Mutagenetix > Incidental Mutation

Incidental Mutation 'R0422:Pcdhb11'

37162

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

Pcdhb5E, PcdhbK

MMRRC Submission

038624-MU

Accession Numbers

Genbank: NM_053136.3; Ensembl: ENSMUST00000053073

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0422 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

37421418-37425836 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37421870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 84 (L84F)

Ref Sequence

ENSEMBL: ENSMUSP00000056148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053073] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91UZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000053073
AA Change: L84F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: L84F

Domain	Start	End	E-Value	Type
CA	54	131	3.51e-1	SMART
CA	155	240	4.11e-21	SMART
CA	264	344	6.37e-27	SMART
CA	367	448	4.79e-22	SMART
CA	472	558	7.31e-27	SMART
CA	588	669	2.46e-10	SMART
Pfam:Cadherin_C_2	686	769	3.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,972,199	S511P	possibly damaging	Het
Acsm3	T	A	7: 119,773,740	Y155*	probably null	Het
Adamts16	A	G	13: 70,738,955	C937R	probably damaging	Het
Akna	T	C	4: 63,392,154	D451G	probably damaging	Het
Alox12	A	T	11: 70,254,558	V63E	probably damaging	Het
Ap3b1	T	C	13: 94,462,460	I514T	probably damaging	Het
Arhgap23	T	C	11: 97,463,652	M286T	probably damaging	Het
Cdkl2	T	C	5: 92,020,312	D341G	probably benign	Het
Clip2	T	C	5: 134,498,113	D813G	probably benign	Het
Cntnap3	A	G	13: 64,757,285	V894A	probably damaging	Het
Coro2b	T	A	9: 62,427,977	Y304F	probably benign	Het
Dclre1a	T	A	19: 56,544,135	K676*	probably null	Het
Dmxl2	A	G	9: 54,399,940		probably null	Het
Dpep3	A	G	8: 105,976,118		probably null	Het
Efna5	C	T	17: 62,607,419	A177T	probably benign	Het
Fabp1	G	A	6: 71,203,093	V83I	possibly damaging	Het
H2-DMa	G	T	17: 34,137,947	G140C	probably damaging	Het
Hectd4	T	A	5: 121,343,082		probably null	Het
Hyou1	T	A	9: 44,389,242	N869K	probably damaging	Het
Ing1	G	A	8: 11,561,933	V124I	probably damaging	Het
Kalrn	T	A	16: 34,314,273	I380F	probably damaging	Het
Kcnh1	A	G	1: 192,337,580	I378V	probably benign	Het
Kmt2c	A	G	5: 25,315,664	V1816A	probably benign	Het
Matn2	G	A	15: 34,435,771		probably null	Het
Naip2	C	T	13: 100,161,113	S805N	probably benign	Het
Napsa	A	C	7: 44,585,106	Q254P	probably damaging	Het
Nat10	G	T	2: 103,726,729	S860*	probably null	Het
Nipbl	T	C	15: 8,351,628	D560G	probably benign	Het
Nr3c2	A	G	8: 77,185,967	M736V	probably benign	Het
Olfr1294	A	T	2: 111,537,983	F102Y	probably damaging	Het
Olfr52	A	T	2: 86,181,222	D296E	probably benign	Het
Olfr868	A	T	9: 20,101,448	R230*	probably null	Het
Palm3	A	G	8: 84,028,863	S335G	possibly damaging	Het
Panx1	G	T	9: 15,007,816	S249*	probably null	Het
Parvb	A	G	15: 84,295,611	T231A	probably benign	Het
Pi4k2b	T	C	5: 52,767,754	*447Q	probably null	Het
Ppp1r1a	A	G	15: 103,532,356	S125P	probably benign	Het
Prss1	T	A	6: 41,463,312	D194E	probably damaging	Het
Rnf216	A	T	5: 143,015,654	C772*	probably null	Het
Rnf216	A	T	5: 143,090,370	F253Y	probably benign	Het
Rsf1	A	T	7: 97,680,817	E1183D	probably benign	Het
Rusc1	T	C	3: 89,086,825	T958A	probably benign	Het
Rxfp1	A	G	3: 79,650,731	M480T	probably benign	Het
Slc22a16	T	A	10: 40,591,890	V473E	probably damaging	Het
Slc26a3	A	G	12: 31,465,849	T583A	possibly damaging	Het
Slc7a15	T	C	12: 8,534,400	T117A	probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Slitrk6	T	A	14: 110,752,293		probably benign	Het
Spata7	A	G	12: 98,658,265	Y110C	probably damaging	Het
Supt16	T	A	14: 52,183,996	I31F	probably benign	Het
Taar7a	T	C	10: 23,993,274	T70A	probably benign	Het
Top2a	A	G	11: 99,009,853	F594L	probably damaging	Het
Unc13d	C	T	11: 116,070,020		probably null	Het
Unc80	T	G	1: 66,483,338	V233G	probably damaging	Het
Wdr91	A	T	6: 34,880,846	D735E	probably damaging	Het
Zzef1	A	G	11: 72,866,091	T1141A	possibly damaging	Het

