Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Cd44'

570478

Institutional Source

Beutler Lab

Gene Symbol

Cd44

Ensembl Gene

ENSMUSG00000005087

Gene Name

CD44 antigen

Synonyms

Pgp-1, HERMES, Ly-24

MMRRC Submission

Accession Numbers

Genbank: NM_009851; MGI: 88338

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102811141-102901665 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102834262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 531 (N531K)

Ref Sequence

ENSEMBL: ENSMUSP00000005218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005218] [ENSMUST00000060516] [ENSMUST00000099673] [ENSMUST00000111190] [ENSMUST00000111191] [ENSMUST00000111192] [ENSMUST00000111194] [ENSMUST00000111198]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005218
AA Change: N531K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000005218
Gene: ENSMUSG00000005087
AA Change: N531K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	251	276	N/A	INTRINSIC
low complexity region	429	439	N/A	INTRINSIC
low complexity region	640	653	N/A	INTRINSIC
low complexity region	689	703	N/A	INTRINSIC
PDB:2ZPY\|B	710	729	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000060516
AA Change: N331K

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000062330
Gene: ENSMUSG00000005087
AA Change: N331K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	229	239	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	489	503	N/A	INTRINSIC
PDB:2ZPY\|B	510	529	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000099673

SMART Domains

Protein: ENSMUSP00000097265
Gene: ENSMUSG00000005087

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	225	238	N/A	INTRINSIC
low complexity region	274	288	N/A	INTRINSIC
PDB:2ZPY\|B	295	314	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000111190

SMART Domains

Protein: ENSMUSP00000106821
Gene: ENSMUSG00000005087

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	324	337	N/A	INTRINSIC
low complexity region	373	387	N/A	INTRINSIC
PDB:2ZPY\|B	394	413	8e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000111191
AA Change: N249K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106822
Gene: ENSMUSG00000005087
AA Change: N249K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	358	371	N/A	INTRINSIC
low complexity region	407	421	N/A	INTRINSIC
PDB:2ZPY\|B	428	447	9e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000111192

SMART Domains

Protein: ENSMUSP00000106823
Gene: ENSMUSG00000005087

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	294	307	N/A	INTRINSIC
low complexity region	343	357	N/A	INTRINSIC
PDB:2ZPY\|B	364	383	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000111194
AA Change: N328K

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106825
Gene: ENSMUSG00000005087
AA Change: N328K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	268	278	N/A	INTRINSIC
low complexity region	302	312	N/A	INTRINSIC
low complexity region	437	450	N/A	INTRINSIC
low complexity region	486	500	N/A	INTRINSIC
PDB:2ZPY\|B	507	526	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000111198
AA Change: N408K

