Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Cdh22'

225332

Institutional Source

Beutler Lab

Gene Symbol

Cdh22

Ensembl Gene

ENSMUSG00000053166

Gene Name

cadherin 22

Synonyms

PB-cadherin

MMRRC Submission

040014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R2005 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

164953427-165076773 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 165022843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 76 (E76V)

Ref Sequence

ENSEMBL: ENSMUSP00000120785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065438] [ENSMUST00000138643]

AlphaFold

Q9WTP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065438
AA Change: E76V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: E76V

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
CA	82	163	2.19e-16	SMART
CA	187	272	3.11e-30	SMART
CA	296	390	4.88e-14	SMART
CA	413	494	2.27e-23	SMART
CA	517	604	4.52e-9	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	647	803	4.3e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000138643
AA Change: E76V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166
AA Change: E76V

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
CA	82	163	2.19e-16	SMART
CA	187	272	3.11e-30	SMART
CA	296	390	4.88e-14	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,841,562 (GRCm39)	A961V	probably benign	Het
Adcy10	A	G	1: 165,352,591 (GRCm39)	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,150,799 (GRCm39)	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,624,214 (GRCm39)	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,814 (GRCm39)	S314R	probably damaging	Het
Apc	T	C	18: 34,443,962 (GRCm39)		probably null	Het
Atg9a	T	A	1: 75,162,635 (GRCm39)	Q460L	probably benign	Het
Birc2	C	T	9: 7,860,342 (GRCm39)	C292Y	probably damaging	Het
Capn5	T	C	7: 97,778,570 (GRCm39)	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,883,715 (GRCm39)		probably null	Het
Cdh8	T	C	8: 99,760,103 (GRCm39)		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,898,919 (GRCm39)		probably benign	Het
Cfap54	T	A	10: 92,720,630 (GRCm39)	D2608V	unknown	Het
Crebrf	T	C	17: 26,961,857 (GRCm39)	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720 (GRCm39)	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,631,789 (GRCm39)	M136K	probably damaging	Het
Ddx10	A	G	9: 53,151,775 (GRCm39)		probably null	Het
Ddx47	A	G	6: 134,995,084 (GRCm39)	N92S	probably benign	Het
Ddx50	T	A	10: 62,476,243 (GRCm39)	H306L	probably benign	Het
Dnajc27	A	G	12: 4,147,317 (GRCm39)	T167A	possibly damaging	Het
Dscam	T	G	16: 96,840,120 (GRCm39)	K162N	probably benign	Het
Eif4h	G	A	5: 134,656,531 (GRCm39)	T53I	probably benign	Het
Elmo2	T	C	2: 165,140,199 (GRCm39)	N332S	probably benign	Het
Ergic3	A	G	2: 155,853,028 (GRCm39)	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,649,782 (GRCm39)	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,877,790 (GRCm39)	A151T	probably benign	Het
Foxf2	G	T	13: 31,810,124 (GRCm39)	R21L	unknown	Het
Gmip	T	A	8: 70,266,693 (GRCm39)	H269Q	probably benign	Het
Gng4	T	A	13: 13,980,751 (GRCm39)	V32E	probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Helz2	C	T	2: 180,873,122 (GRCm39)	R2396H	probably benign	Het
Icosl	A	T	10: 77,907,787 (GRCm39)	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,702,295 (GRCm39)	N16K	probably benign	Het
Kcnt2	A	G	1: 140,480,756 (GRCm39)	M824V	probably damaging	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mmp25	G	A	17: 23,859,216 (GRCm39)	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,953,068 (GRCm39)	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,946,640 (GRCm39)	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351 (GRCm39)	D445E	probably benign	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Or10ag56	T	A	2: 87,139,792 (GRCm39)	S240T	probably benign	Het
Or1e19	A	T	11: 73,316,065 (GRCm39)	V248E	probably damaging	Het
Or5d38	A	G	2: 87,954,891 (GRCm39)	L146P	probably damaging	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Pard3b	A	T	1: 62,184,050 (GRCm39)	E183D	probably benign	Het
Pde10a	G	A	17: 9,147,923 (GRCm39)		probably null	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695 (GRCm39)		probably benign	Het
Rc3h2	T	A	2: 37,279,765 (GRCm39)	K461*	probably null	Het
Reep2	C	T	18: 34,978,674 (GRCm39)	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,318,531 (GRCm39)	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,916 (GRCm39)	F708I	possibly damaging	Het
Robo2	G	A	16: 73,730,003 (GRCm39)	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,546,878 (GRCm39)	V112I	probably benign	Het
Sec16a	A	C	2: 26,329,092 (GRCm39)	S974R	probably benign	Het
Sfrp5	A	G	19: 42,187,275 (GRCm39)	M265T	probably benign	Het
Skint7	T	C	4: 111,842,047 (GRCm39)	I305T	probably benign	Het
Slc6a7	T	C	18: 61,134,713 (GRCm39)	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,009,214 (GRCm39)	I407T	probably damaging	Het
Slfn8	A	T	11: 82,894,976 (GRCm39)	M610K	probably damaging	Het
Spidr	A	G	16: 15,865,913 (GRCm39)	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,065,844 (GRCm39)	W2034*	probably null	Het
Stard9	T	A	2: 120,495,426 (GRCm39)	F100L	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stc1	T	C	14: 69,269,096 (GRCm39)		probably null	Het
Sun2	T	C	15: 79,610,825 (GRCm39)	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,333,280 (GRCm39)	S511P	probably damaging	Het
Tasp1	T	G	2: 139,819,598 (GRCm39)	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,939,546 (GRCm39)	F501L	probably damaging	Het
Tgds	A	G	14: 118,368,068 (GRCm39)	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 88,988,369 (GRCm39)	T860I	probably benign	Het
Twf1	C	T	15: 94,483,328 (GRCm39)		probably null	Het
Vangl1	A	G	3: 102,070,782 (GRCm39)	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,696,618 (GRCm39)	I263T	probably damaging	Het
Washc5	A	G	15: 59,213,004 (GRCm39)	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,154,716 (GRCm39)	C302R	probably damaging	Het
Zfp395	A	G	14: 65,626,334 (GRCm39)	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,383,042 (GRCm39)	L302P	probably damaging	Het

