Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Lrrc27'

366841

Institutional Source

Beutler Lab

Gene Symbol

Lrrc27

Ensembl Gene

ENSMUSG00000015980

Gene Name

leucine rich repeat containing 27

Synonyms

1700071K18Rik, 2310044E02Rik

MMRRC Submission

041994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4784 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139212988-139242979 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139242698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 502 (T502A)

Ref Sequence

ENSEMBL: ENSMUSP00000016124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016124]

AlphaFold

Q80YS5

Predicted Effect

probably benign
Transcript: ENSMUST00000016124
AA Change: T502A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: T502A

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
LRR_TYP	75	98	1.03e-2	SMART
LRR_TYP	99	122	3.69e-4	SMART
LRR	123	145	7.38e1	SMART
low complexity region	271	283	N/A	INTRINSIC
coiled coil region	336	370	N/A	INTRINSIC
coiled coil region	463	491	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152992

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,637,824	S83T	probably damaging	Het
Aff1	T	A	5: 103,847,039	Y1034*	probably null	Het
Ago3	A	T	4: 126,368,503	M418K	probably benign	Het
Alpk1	G	T	3: 127,687,592	N175K	possibly damaging	Het
Als2	A	G	1: 59,215,313	V295A	probably benign	Het
Arhgap32	A	G	9: 32,129,653	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,260,780	C1619R	probably damaging	Het
Asns	T	G	6: 7,678,029	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,629,158	I122V	probably damaging	Het
Baz1b	T	G	5: 135,217,413	L572R	possibly damaging	Het
C4b	T	C	17: 34,733,406	T1220A	probably benign	Het
Carmil3	T	C	14: 55,501,321		probably null	Het
Ccndbp1	A	T	2: 121,008,522	T5S	probably benign	Het
Chaf1b	T	C	16: 93,884,542	V16A	probably damaging	Het
Chd8	C	A	14: 52,205,368	C575F	probably damaging	Het
Chrna10	G	A	7: 102,113,219	P255S	possibly damaging	Het
Clip1	T	C	5: 123,579,293	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,678,494	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,513,341	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,763,908	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,765,926	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,857,664	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,258,310	R4*	probably null	Het
Dglucy	A	T	12: 100,838,664	D168V	probably damaging	Het
Dnah1	T	A	14: 31,263,479	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,179,428	D239G	probably benign	Het
Dok2	C	T	14: 70,777,874	P347L	probably benign	Het
Elavl2	T	C	4: 91,254,142	R265G	probably null	Het
Elf1	T	A	14: 79,580,743	N567K	probably benign	Het
Epha8	A	T	4: 136,933,322	I695N	probably damaging	Het
Fam103a1	T	A	7: 81,768,415	W73R	probably damaging	Het
Fam178b	C	A	1: 36,632,415		probably null	Het
Fam76a	A	T	4: 132,902,117		probably null	Het
Fam76a	A	G	4: 132,916,190	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041	T312A	probably benign	Het
Fscn2	T	C	11: 120,367,987	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,597,642	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315	L684R	probably damaging	Het
Golga2	T	A	2: 32,297,156	N89K	probably damaging	Het
Gpx6	C	T	13: 21,312,264	Q3*	probably null	Het
Grin1	T	A	2: 25,292,381	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,439,938	C122G	probably damaging	Het
Hcar2	C	G	5: 123,864,450	G330A	probably benign	Het
Hes3	A	G	4: 152,287,832	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,889,260	H347R	probably benign	Het
Il1rl1	A	G	1: 40,450,188	R367G	probably damaging	Het
Kcnc1	G	T	7: 46,437,287	S570I	probably benign	Het
Kctd3	T	C	1: 188,974,468	I523M	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,816,762	M2081R	possibly damaging	Het
Krt83	A	G	15: 101,487,956	S253P	probably damaging	Het
Ktn1	T	A	14: 47,693,496		probably null	Het
Lair1	T	A	7: 4,009,732	M251L	probably benign	Het
Lama3	A	T	18: 12,449,544	H631L	probably benign	Het
Lamc1	T	C	1: 153,231,740	N1231S	probably damaging	Het
Lin54	A	G	5: 100,459,738	I250T	probably damaging	Het
Lrit1	C	T	14: 37,062,236	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,604,201	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,479,539	S921A	probably benign	Het
Marf1	A	C	16: 14,152,457	S133A	probably benign	Het
Mga	C	T	2: 119,903,057	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,541,325	N327S	probably damaging	Het
Mlh1	A	G	9: 111,239,798	Y499H	probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Myo1h	A	G	5: 114,360,599	I919V	possibly damaging	Het
Naalad2	T	C	9: 18,350,918	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,901,499	H14R	probably benign	Het
Nav1	A	G	1: 135,458,739	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,506,934	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,052,780	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,746,402		probably benign	Het
Nphp4	G	A	4: 152,554,546	R878K	probably benign	Het
Nutm1	G	A	2: 112,248,936	A878V	probably benign	Het
Olfr1305	A	T	2: 111,873,050	D268E	possibly damaging	Het
Olfr172	G	T	16: 58,760,548	F209L	probably damaging	Het
Olfr675	A	C	7: 105,024,530	I150S	probably damaging	Het
Orc6	T	A	8: 85,302,950	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,267,846	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 29,292,061	E98V	possibly damaging	Het
Pqlc2	G	T	4: 139,300,001	H343Q	probably benign	Het
Prpf8	T	A	11: 75,492,505	D521E	probably damaging	Het
Pudp	A	G	18: 50,568,065	V199A	probably damaging	Het
Rab3c	T	C	13: 110,061,900	E198G	probably benign	Het
Rbl2	A	G	8: 91,085,568	Y255C	probably damaging	Het
Rbm12	T	C	2: 156,096,564	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,377,641	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,337,223	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,527,074	T93A	possibly damaging	Het
Sun3	G	A	11: 9,038,266	L19F	probably benign	Het
Tas2r125	A	G	6: 132,909,903	I85V	probably benign	Het
Tenm4	A	C	7: 96,774,046	K683Q	probably damaging	Het
Tmprss11d	C	T	5: 86,306,281	V222M	probably damaging	Het
Tnip1	A	C	11: 54,915,539	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,657,703	P554S	probably damaging	Het
Top1mt	A	G	15: 75,676,031	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,340,897	K508R	probably benign	Het
Ttll4	A	T	1: 74,679,007	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,222,717	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,615,063		probably null	Het
Zbbx	T	C	3: 75,085,041	I268V	probably benign	Het
Zbtb40	G	A	4: 137,007,097	P360S	probably damaging	Het
Zfp324	T	C	7: 12,971,306	L474P	probably damaging	Het
Zfp398	A	G	6: 47,840,252	T9A	probably benign	Het
Zfp692	A	C	11: 58,310,171	S293R	probably null	Het

