrc66	UTSW	5	73,765,977 (GRCm39)	missense	probably benign	0.00
R5709:Lrrc66	UTSW	5	73,766,206 (GRCm39)	missense	probably benign
R5811:Lrrc66	UTSW	5	73,772,860 (GRCm39)	missense	possibly damaging	0.82
R6146:Lrrc66	UTSW	5	73,765,432 (GRCm39)	missense	probably benign	0.10
R7037:Lrrc66	UTSW	5	73,764,504 (GRCm39)	missense	probably benign	0.10
R7041:Lrrc66	UTSW	5	73,765,899 (GRCm39)	missense	possibly damaging	0.81
R7141:Lrrc66	UTSW	5	73,787,320 (GRCm39)	missense	probably benign	0.10
R7250:Lrrc66	UTSW	5	73,768,224 (GRCm39)	missense	probably benign	0.03
R7367:Lrrc66	UTSW	5	73,765,724 (GRCm39)	missense	probably benign	0.13
R7773:Lrrc66	UTSW	5	73,764,664 (GRCm39)	missense	probably damaging	0.98
R7925:Lrrc66	UTSW	5	73,765,835 (GRCm39)	missense	possibly damaging	0.81
R8057:Lrrc66	UTSW	5	73,764,875 (GRCm39)	nonsense	probably null
R8167:Lrrc66	UTSW	5	73,786,952 (GRCm39)	nonsense	probably null
R8552:Lrrc66	UTSW	5	73,768,228 (GRCm39)	missense	probably benign	0.16
R8834:Lrrc66	UTSW	5	73,765,928 (GRCm39)	missense	possibly damaging	0.56
R8992:Lrrc66	UTSW	5	73,787,227 (GRCm39)	missense	probably benign	0.04
R9017:Lrrc66	UTSW	5	73,765,244 (GRCm39)	missense	possibly damaging	0.94
R9051:Lrrc66	UTSW	5	73,765,268 (GRCm39)	missense	probably benign	0.00
R9051:Lrrc66	UTSW	5	73,765,267 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CGAGGGTCACTTTCGATATGC -3'
(R):5'- GAACTCAAATGTTCACTTCGGTTG -3'

Sequencing Primer
(F):5'- CGATATGCGATGGTGAGTGC -3'
(R):5'- AGAGAGTCAATTTCCTGCTTTTG -3'

Posted On

2019-06-26