Other mutations in Pcdhb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Pcdhb11	APN	18	37421973	missense	probably benign	0.00
IGL00906:Pcdhb11	APN	18	37422121	missense	possibly damaging	0.67
IGL01610:Pcdhb11	APN	18	37423359	missense	probably benign	0.00
IGL01973:Pcdhb11	APN	18	37423512	missense	probably damaging	1.00
IGL01977:Pcdhb11	APN	18	37422291	missense	possibly damaging	0.49
IGL02164:Pcdhb11	APN	18	37423359	missense	probably benign	0.00
IGL02282:Pcdhb11	APN	18	37423828	missense	probably damaging	1.00
IGL02674:Pcdhb11	APN	18	37423614	missense	probably damaging	1.00
IGL02965:Pcdhb11	APN	18	37423968	missense	probably benign
IGL03197:Pcdhb11	APN	18	37422424	nonsense	probably null
1mM(1):Pcdhb11	UTSW	18	37423957	missense	probably benign	0.00
R0001:Pcdhb11	UTSW	18	37423989	missense	probably benign	0.06
R0383:Pcdhb11	UTSW	18	37423393	missense	probably damaging	1.00
R0421:Pcdhb11	UTSW	18	37422480	missense	probably benign	0.04
R0427:Pcdhb11	UTSW	18	37422765	missense	probably damaging	1.00
R0542:Pcdhb11	UTSW	18	37423834	missense	probably damaging	1.00
R0620:Pcdhb11	UTSW	18	37421811	nonsense	probably null
R1014:Pcdhb11	UTSW	18	37423369	missense	probably damaging	1.00
R1277:Pcdhb11	UTSW	18	37421716	missense	possibly damaging	0.79
R2034:Pcdhb11	UTSW	18	37422493	missense	probably benign	0.00
R2142:Pcdhb11	UTSW	18	37422123	missense	probably benign	0.28
R2496:Pcdhb11	UTSW	18	37422322	missense	probably benign	0.30
R3077:Pcdhb11	UTSW	18	37422244	missense	probably benign	0.08
R4560:Pcdhb11	UTSW	18	37423734	missense	possibly damaging	0.61
R4590:Pcdhb11	UTSW	18	37422496	missense	probably damaging	0.98
R4642:Pcdhb11	UTSW	18	37421968	missense	probably benign	0.01
R4729:Pcdhb11	UTSW	18	37422366	nonsense	probably null
R5012:Pcdhb11	UTSW	18	37422976	missense	possibly damaging	0.48
R5364:Pcdhb11	UTSW	18	37422179	missense	probably benign	0.06
R5910:Pcdhb11	UTSW	18	37423743	missense	probably benign	0.43
R6023:Pcdhb11	UTSW	18	37422925	missense	possibly damaging	0.94
R6106:Pcdhb11	UTSW	18	37423003	missense	probably damaging	1.00
R6254:Pcdhb11	UTSW	18	37421718	missense	probably damaging	0.99
R6276:Pcdhb11	UTSW	18	37421760	missense	probably benign	0.36
R6360:Pcdhb11	UTSW	18	37422159	missense	probably benign
R6699:Pcdhb11	UTSW	18	37422937	missense	probably damaging	1.00
R6732:Pcdhb11	UTSW	18	37422144	missense	probably benign
R6760:Pcdhb11	UTSW	18	37421584	intron	probably benign
R6916:Pcdhb11	UTSW	18	37422381	missense	possibly damaging	0.52
R7130:Pcdhb11	UTSW	18	37423506	missense	probably benign	0.04
R7267:Pcdhb11	UTSW	18	37421953	missense	possibly damaging	0.61
R7426:Pcdhb11	UTSW	18	37423260	missense	probably damaging	0.99
R7444:Pcdhb11	UTSW	18	37422619	missense	probably damaging	0.98
R7492:Pcdhb11	UTSW	18	37423444	missense	probably damaging	1.00
R7504:Pcdhb11	UTSW	18	37421799	missense	probably benign
R7537:Pcdhb11	UTSW	18	37421619	start codon destroyed	possibly damaging	0.88
R7728:Pcdhb11	UTSW	18	37423477	missense	probably damaging	1.00
R7817:Pcdhb11	UTSW	18	37423909	missense	probably damaging	1.00
R8071:Pcdhb11	UTSW	18	37422369	missense	probably benign	0.02
R8229:Pcdhb11	UTSW	18	37422618	missense	probably benign	0.00
R8254:Pcdhb11	UTSW	18	37422189	missense	probably benign	0.45
R8356:Pcdhb11	UTSW	18	37422199	missense	probably damaging	1.00
R8739:Pcdhb11	UTSW	18	37422496	missense	probably damaging	1.00
R8957:Pcdhb11	UTSW	18	37421639	missense	probably benign	0.43
R8957:Pcdhb11	UTSW	18	37422819	missense	probably benign	0.09
R8964:Pcdhb11	UTSW	18	37423607	missense	probably benign	0.00
R8966:Pcdhb11	UTSW	18	37422984	missense	possibly damaging	0.67
R9188:Pcdhb11	UTSW	18	37423135	missense	probably damaging	1.00
R9253:Pcdhb11	UTSW	18	37421476	intron	probably benign
R9632:Pcdhb11	UTSW	18	37422966	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACTGAATCTGCACAATGGAGAC -3'
(R):5'- TTCTGAACGGCATTGCTCCCTATG -3'

Sequencing Primer
(F):5'- CAGAGCAAAGGCAAGTCTTTTTTC -3'
(R):5'- GGCATTGCTCCCTATGTCAGAG -3'

Posted On

2013-05-09