Mutagenetix > Incidental Mutation

Incidental Mutation 'R9657:Cdh22'

727373

Institutional Source

Beutler Lab

Gene Symbol

Cdh22

Ensembl Gene

ENSMUSG00000053166

Gene Name

cadherin 22

Synonyms

PB-cadherin

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9657 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164953427-165076773 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164965715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 488 (D488G)

Ref Sequence

ENSEMBL: ENSMUSP00000066864 (fasta)

Gene Model

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

AlphaFold

Q9WTP5

Predicted Effect

probably benign
Transcript: ENSMUST00000065438
AA Change: D488G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: D488G

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 benign
Transcript: ENSMUST00000138643

SMART Domains

Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,243,379 (GRCm39)	D1747E	probably benign	Het
Acad11	T	A	9: 103,953,035 (GRCm39)	I88N	possibly damaging	Het
Atp2b4	T	C	1: 133,656,478 (GRCm39)	E724G	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,599 (GRCm39)	S63P	probably damaging	Het
Blzf1	T	C	1: 164,134,023 (GRCm39)	S9G	probably benign	Het
Ccdc121rt1	T	C	1: 181,338,104 (GRCm39)	T283A	probably benign	Het
Cep290	A	G	10: 100,351,003 (GRCm39)	E688G	possibly damaging	Het
Cldn10	A	C	14: 119,025,781 (GRCm39)	E71D	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cyp3a16	T	C	5: 145,386,979 (GRCm39)	D337G	probably null	Het
Dnah5	A	T	15: 28,410,089 (GRCm39)	D3654V	probably damaging	Het
Dock1	T	C	7: 134,339,429 (GRCm39)	S100P	possibly damaging	Het
Hdgfl2	T	C	17: 56,405,978 (GRCm39)	V488A	unknown	Het
Itih2	T	C	2: 10,107,686 (GRCm39)	T627A	probably damaging	Het
Katnip	A	G	7: 125,441,956 (GRCm39)	S648G	probably benign	Het
Klhl33	T	C	14: 51,134,117 (GRCm39)	D144G	probably benign	Het
Lca5l	G	A	16: 95,974,953 (GRCm39)	Q324*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mical2	A	G	7: 111,921,806 (GRCm39)	T542A	probably benign	Het
Moxd1	T	A	10: 24,128,485 (GRCm39)	V179E	probably benign	Het
Myh7b	A	G	2: 155,455,963 (GRCm39)	Y116C	probably damaging	Het
Myoc	C	T	1: 162,467,229 (GRCm39)	R133*	probably null	Het
Nol3	A	T	8: 106,005,641 (GRCm39)	I12F	probably damaging	Het
Nrap	A	G	19: 56,352,377 (GRCm39)	V605A	probably benign	Het
Or5w13	T	C	2: 87,524,121 (GRCm39)	Y35C	probably damaging	Het
Or9m2	A	C	2: 87,821,310 (GRCm39)	N285T	probably damaging	Het
Pag1	G	T	3: 9,769,791 (GRCm39)	S52R	probably damaging	Het
Pbxip1	A	G	3: 89,355,056 (GRCm39)	D525G	probably benign	Het
Pla2g4f	A	G	2: 120,135,138 (GRCm39)	F437L	probably benign	Het
Podn	A	C	4: 107,884,231 (GRCm39)	I86S	probably damaging	Het
Postn	A	G	3: 54,290,820 (GRCm39)	T676A	probably benign	Het
Ppp1r1c	A	G	2: 79,638,718 (GRCm39)	E104G	probably benign	Het
Prss53	T	C	7: 127,486,238 (GRCm39)	T436A	probably damaging	Het
Psme4	A	T	11: 30,788,980 (GRCm39)	E1127D	probably benign	Het
Ptpn18	C	A	1: 34,512,473 (GRCm39)	A426E	possibly damaging	Het
Ptprz1	T	G	6: 23,042,377 (GRCm39)	C2044G	possibly damaging	Het
Rad54l2	C	A	9: 106,581,372 (GRCm39)	V850L	probably damaging	Het
Ranbp9	A	G	13: 43,557,155 (GRCm39)	I28T	unknown	Het
Rapgef2	A	T	3: 78,999,191 (GRCm39)	V527E	probably damaging	Het
Rere	C	A	4: 150,699,390 (GRCm39)	P825T	unknown	Het
Rundc3a	A	G	11: 102,291,578 (GRCm39)	T349A	probably benign	Het
Scn2a	T	C	2: 65,566,032 (GRCm39)	F1352S	probably damaging	Het
Senp7	T	A	16: 55,944,295 (GRCm39)	C206*	probably null	Het
Serac1	C	T	17: 6,119,658 (GRCm39)	V91I	probably benign	Het
Serpina1f	G	A	12: 103,656,050 (GRCm39)	Q393*	probably null	Het
Slc8a1	T	C	17: 81,955,244 (GRCm39)	E598G	probably damaging	Het
Slmap	A	T	14: 26,151,013 (GRCm39)	H518Q	probably benign	Het
Spg11	G	A	2: 121,910,781 (GRCm39)	R1199C	probably damaging	Het
Tada1	T	C	1: 166,214,312 (GRCm39)	S104P	possibly damaging	Het
Tbck	A	G	3: 132,421,451 (GRCm39)	D186G	probably damaging	Het
Tdrd9	A	C	12: 112,002,824 (GRCm39)	R824S	possibly damaging	Het
Tmem161a	T	C	8: 70,630,260 (GRCm39)		probably null	Het
Trim55	G	A	3: 19,728,671 (GRCm39)	G494D	possibly damaging	Het
Ttc17	T	A	2: 94,237,010 (GRCm39)	M1L	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt3a1	A	C	15: 9,280,133 (GRCm39)	S32R	probably damaging	Het
Vgll3	T	C	16: 65,636,343 (GRCm39)	S220P	probably benign	Het
Virma	A	G	4: 11,544,898 (GRCm39)	E1569G	probably damaging	Het
Vmn1r54	C	G	6: 90,246,984 (GRCm39)	F299L	probably benign	Het
Vmn2r114	A	G	17: 23,510,690 (GRCm39)	S597P	probably damaging	Het
Wdr7	A	G	18: 64,057,918 (GRCm39)	D1249G	probably damaging	Het
Wdr97	A	G	15: 76,245,476 (GRCm39)	Y1271C		Het
Yju2b	T	C	8: 84,987,084 (GRCm39)	K138E	possibly damaging	Het
Ypel4	A	G	2: 84,568,068 (GRCm39)	Y108C	probably damaging	Het
Zfp770	A	G	2: 114,027,766 (GRCm39)	V101A	probably damaging	Het
Zfyve9	A	T	4: 108,575,729 (GRCm39)	C451S	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
R2005:Cdh22	UTSW	2	165,022,843 (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
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'- AAATGAGGGTTGCTAGGTGC -3'
(R):5'- TTGTGCCCCTGTGGATAACC -3'

Sequencing Primer
(F):5'- CCACCACACTGATGGTTTGGATG -3'
(R):5'- ATAACCCATAGTGTCAGTCGGTG -3'

Posted On

2022-10-06