Other mutations in Cdh22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cdh22	APN	2	164,954,521 (GRCm39)	missense	possibly damaging	0.54
IGL01868:Cdh22	APN	2	164,999,278 (GRCm39)	missense	probably damaging	0.99
IGL01932:Cdh22	APN	2	165,012,728 (GRCm39)	missense	probably benign	0.05
IGL02268:Cdh22	APN	2	164,965,639 (GRCm39)	splice site	probably benign
IGL02455:Cdh22	APN	2	164,984,175 (GRCm39)	missense	possibly damaging	0.46
IGL03231:Cdh22	APN	2	164,958,126 (GRCm39)	missense	probably benign	0.16
IGL03264:Cdh22	APN	2	164,958,093 (GRCm39)	missense	probably benign	0.21
IGL03014:Cdh22	UTSW	2	164,954,331 (GRCm39)	nonsense	probably null
R0712:Cdh22	UTSW	2	165,012,576 (GRCm39)	missense	probably damaging	1.00
R0865:Cdh22	UTSW	2	165,022,976 (GRCm39)	missense	probably damaging	0.98
R1192:Cdh22	UTSW	2	164,977,203 (GRCm39)	missense	probably damaging	1.00
R1700:Cdh22	UTSW	2	165,012,716 (GRCm39)	missense	probably damaging	1.00
R1844:Cdh22	UTSW	2	164,985,614 (GRCm39)	missense	probably damaging	1.00
R2137:Cdh22	UTSW	2	164,958,314 (GRCm39)	splice site	probably benign
R2270:Cdh22	UTSW	2	164,985,767 (GRCm39)	splice site	probably null
R2271:Cdh22	UTSW	2	164,985,767 (GRCm39)	splice site	probably null
R2272:Cdh22	UTSW	2	164,985,767 (GRCm39)	splice site	probably null
R4021:Cdh22	UTSW	2	164,985,593 (GRCm39)	missense	possibly damaging	0.81
R4022:Cdh22	UTSW	2	164,999,173 (GRCm39)	missense	probably benign	0.14
R4613:Cdh22	UTSW	2	164,985,576 (GRCm39)	missense	probably benign
R4625:Cdh22	UTSW	2	164,954,526 (GRCm39)	missense	probably damaging	1.00
R5038:Cdh22	UTSW	2	164,984,197 (GRCm39)	missense	probably benign	0.16
R5057:Cdh22	UTSW	2	164,958,063 (GRCm39)	missense	probably damaging	0.98
R5649:Cdh22	UTSW	2	164,958,200 (GRCm39)	missense	probably damaging	1.00
R6175:Cdh22	UTSW	2	164,988,550 (GRCm39)	missense	probably damaging	0.98
R6297:Cdh22	UTSW	2	164,985,564 (GRCm39)	missense	possibly damaging	0.86
R6445:Cdh22	UTSW	2	165,012,612 (GRCm39)	missense	probably damaging	0.97
R7294:Cdh22	UTSW	2	164,984,013 (GRCm39)	missense	possibly damaging	0.94
R7310:Cdh22	UTSW	2	164,954,214 (GRCm39)	nonsense	probably null
R7595:Cdh22	UTSW	2	164,954,383 (GRCm39)	missense	probably benign	0.00
R7601:Cdh22	UTSW	2	164,954,466 (GRCm39)	missense	probably damaging	1.00
R8047:Cdh22	UTSW	2	165,012,687 (GRCm39)	missense	probably damaging	1.00
R8308:Cdh22	UTSW	2	164,954,098 (GRCm39)	missense	probably damaging	0.99
R8480:Cdh22	UTSW	2	164,988,646 (GRCm39)	missense	probably benign
R8526:Cdh22	UTSW	2	164,954,178 (GRCm39)	missense	probably damaging	1.00
R8771:Cdh22	UTSW	2	164,988,689 (GRCm39)	missense	possibly damaging	0.94
R8927:Cdh22	UTSW	2	164,965,504 (GRCm39)	missense	possibly damaging	0.58
R8928:Cdh22	UTSW	2	164,965,504 (GRCm39)	missense	possibly damaging	0.58
R9158:Cdh22	UTSW	2	165,012,627 (GRCm39)	missense	probably damaging	1.00
R9433:Cdh22	UTSW	2	164,954,329 (GRCm39)	missense	probably benign	0.32
R9498:Cdh22	UTSW	2	164,954,490 (GRCm39)	missense	probably damaging	1.00
R9638:Cdh22	UTSW	2	164,988,687 (GRCm39)	missense	probably damaging	0.97
R9657:Cdh22	UTSW	2	164,965,715 (GRCm39)	missense	probably benign	0.01
Z1088:Cdh22	UTSW	2	164,954,350 (GRCm39)	missense	probably benign	0.01
Z1176:Cdh22	UTSW	2	164,958,104 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdh22	UTSW	2	164,988,600 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGACCTTATTGGCTGTCCC -3'
(R):5'- TCATCATGTGACGCAGCACC -3'

Sequencing Primer
(F):5'- TGTCCCCACAGTACCCAGG -3'
(R):5'- TCAAGCATGAGGCCACG -3'

Posted On

2014-08-25