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106829
Gene: ENSMUSG00000005087
AA Change: N408K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LINK	34	125	5.88e-38	SMART
low complexity region	306	316	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
PDB:2ZPY\|B	587	606	1e-6	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(4) Targeted, other(3)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,711	V534D	probably damaging	Het
Abraxas2	T	C	7: 132,874,849	F106S	probably damaging	Het
Acsf3	A	G	8: 122,785,946	T369A	probably benign	Het
Adgrf5	G	A	17: 43,428,444		probably null	Het
Aff1	T	A	5: 103,847,092	I1052K	probably benign	Het
Akap8	T	C	17: 32,316,575	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,227,450	M166L	probably benign	Het
Allc	T	A	12: 28,563,409	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,777,110	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,971,076	K8E	possibly damaging	Het
Bckdhb	T	A	9: 84,010,326	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,475,375		probably null	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cr2	A	G	1: 195,155,286	V792A	probably benign	Het
Cstf3	T	C	2: 104,608,956	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,836,783	E151G	probably benign	Het
Dbr1	T	C	9: 99,582,549	F127S		Het
Ddit4	A	T	10: 59,951,495	D6E	probably damaging	Het
Disc1	G	C	8: 125,165,102	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,819		probably null	Het
Dnah9	T	C	11: 66,080,578	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,901,505	R608G	probably damaging	Het
Efcab5	G	C	11: 77,137,561	P315A	probably benign	Het
Eif4a2	A	G	16: 23,113,262	Y392C	possibly damaging	Het
F5	G	T	1: 164,192,708	K917N	probably benign	Het
Fig4	T	C	10: 41,251,756	M571V	probably benign	Het
Flot2	T	A	11: 78,057,976	I259N	probably damaging	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gpr152	T	C	19: 4,142,964	V168A	possibly damaging	Het
H1f0	G	A	15: 79,028,903	G61D	probably damaging	Het
Ihh	T	A	1: 74,948,333	K183M	probably damaging	Het
Itga2	A	G	13: 114,837,202	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,369,260	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,621,966	L120R	probably damaging	Het
Krt14	C	A	11: 100,205,100	E211*	probably null	Het
Lars2	T	C	9: 123,427,480	L350P	probably damaging	Het
Lrba	T	C	3: 86,351,902	I1408T	probably damaging	Het
Lrrc27	A	G	7: 139,226,106	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,235,626	R617L	probably benign	Het
M1ap	A	G	6: 82,981,949	D187G	probably benign	Het
March1	A	T	8: 66,468,399	K243*	probably null	Het
Med16	C	T	10: 79,903,197	V252M	probably damaging	Het
Micu3	T	C	8: 40,348,958	S189P	probably benign	Het
Mier2	C	A	10: 79,540,298	M264I	unknown	Het
Mindy4	A	T	6: 55,301,025	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,976,336	Q534*	probably null	Het
Mroh9	C	T	1: 163,076,289		probably null	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Mta3	T	A	17: 83,708,441	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,600,650	H147L	probably damaging	Het
Nfam1	T	C	15: 83,010,439	K155R	probably benign	Het
Nlrp6	A	T	7: 140,921,278		probably benign	Het
Olfr1006	A	G	2: 85,674,845	F102S		Het
Olfr1153	T	C	2: 87,896,409		probably benign	Het
Olfr1164	A	T	2: 88,093,198	F246Y	probably benign	Het
Olfr213	A	G	6: 116,540,534	E27G	probably benign	Het
Olfr357	T	A	2: 36,996,861	I17N	possibly damaging	Het
P4ha1	A	G	10: 59,350,418	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,458,379	D636E	probably benign	Het
Polr2a	A	G	11: 69,741,060	L1060P	possibly damaging	Het
Ptgdr2	C	A	19: 10,940,955	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,937,421	R121S	probably benign	Het
Rasa2	T	C	9: 96,544,355	S813G	probably benign	Het
Rassf5	T	C	1: 131,178,536	K411E	possibly damaging	Het
Reep4	T	C	14: 70,546,547	Y35H	probably damaging	Het
Ror1	A	T	4: 100,425,943	M402L	probably benign	Het
Slc32a1	A	G	2: 158,614,406	E327G	probably damaging	Het
Spen	C	T	4: 141,479,385	E644K	unknown	Het
Tarsl2	C	G	7: 65,658,924	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,218,675	I92T	probably damaging	Het
Tifab	A	G	13: 56,176,307	S108P	probably damaging	Het
Traf1	T	C	2: 34,948,233	N198D	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Trim54	T	A	5: 31,137,161	D344E	probably benign	Het
Ttc28	A	T	5: 111,226,037	H1113L	probably damaging	Het
Vcam1	T	A	3: 116,114,562	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,268,385	T281S	probably benign	Het
Whrn	C	T	4: 63,431,959	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,726,876	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839	N2073K	probably benign	Het
Zgpat	T	A	2: 181,380,435	V163D		Het