Other mutations in Lrrc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Lrrc27	APN	7	139227911	intron	probably benign
IGL02095:Lrrc27	APN	7	139230253	missense	probably benign	0.04
IGL02489:Lrrc27	APN	7	139226061	missense	probably benign	0.01
IGL03080:Lrrc27	APN	7	139230237	missense	probably benign	0.03
R0372:Lrrc27	UTSW	7	139226187	missense	probably benign	0.17
R1466:Lrrc27	UTSW	7	139230308	unclassified	probably benign
R2401:Lrrc27	UTSW	7	139223613	missense	probably damaging	1.00
R2876:Lrrc27	UTSW	7	139228684	intron	probably benign
R3113:Lrrc27	UTSW	7	139218307	missense	probably damaging	1.00
R4214:Lrrc27	UTSW	7	139223693	missense	probably damaging	1.00
R4707:Lrrc27	UTSW	7	139242698	missense	probably benign	0.02
R5070:Lrrc27	UTSW	7	139214799	missense	probably damaging	0.99
R5855:Lrrc27	UTSW	7	139218335	unclassified	probably benign
R6408:Lrrc27	UTSW	7	139218268	missense	probably benign	0.14
R6993:Lrrc27	UTSW	7	139242624	missense	probably damaging	0.99
R7332:Lrrc27	UTSW	7	139242745	missense	probably damaging	1.00
R7350:Lrrc27	UTSW	7	139226106	missense	probably benign	0.01
R7460:Lrrc27	UTSW	7	139223658	missense	probably damaging	1.00
R7502:Lrrc27	UTSW	7	139214832	missense	probably benign
R8020:Lrrc27	UTSW	7	139236877	missense	probably damaging	1.00
R8071:Lrrc27	UTSW	7	139236986	missense	probably benign	0.01
R8518:Lrrc27	UTSW	7	139228774	missense	probably benign	0.01
R8728:Lrrc27	UTSW	7	139242639	missense	probably damaging	1.00
R8734:Lrrc27	UTSW	7	139216599	unclassified	probably benign
R9141:Lrrc27	UTSW	7	139227945	missense	probably benign	0.03
R9355:Lrrc27	UTSW	7	139242732	missense	probably damaging	0.98
R9387:Lrrc27	UTSW	7	139227921	nonsense	probably null
R9627:Lrrc27	UTSW	7	139228666	intron	probably benign
R9742:Lrrc27	UTSW	7	139226313	missense	probably benign	0.39
R9779:Lrrc27	UTSW	7	139236970	missense	possibly damaging	0.95
R9800:Lrrc27	UTSW	7	139227997	missense	probably benign	0.16
RF018:Lrrc27	UTSW	7	139226100	missense	probably benign	0.03
X0065:Lrrc27	UTSW	7	139230245	missense	probably benign	0.00
X0065:Lrrc27	UTSW	7	139230246	missense	probably benign	0.00
Z1176:Lrrc27	UTSW	7	139242720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAAGGTATCCTGCGTGCAC -3'
(R):5'- TCAGGTCTATTAAAAGCCATAGCC -3'

Sequencing Primer
(F):5'- TATCCTGCGTGCACCCTGC -3'
(R):5'- TTAAAAGCCATAGCCTGTGTGG -3'

Posted On

2015-12-29