Other mutations in Cd44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Cd44	APN	2	102855947	missense	possibly damaging	0.73
IGL01087:Cd44	APN	2	102822262	missense	probably damaging	1.00
IGL01413:Cd44	APN	2	102814287	missense	probably damaging	0.99
IGL01830:Cd44	APN	2	102842258	splice site	probably benign
IGL02221:Cd44	APN	2	102846513	missense	probably benign	0.01
IGL02271:Cd44	APN	2	102831387	missense	possibly damaging	0.93
IGL02552:Cd44	APN	2	102848731	missense	probably benign	0.01
IGL02861:Cd44	APN	2	102832481	critical splice donor site	probably null
IGL03309:Cd44	APN	2	102814177	missense	probably damaging	1.00
IGL03352:Cd44	APN	2	102845414	intron	probably benign
Jialin	UTSW	2	102865370	missense	probably damaging	0.99
Kale	UTSW	2	102824303	missense	probably damaging	0.99
N/A - 535:Cd44	UTSW	2	102814189	missense	possibly damaging	0.50
R0488:Cd44	UTSW	2	102834219	splice site	probably benign
R1441:Cd44	UTSW	2	102846418	missense	probably damaging	0.99
R1482:Cd44	UTSW	2	102831383	missense	probably damaging	1.00
R1497:Cd44	UTSW	2	102842955	splice site	probably null
R1803:Cd44	UTSW	2	102834252	missense	probably damaging	1.00
R1952:Cd44	UTSW	2	102853087	missense	probably damaging	0.98
R2093:Cd44	UTSW	2	102814284	missense	probably damaging	1.00
R2180:Cd44	UTSW	2	102828610	missense	possibly damaging	0.66
R2425:Cd44	UTSW	2	102861586	missense	probably damaging	1.00
R3687:Cd44	UTSW	2	102901350	splice site	probably null
R3820:Cd44	UTSW	2	102901393	splice site	probably null
R3821:Cd44	UTSW	2	102901393	splice site	probably null
R3822:Cd44	UTSW	2	102901393	splice site	probably null
R4060:Cd44	UTSW	2	102901342	missense	probably damaging	1.00
R4633:Cd44	UTSW	2	102853047	missense	possibly damaging	0.86
R4647:Cd44	UTSW	2	102837929	missense	possibly damaging	0.68
R4780:Cd44	UTSW	2	102861565	missense	probably damaging	1.00
R5087:Cd44	UTSW	2	102831354	missense	possibly damaging	0.83
R5118:Cd44	UTSW	2	102865370	missense	probably damaging	0.99
R5449:Cd44	UTSW	2	102832546	missense	probably damaging	1.00
R5642:Cd44	UTSW	2	102901342	missense	probably damaging	1.00
R5928:Cd44	UTSW	2	102824303	missense	probably damaging	0.99
R5995:Cd44	UTSW	2	102861670	missense	probably damaging	1.00
R5999:Cd44	UTSW	2	102845397	missense	probably benign	0.42
R7050:Cd44	UTSW	2	102814137	missense	probably damaging	0.99
R7797:Cd44	UTSW	2	102848734	missense	probably benign	0.34
R7866:Cd44	UTSW	2	102842259	critical splice donor site	probably null
R8138:Cd44	UTSW	2	102832497	missense	probably benign	0.00
R8185:Cd44	UTSW	2	102824320	missense	possibly damaging	0.52
R8732:Cd44	UTSW	2	102834300	missense	possibly damaging	0.67
R8955:Cd44	UTSW	2	102853018	missense	probably damaging	0.98
R9249:Cd44	UTSW	2	102831402	missense	possibly damaging	0.51
R9548:Cd44	UTSW	2	102831487	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TCTACAAGAAAGGCCGACAATG -3'
(R):5'- ATCCCAATTCTGGACATGTGTAC -3'

Sequencing Primer
(F):5'- GAAAACAGATTCAGACCCTGGCTG -3'
(R):5'- CCAATTCTGGACATGTGTACCAATTC -3'

Posted On

2019-09-13